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SPRTN SprT-like N-terminal domain [ Homo sapiens (human) ]

Gene ID: 83932, updated on 1-Jun-2020

Summary

Official Symbol
SPRTNprovided by HGNC
Official Full Name
SprT-like N-terminal domainprovided by HGNC
Primary source
HGNC:HGNC:25356
See related
Ensembl:ENSG00000010072 MIM:616086
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DVC1; PRO4323; spartan; C1orf124
Summary
The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Expression
Broad expression in testis (RPKM 6.8), bone marrow (RPKM 3.1) and 24 other tissues See more
Orthologs

Genomic context

See SPRTN in Genome Data Viewer
Location:
1q42.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (231337980..231355023)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231473682..231506297)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 80 Neighboring gene exocyst complex component 8 Neighboring gene uncharacterized LOC107985360 Neighboring gene egl-9 family hypoxia inducible factor 1 Neighboring gene small nuclear ribonucleoprotein D2 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • dJ876B10.3, DKFZp547N043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
K63-linked polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
error-free translesion synthesis TAS
Traceable Author Statement
more info
 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
response to UV IDA
Inferred from Direct Assay
more info
PubMed 
translesion synthesis IDA
Inferred from Direct Assay
more info
PubMed 
translesion synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sprT-like domain-containing protein Spartan
Names
DNA damage protein targeting VCP
DNA damage-targeting VCP (p97) adaptor
zinc finger RAD18 domain-containing protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042052.1 RefSeqGene

    Range
    5358..22088
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010984.4NP_001010984.1  sprT-like domain-containing protein Spartan isoform b

    See identical proteins and their annotated locations for NP_001010984.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate segment in the 3' end which results in the introduction of an early stop codon, compared to variant 1. This variant encodes a protein (isoform B) with a shorter C-terminus which lacks a Rad18-like CCHC zinc finger domain, compared to isoform A.
    Source sequence(s)
    AL117352, AY358611, BC068478, BU630543
    Consensus CDS
    CCDS31054.1
    UniProtKB/Swiss-Prot
    Q9H040
    Related
    ENSP00000375731.4, ENST00000391858.8
    Conserved Domains (1) summary
    pfam10263
    Location:45213
    SprT-like; SprT-like family
  2. NM_001261462.3NP_001248391.1  sprT-like domain-containing protein Spartan isoform c

    See identical proteins and their annotated locations for NP_001248391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks a coding exon and has an alternate segment in the 3' end which results in the introduction of an early stop codon, compared to variant 1. This variant encodes a protein (isoform C) with a shorter C-terminus which lacks a Rad18-like CCHC zinc finger domain, compared to isoform A.
    Source sequence(s)
    AL117352, AY358611, BC068478, BU630543
    Consensus CDS
    CCDS58066.1
    UniProtKB/Swiss-Prot
    Q9H040
    Related
    ENSP00000008440.9, ENST00000008440.9
    Conserved Domains (1) summary
    pfam10263
    Location:45170
    SprT-like; SprT-like family
  3. NM_032018.7NP_114407.3  sprT-like domain-containing protein Spartan isoform a

    See identical proteins and their annotated locations for NP_114407.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (A).
    Source sequence(s)
    AL117352, BC068478, BU630543
    Consensus CDS
    CCDS1594.1
    UniProtKB/Swiss-Prot
    Q9H040
    UniProtKB/TrEMBL
    A0A024R3U2
    Related
    ENSP00000295050.7, ENST00000295050.12
    Conserved Domains (2) summary
    smart00734
    Location:453476
    ZnF_Rad18; Rad18-like CCHC zinc finger
    pfam10263
    Location:45213
    SprT-like; SprT-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    231337980..231355023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711818.3XP_006711881.1  sprT-like domain-containing protein Spartan isoform X1

    Conserved Domains (2) summary
    smart00734
    Location:410433
    ZnF_Rad18; Rad18-like CCHC zinc finger
    smart00731
    Location:43169
    SprT; SprT homologues
  2. XM_011544289.2XP_011542591.1  sprT-like domain-containing protein Spartan isoform X2

    Conserved Domains (2) summary
    smart00734
    Location:325348
    ZnF_Rad18; Rad18-like CCHC zinc finger
    cl19237
    Location:2384
    DUF45; Protein of unknown function DUF45
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