GenAge entry for SPRTN (Homo sapiens)

Gene name (HAGRID: 302)

HGNC symbol
SPRTN 
Aliases
DKFZP547N043; Spartan; DVC1; C1orf124 
Common name
SprT-like N-terminal domain 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
Description

SPRTN may play a role in DNA repair during replication of damaged DNA and in G2/M-checkpoint regulation. Mutations in SPRTN have been associated with Ruijs-Aalfs segmental progeroid syndrome, causing early onset hepatocellular carcinoma, genomic instability and progeroid features [3644]. Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy [3644]. All reported cases so far (N=3) developed hepatocellular carcinoma at an early age (14-17 years old).

Cytogenetic information

Cytogenetic band
1q42-q43
Location
231,337,936 bp to 231,355,027 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0006974; cellular response to DNA damage stimulus
GO:0009411; response to UV
GO:0019985; translesion synthesis
GO:0031398; positive regulation of protein ubiquitination
GO:0070987; error-free translesion synthesis
Cellular component: GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005694; chromosome
GO:0016607; nuclear speck
Function: GO:0003677; DNA binding
GO:0005515; protein binding
GO:0043130; ubiquitin binding
GO:0046872; metal ion binding
GO:0070530; K63-linked polyubiquitin binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
UBB, RPA1, VCP, PCNA, POLD1, HSPA9, HSPA1A, LMNB1, HSPA8, MLH1
STRING interaction network
Protein-Protein network diagram for SPRTN

Retrieve sequences for SPRTN

ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
dvc-1
Drosophila melanogaster
CG9203
Mus musculus
Sprtn
Rattus norvegicus
Sprtn

Selected references

External links

EPD
ORF Accession
NM_032018
CDS Accession
NP_114407
OMIM
616086
HPRD
13164
Ensembl
SPRTN
UniProt/Swiss-Prot
A0A024R3U2_HUMAN
GeneCards
SPRTN
Entrez Gene
83932
UniGene
GenAtlas
SPRTN
Internet
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