LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Dutch
Study Design
1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
Conclusions
As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing

Variants (40)

AKT1

1.
Identifier
AKT1
In Other Studies (IDs)
872
Cytogenetic Location
14q32.33
UCSC Genome Browser
View 14q32.33 on the UCSC genome browser

Gene details

HGNC symbol
AKT1
Aliases
AKT; PKB; RAC; CWS6; PRKBA; PKB-ALPHA; RAC-ALPHA 
Common name
AKT serine/threonine kinase 1 
Description
The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
Other longevity studies of this gene
9
OMIM
164730
Ensembl
ENSG00000142208
UniProt/Swiss-Prot
AKT1_HUMAN
Entrez Gene
207
UniGene
525622
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Akt1
Rattus norvegicus
Akt1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Akt1
GenAge human genes
  • This gene is present as AKT1
CellAge
  • This gene is present as AKT1

AKT1S1

1.
Identifier
AKT1S1
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser

Gene details

HGNC symbol
AKT1S1
Aliases
Lobe; PRAS40 
Common name
AKT1 substrate 1 
Description
AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]
OMIM
610221
Ensembl
ENSG00000204673
UniProt/Swiss-Prot
A0A024QZF6_HUMAN
Entrez Gene
84335
UniGene
515542
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
akt1s1
Mus musculus
Akt1s1
Rattus norvegicus
Akt1s1

ATG101

1.
Identifier
C12orf44
Cytogenetic Location
12q13.13
UCSC Genome Browser
View 12q13.13 on the UCSC genome browser

Gene details

HGNC symbol
ATG101
Aliases
C12orf44 
Common name
autophagy related 101 
Description
OMIM
615089
Ensembl
ENSG00000123395
UniProt/Swiss-Prot
A0A024R128_HUMAN
Entrez Gene
60673
UniGene
9911
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
epg-9
Danio rerio
atg101
Drosophila melanogaster
CG7053
Mus musculus
Atg101
Rattus norvegicus
Atg101
Schizosaccharomyces pombe
mug66

ATG13

1.
Identifier
ATG13
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser

Gene details

HGNC symbol
ATG13
Aliases
KIAA0652; PARATARG8 
Common name
autophagy related 13 
Description
The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]
OMIM
615088
Ensembl
ENSG00000175224
UniProt/Swiss-Prot
A8K0S6_HUMAN
Entrez Gene
9776
UniGene
127403
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
atg13
Mus musculus
Atg13
Rattus norvegicus
Atg13

CDKN2C

1.
Identifier
CDKN2C
Cytogenetic Location
1p32.3
UCSC Genome Browser
View 1p32.3 on the UCSC genome browser

Gene details

HGNC symbol
CDKN2C
Aliases
p18; INK4C; p18-INK4C 
Common name
cyclin dependent kinase inhibitor 2C 
Description
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
OMIM
603369
Ensembl
ENSG00000123080
UniProt/Swiss-Prot
CDN2C_HUMAN
Entrez Gene
1031
UniGene
525324
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cdkn2c
Mus musculus
Cdkn2c
Rattus norvegicus
Cdkn2c

DEPTOR

1.
Identifier
DEPTOR
Cytogenetic Location
8q24.12
UCSC Genome Browser
View 8q24.12 on the UCSC genome browser

Gene details

HGNC symbol
DEPTOR
Aliases
DEP.6; DEPDC6 
Common name
DEP domain containing MTOR interacting protein 
Description
OMIM
612974
Ensembl
ENSG00000155792
UniProt/Swiss-Prot
DPTOR_HUMAN
Entrez Gene
64798
UniGene
112981
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
deptor
Mus musculus
Deptor
Rattus norvegicus
Deptor

EIF4B

1.
Identifier
EIF4B
Cytogenetic Location
12q13.13
UCSC Genome Browser
View 12q13.13 on the UCSC genome browser

Gene details

HGNC symbol
EIF4B
Aliases
EIF-4B; PRO1843 
Common name
eukaryotic translation initiation factor 4B 
Description
OMIM
603928
Ensembl
ENSG00000063046
UniProt/Swiss-Prot
B4DRM3_HUMAN
Entrez Gene
1975
UniGene
648394
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
eif4bb
Drosophila melanogaster
eIF-4B
Mus musculus
Eif4b
Rattus norvegicus
Eif4b

EIF4E

1.
Identifier
EIF4E
Cytogenetic Location
4q23
UCSC Genome Browser
View 4q23 on the UCSC genome browser

Gene details

HGNC symbol
EIF4E
Aliases
CBP; EIF4F; AUTS19; EIF4E1; eIF-4E; EIF4EL1 
Common name
eukaryotic translation initiation factor 4E 
Description
The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
OMIM
133440
Ensembl
ENSG00000151247
UniProt/Swiss-Prot
D6RBW1_HUMAN
Entrez Gene
1977
UniGene
13211
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
eif4eb
Mus musculus
Eif4e
Rattus norvegicus
Eif4e

EIF4EBP1

1.
Identifier
EIF4EBP1
Cytogenetic Location
8p11.23
UCSC Genome Browser
View 8p11.23 on the UCSC genome browser

Gene details

HGNC symbol
EIF4EBP1
Aliases
BP-1; 4EBP1; 4E-BP1; PHAS-I 
Common name
eukaryotic translation initiation factor 4E binding protein 1 
Description
This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]
OMIM
602223
Ensembl
ENSG00000187840
UniProt/Swiss-Prot
4EBP1_HUMAN
Entrez Gene
1978
UniGene
411641
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Eif4ebp1
Rattus norvegicus
Eif4ebp1

FOXO1

1.
Identifier
FOXO1
In Other Studies (IDs)
166
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser

Gene details

HGNC symbol
FOXO1
Aliases
FKH1; FKHR; FOXO1A 
Common name
forkhead box O1 
Description
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
30
OMIM
136533
Ensembl
ENSG00000150907
UniProt/Swiss-Prot
FOXO1_HUMAN
Entrez Gene
2308
UniGene
370666
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
foxo1b
Mus musculus
Foxo1
Rattus norvegicus
Foxo1

In other databases

GenAge human genes
  • This gene is present as FOXO1

FOXO3

1.
Identifier
FOXO3
In Other Studies (IDs)
768
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser

Gene details

HGNC symbol
FOXO3
Aliases
FOXO2; AF6q21; FKHRL1; FOXO3A; FKHRL1P2 
Common name
forkhead box O3 
Description
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
101
OMIM
602681
Ensembl
ENSG00000118689
UniProt/Swiss-Prot
FOXO3_HUMAN
Entrez Gene
2309
UniGene
220950
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
foxo3a
Mus musculus
Foxo3
Rattus norvegicus
Foxo3

In other databases

GenAge human genes
  • This gene is present as FOXO3
GenDR gene manipulations
  • A homolog of this gene for Mus musculus is present as Foxo3
CellAge
  • This gene is present as FOXO3

HIF1A

1.
Identifier
HIF1A
Cytogenetic Location
14q23.2
UCSC Genome Browser
View 14q23.2 on the UCSC genome browser

Gene details

HGNC symbol
HIF1A
Aliases
HIF1; MOP1; PASD8; HIF-1A; bHLHe78; HIF-1alpha; HIF1-ALPHA; HIF-1-alpha 
Common name
hypoxia inducible factor 1 alpha subunit 
Description
This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]
OMIM
603348
Ensembl
ENSG00000100644
UniProt/Swiss-Prot
D0VY79_HUMAN
Entrez Gene
3091
UniGene
597216
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
hif1ab
Mus musculus
Hif1a
Rattus norvegicus
Hif1a

In other databases

GenAge human genes
  • This gene is present as HIF1A

LAMTOR2

1.
Identifier
LAMTOR2
Cytogenetic Location
1q22
UCSC Genome Browser
View 1q22 on the UCSC genome browser

Gene details

HGNC symbol
LAMTOR2
Aliases
p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2 
Common name
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 
Description
The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
OMIM
610389
Ensembl
ENSG00000116586
UniProt/Swiss-Prot
LTOR2_HUMAN
Entrez Gene
28956
UniGene
632483
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
Y97E10AR.7
Danio rerio
lamtor2
Drosophila melanogaster
CG5189
Mus musculus
Lamtor2
Rattus norvegicus
Lamtor2

LAMTOR3

1.
Identifier
LAMTOR3
Cytogenetic Location
4q23
UCSC Genome Browser
View 4q23 on the UCSC genome browser

Gene details

HGNC symbol
LAMTOR3
Aliases
MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3 
Common name
late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 
Description
This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]
OMIM
603296
Ensembl
ENSG00000109270
UniProt/Swiss-Prot
LTOR3_HUMAN
Entrez Gene
8649
UniGene
433332
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
lamtor3
Drosophila melanogaster
CG5110
Mus musculus
Lamtor3
Rattus norvegicus
Lamtor3

MAPKAP1

1.
Identifier
MAPKAP1
Cytogenetic Location
9q33.3
UCSC Genome Browser
View 9q33.3 on the UCSC genome browser

Gene details

HGNC symbol
MAPKAP1
Aliases
MIP1; SIN1; JC310; SIN1b; SIN1g 
Common name
mitogen-activated protein kinase associated protein 1 
Description
This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]
OMIM
610558
Ensembl
ENSG00000119487
UniProt/Swiss-Prot
A0A024R863_HUMAN
Entrez Gene
79109
UniGene
495138
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mapkap1
Drosophila melanogaster
Sin1
Mus musculus
Mapkap1
Rattus norvegicus
Mapkap1

MLST8

1.
Identifier
MLST8
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser

Gene details

HGNC symbol
MLST8
Aliases
GBL; LST8; POP3; WAT1; GbetaL 
Common name
MTOR associated protein, LST8 homolog 
Description
OMIM
612190
Ensembl
ENSG00000167965
UniProt/Swiss-Prot
LST8_HUMAN
Entrez Gene
64223
UniGene
29203
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C10H11.8
Danio rerio
mlst8
Drosophila melanogaster
CG3004
Mus musculus
Mlst8
Rattus norvegicus
Mlst8
Saccharomyces cerevisiae
LST8
Schizosaccharomyces pombe
wat1

MTOR

1.
Identifier
MTOR
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
MTOR
Aliases
SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1 
Common name
mechanistic target of rapamycin 
Description
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
Other longevity studies of this gene
9
OMIM
601231
Ensembl
ENSG00000198793
UniProt/Swiss-Prot
MTOR_HUMAN
Entrez Gene
2475
UniGene
338207
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
let-363
Danio rerio
mtor
Drosophila melanogaster
Tor
Mus musculus
Mtor
Rattus norvegicus
Mtor
Saccharomyces cerevisiae
TOR2
Schizosaccharomyces pombe
tor2

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as let-363
  • A homolog of this gene for Drosophila melanogaster is present as Tor
  • A homolog of this gene for Mus musculus is present as Mtor
GenAge human genes
  • This gene is present as MTOR
GenDR gene manipulations
  • A homolog of this gene for Caenorhabditis elegans is present as let-363

POLDIP3

1.
Identifier
POLDIP3
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser

Gene details

HGNC symbol
POLDIP3
Aliases
SKAR; PDIP46 
Common name
DNA polymerase delta interacting protein 3 
Description
This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
OMIM
611520
Ensembl
ENSG00000100227
UniProt/Swiss-Prot
B4E0L0_HUMAN
Entrez Gene
84271
UniGene
505802
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100536140
Mus musculus
Poldip3
Rattus norvegicus
Poldip3

PPARG

1.
Identifier
PPARG
In Other Studies (IDs)
152
Cytogenetic Location
3p25.2
UCSC Genome Browser
View 3p25.2 on the UCSC genome browser

Gene details

HGNC symbol
PPARG
Aliases
GLM1; CIMT1; NR1C3; PPARG1; PPARG2; PPARgamma 
Common name
peroxisome proliferator activated receptor gamma 
Description
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
601487
Ensembl
ENSG00000132170
UniProt/Swiss-Prot
D2KUA6_HUMAN
Entrez Gene
5468
UniGene
162646
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pparg
Mus musculus
Pparg
Rattus norvegicus
Pparg

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Pparg
GenAge human genes
  • This gene is present as PPARG

PPARGC1A

1.
Identifier
PPARGC1A
In Other Studies (IDs)
170
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser

Gene details

HGNC symbol
PPARGC1A
Aliases
LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha) 
Common name
PPARG coactivator 1 alpha 
Description
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
604517
Ensembl
ENSG00000109819
UniProt/Swiss-Prot
A0A024R9Q9_HUMAN
Entrez Gene
10891
UniGene
527078
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ppargc1a
Mus musculus
Ppargc1a
Rattus norvegicus
Ppargc1a

In other databases

GenAge human genes

PRKCA

1.
Identifier
PRKCA
Cytogenetic Location
17q24.2
UCSC Genome Browser
View 17q24.2 on the UCSC genome browser

Gene details

HGNC symbol
PRKCA
Aliases
AAG6; PKCA; PRKACA; PKC-alpha 
Common name
protein kinase C alpha 
Description
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
5
OMIM
176960
Ensembl
ENSG00000154229
UniProt/Swiss-Prot
KPCA_HUMAN
Entrez Gene
5578
UniGene
531704
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
prkca
Mus musculus
Prkca
Rattus norvegicus
Prkca

In other databases

GenAge human genes
  • This gene is present as PRKCA

PRR5

1.
Identifier
PRR5
Cytogenetic Location
22q13.31
UCSC Genome Browser
View 22q13.31 on the UCSC genome browser

Gene details

HGNC symbol
PRR5
Aliases
PP610; PROTOR1; PROTOR-1; FLJ20185k 
Common name
proline rich 5 
Description
This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
OMIM
609406
Ensembl
ENSG00000186654
UniProt/Swiss-Prot
A0A024R4U5_HUMAN
Entrez Gene
55615
UniGene
102336
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
prr5
Mus musculus
Prr5
Rattus norvegicus
Prr5

PRR5L

1.
Identifier
PRR5L
Cytogenetic Location
11p13-p12
UCSC Genome Browser
View 11p13-p12 on the UCSC genome browser

Gene details

HGNC symbol
PRR5L
Aliases
PROTOR2 
Common name
proline rich 5 like 
Description
OMIM
611728
Ensembl
ENSG00000135362
UniProt/Swiss-Prot
B3KNU3_HUMAN
Entrez Gene
79899
UniGene
19987
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC557634
Mus musculus
Prr5l
Rattus norvegicus
Prr5l

RB1CC1

1.
Identifier
RB1CC1
Cytogenetic Location
8q11.23
UCSC Genome Browser
View 8q11.23 on the UCSC genome browser

Gene details

HGNC symbol
RB1CC1
Aliases
CC1; ATG17; FIP200; PPP1R131 
Common name
RB1 inducible coiled-coil 1 
Description
The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
OMIM
606837
Ensembl
ENSG00000023287
UniProt/Swiss-Prot
RBCC1_HUMAN
Entrez Gene
9821
UniGene
196102
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
atg-11
Danio rerio
uncharacterized_E7FF
Drosophila melanogaster
CG1347-RB
Mus musculus
Rb1cc1
Rattus norvegicus
Rb1cc1

RHEB

1.
Identifier
RHEB
Cytogenetic Location
7q36.1
UCSC Genome Browser
View 7q36.1 on the UCSC genome browser

Gene details

HGNC symbol
RHEB
Aliases
RHEB2 
Common name
Ras homolog enriched in brain 
Description
This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
OMIM
601293
Ensembl
ENSG00000106615
UniProt/Swiss-Prot
A0A090N900_HUMAN
Entrez Gene
6009
UniGene
283521
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rhebl1
Drosophila melanogaster
Rheb
Mus musculus
Rheb
Rattus norvegicus
Rheb
Schizosaccharomyces pombe
rhb1

RHOA

1.
Identifier
RHOA
Cytogenetic Location
3p21.31
UCSC Genome Browser
View 3p21.31 on the UCSC genome browser

Gene details

HGNC symbol
RHOA
Aliases
ARHA; ARH12; RHO12; RHOH12 
Common name
ras homolog family member A 
Description
This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
OMIM
165390
Ensembl
ENSG00000067560
UniProt/Swiss-Prot
A0A024R324_HUMAN
Entrez Gene
387
UniGene
247077
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rhoab
Mus musculus
Rhoa
Rattus norvegicus
Rhoa

RICTOR

1.
Identifier
RICTOR
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser

Gene details

HGNC symbol
RICTOR
Aliases
PIA; AVO3; hAVO3 
Common name
RPTOR independent companion of MTOR complex 2 
Description
RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
Other longevity studies of this gene
7
OMIM
609022
Ensembl
ENSG00000164327
UniProt/Swiss-Prot
RICTR_HUMAN
Entrez Gene
253260
UniGene
407926
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rict-1
Danio rerio
rictorb
Drosophila melanogaster
rictor
Mus musculus
Rictor
Rattus norvegicus
Rictor
Saccharomyces cerevisiae
TSC11
Schizosaccharomyces pombe
ste16

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Rictor
  • A homolog of this gene for Caenorhabditis elegans is present as rict-1
GenAge human genes
  • This gene is present as RICTOR

RPS6

1.
Identifier
RPS6
Cytogenetic Location
9p22.1
UCSC Genome Browser
View 9p22.1 on the UCSC genome browser

Gene details

HGNC symbol
RPS6
Aliases
S6 
Common name
ribosomal protein S6 
Description
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
OMIM
180460
Ensembl
ENSG00000137154
UniProt/Swiss-Prot
A2A3R6_HUMAN
Entrez Gene
6194
UniGene
408073
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rps-6
Danio rerio
zgc:92237
Drosophila melanogaster
RpS6
Mus musculus
Rps6
Rattus norvegicus
Rps6
Saccharomyces cerevisiae
RPS6A
Schizosaccharomyces pombe
rps6b

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as rps-6
  • A homolog of this gene for Saccharomyces cerevisiae is present as RPS6A

RPS6KB1

1.
Identifier
RPS6KB1
Cytogenetic Location
17q23.1
UCSC Genome Browser
View 17q23.1 on the UCSC genome browser

Gene details

HGNC symbol
RPS6KB1
Aliases
S6K; PS6K; S6K1; STK14A; p70-S6K; p70; S6KA; p70-alpha; S6K-beta-1; p70(S6K)-alpha 
Common name
ribosomal protein S6 kinase B1 
Description
This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
OMIM
608938
Ensembl
ENSG00000108443
UniProt/Swiss-Prot
KS6B1_HUMAN
Entrez Gene
6198
UniGene
463642
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rps6kb1b
Mus musculus
Rps6kb1
Rattus norvegicus
Rps6kb1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Rps6kb1

RPTOR

1.
Identifier
RPTOR
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser

Gene details

HGNC symbol
RPTOR
Aliases
KOG1; Mip1 
Common name
regulatory associated protein of MTOR complex 1 
Description
This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Other longevity studies of this gene
63
OMIM
607130
Ensembl
ENSG00000141564
UniProt/Swiss-Prot
Q6DKI0_HUMAN
Entrez Gene
57521
UniGene
133044
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
daf-15
Danio rerio
rptor
Drosophila melanogaster
raptor
Mus musculus
Rptor
Rattus norvegicus
Rptor
Saccharomyces cerevisiae
KOG1
Schizosaccharomyces pombe
mip1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as daf-15

RRAGA

1.
Identifier
RRAGA
Cytogenetic Location
9p22.1
UCSC Genome Browser
View 9p22.1 on the UCSC genome browser

Gene details

HGNC symbol
RRAGA
Aliases
FIP1; RAGA; FIP-1 
Common name
Ras related GTP binding A 
Description
OMIM
612194
Ensembl
ENSG00000155876
UniProt/Swiss-Prot
RRAGA_HUMAN
Entrez Gene
10670
UniGene
743260
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Rraga
Rattus norvegicus
Rraga

RRAGB

1.
Identifier
RRAGB
Cytogenetic Location
Xp11.21
UCSC Genome Browser
View Xp11.21 on the UCSC genome browser

Gene details

HGNC symbol
RRAGB
Aliases
RAGB; bA465E19.1 
Common name
Ras related GTP binding B 
Description
Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
OMIM
300725
Ensembl
ENSG00000083750
UniProt/Swiss-Prot
RRAGB_HUMAN
Entrez Gene
10325
UniGene
50282
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
raga-1
Danio rerio
rraga
Drosophila melanogaster
RagA
Mus musculus
Rragb
Rattus norvegicus
RragB
Saccharomyces cerevisiae
GTR1
Schizosaccharomyces pombe
gtr1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as GTR1
  • A homolog of this gene for Caenorhabditis elegans is present as raga-1
GenDR gene manipulations
  • A homolog of this gene for Saccharomyces cerevisiae is present as GTR1

RRAGC

1.
Identifier
RRAGC
Cytogenetic Location
1p34.3
UCSC Genome Browser
View 1p34.3 on the UCSC genome browser

Gene details

HGNC symbol
RRAGC
Aliases
GTR2; RAGC; TIB929 
Common name
Ras related GTP binding C 
Description
This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
OMIM
608267
Ensembl
ENSG00000116954
UniProt/Swiss-Prot
B4DQ03_HUMAN
Entrez Gene
64121
UniGene
532461
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ragc-1
Danio rerio
rragc
Mus musculus
Rragc
Rattus norvegicus
Rragc

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as ragc-1

RRAGD

1.
Identifier
RRAGD
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser

Gene details

HGNC symbol
RRAGD
Aliases
RAGD; bA11D8.2.1 
Common name
Ras related GTP binding D 
Description
RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
OMIM
608268
Ensembl
ENSG00000025039
UniProt/Swiss-Prot
RRAGD_HUMAN
Entrez Gene
58528
UniGene
31712
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rragd
Drosophila melanogaster
RagC
Mus musculus
Rragd
Rattus norvegicus
Rragd
Saccharomyces cerevisiae
GTR2
Schizosaccharomyces pombe
gtr2

SGK1

1.
Identifier
SGK1
In Other Studies (IDs)
890
Cytogenetic Location
6q23.2
UCSC Genome Browser
View 6q23.2 on the UCSC genome browser

Gene details

HGNC symbol
SGK1
Aliases
SGK 
Common name
serum/glucocorticoid regulated kinase 1 
Description
This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
Other longevity studies of this gene
1
OMIM
602958
Ensembl
ENSG00000118515
UniProt/Swiss-Prot
B7Z325_HUMAN
Entrez Gene
6446
UniGene
510078
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sgk1
Mus musculus
Sgk1
Rattus norvegicus
Sgk1

In other databases

GenAge microarray genes
  • This gene is present as SGK1
CellAge
  • This gene is present as SGK1

SREBF1

1.
Identifier
SREBF1
Cytogenetic Location
17p11.2
UCSC Genome Browser
View 17p11.2 on the UCSC genome browser

Gene details

HGNC symbol
SREBF1
Aliases
SREBP1; bHLHd1; SREBP1a; SREBP-1c 
Common name
sterol regulatory element binding transcription factor 1 
Description
This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
OMIM
184756
Ensembl
ENSG00000072310
UniProt/Swiss-Prot
A8MTU8_HUMAN
Entrez Gene
6720
UniGene
592123
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
srebf1
Mus musculus
Srebf1
Rattus norvegicus
Srebf1

In other databases

GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Srebf1
CellAge
  • This gene is present as SREBF1

TSC1

1.
Identifier
TSC1
Cytogenetic Location
9q34.13
UCSC Genome Browser
View 9q34.13 on the UCSC genome browser

Gene details

HGNC symbol
TSC1
Aliases
LAM; TSC 
Common name
tuberous sclerosis 1 
Description
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
OMIM
605284
Ensembl
ENSG00000165699
UniProt/Swiss-Prot
Q32NF0_HUMAN
Entrez Gene
7248
UniGene
370854
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tsc1b
Drosophila melanogaster
Tsc1
Mus musculus
Tsc1
Rattus norvegicus
Tsc1
Schizosaccharomyces pombe
tsc1

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as Tsc1

TSC2

1.
Identifier
TSC2
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser

Gene details

HGNC symbol
TSC2
Aliases
LAM; TSC4; PPP1R160 
Common name
tuberous sclerosis 2 
Description
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
191092
Ensembl
ENSG00000103197
UniProt/Swiss-Prot
B3KWH7_HUMAN
Entrez Gene
7249
UniGene
90303
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tsc2
Drosophila melanogaster
gig
Mus musculus
Tsc2
Rattus norvegicus
Tsc2
Schizosaccharomyces pombe
tsc2

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as gig
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as gig

ULK1

1.
Identifier
ULK1
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser

Gene details

HGNC symbol
ULK1
Aliases
ATG1; ATG1A; UNC51; hATG1; Unc51.1 
Common name
unc-51 like autophagy activating kinase 1 
Description
OMIM
603168
Ensembl
ENSG00000177169
UniProt/Swiss-Prot
ULK1_HUMAN
Entrez Gene
8408
UniGene
47061
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
unc-51
Danio rerio
ulk1b
Drosophila melanogaster
Atg1
Mus musculus
Ulk1
Rattus norvegicus
Ulk1
Saccharomyces cerevisiae
ATG1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as unc-51
  • A homolog of this gene for Saccharomyces cerevisiae is present as ATG1
  • A homolog of this gene for Drosophila melanogaster is present as Atg1
GenDR gene manipulations
  • A homolog of this gene for Caenorhabditis elegans is present as unc-51
  • A homolog of this gene for Saccharomyces cerevisiae is present as ATG1

YY1

1.
Identifier
YY1
Cytogenetic Location
14q32.2
UCSC Genome Browser
View 14q32.2 on the UCSC genome browser

Gene details

HGNC symbol
YY1
Aliases
DELTA; NF-E1; UCRBP; INO80S; YIN-YANG-1 
Common name
YY1 transcription factor 
Description
YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]
OMIM
600013
Ensembl
ENSG00000100811
UniProt/Swiss-Prot
TYY1_HUMAN
Entrez Gene
7528
UniGene
388927
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
yy1a
Drosophila melanogaster
pho
Mus musculus
Yy1
Rattus norvegicus
Yy1

References

Passtoors et al. (2013)

Other variants which are also part of this study