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

Retrieve sequences for SPRTN

ORF: ORF
CDS: CDS

Homologs in model organisms

Caenorhabditis elegans: dvc-1
Danio rerio: SPRTN
Drosophila melanogaster: CG9203
Mus musculus: Sprtn
Rattus norvegicus: Sprtn