GenAge entry for HTT (Homo sapiens)

Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism

Gene name (HAGRID: 98)

HGNC symbol
HTT 
Aliases
IT15; HD 
Common name
huntingtin 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence directly linking the gene product to ageing in a mammalian model organism
Description

Mostly famous for causing Huntington disease, the exact functions of HTT are still unknown. While HTT appears to be involved in age-related changes [836], its exact role in human ageing is still being studied. In mice however, the deletion of the polyglutamine stretch resulted in the extension of mean and maximal lifespan [2135].

Cytogenetic information

Cytogenetic band
4p16.3
Location
3,074,510 bp to 3,243,960 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000050; urea cycle
GO:0000052; citrulline metabolic process
GO:0000132; establishment of mitotic spindle orientation
GO:0006606; protein import into nucleus
GO:0006888; ER to Golgi vesicle-mediated transport
GO:0006890; retrograde vesicle-mediated transport, Golgi to ER
GO:0007029; endoplasmic reticulum organization
GO:0007030; Golgi organization
GO:0007212; dopamine receptor signaling pathway
GO:0007283; spermatogenesis
GO:0007569; cell aging
And 30 more GO terms
Cellular component: GO:0005634; nucleus
GO:0005730; nucleolus
GO:0005737; cytoplasm
GO:0005770; late endosome
GO:0005776; autophagic vacuole
GO:0005783; endoplasmic reticulum
GO:0005794; Golgi apparatus
GO:0005829; cytosol
GO:0016234; inclusion body
GO:0030424; axon
GO:0030425; dendrite
And 3 more GO terms
Function: GO:0002039; p53 binding
GO:0005515; protein binding
GO:0008134; transcription factor binding
GO:0034452; dynactin binding
GO:0042802; identical protein binding
GO:0045505; dynein intermediate chain binding
GO:0048487; beta-tubulin binding
GO:0050809; diazepam binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, NCOR1, CREBBP, GRB2, SP1, TBP
STRING interaction network
Protein-Protein network diagram for HTT

Retrieve sequences for HTT

ORF
ORF
CDS
CDS

Homologs in model organisms

Drosophila melanogaster
htt
Danio rerio
htt
Mus musculus
Htt
Rattus norvegicus
Htt

In other databases

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

Selected references

External links

EPD
ORF Accession
NM_002111
CDS Accession
NP_002102
OMIM
143100
HPRD
00883
Ensembl
HTT
UniProt/Swiss-Prot
HD_HUMAN
GeneCards
HTT
Entrez Gene
3064
UniGene
518450
GenAtlas
HTT
Internet
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