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Aliases for SPRTN Gene

Aliases for SPRTN Gene

  • SprT-Like N-Terminal Domain 2 3 5
  • DNA Damage-Targeting VCP (P97) Adaptor 2 3
  • DNA Damage Protein Targeting VCP 3 4
  • C1orf124 3 4
  • Spartan 3 4
  • DVC1 3 4
  • Protein With SprT-Like Domain At The N Terminus 4
  • Zinc Finger RAD18 Domain-Containing Protein 3
  • Chromosome 1 Open Reading Frame 124 2
  • SprT-Like Domain At The N Terminus 2
  • PRO4323 3

External Ids for SPRTN Gene

Previous HGNC Symbols for SPRTN Gene

  • C1orf124

Previous GeneCards Identifiers for SPRTN Gene

  • GC01P231473

Summaries for SPRTN Gene

Entrez Gene Summary for SPRTN Gene

  • 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]

GeneCards Summary for SPRTN Gene

SPRTN (SprT-Like N-Terminal Domain) is a Protein Coding gene. Diseases associated with SPRTN include ruijs-aalfs syndrome and progeroid features-hepatocellular carcinoma predisposition syndrome. Among its related pathways are DNA Double-Strand Break Repair and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. GO annotations related to this gene include ubiquitin binding and K63-linked polyubiquitin binding.

UniProtKB/Swiss-Prot for SPRTN Gene

  • Regulator of UV-induced DNA damage response: acts as a reader of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to sites of DNA damage, possibly leading to extraction of DNA polymerase eta (POLH) by VCP/p97 to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage.

Gene Wiki entry for SPRTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPRTN Gene

Genomics for SPRTN Gene

Genomic Location for SPRTN Gene

Chromosome:
1
Start:
231,337,104 bp from pter
End:
231,370,551 bp from pter
Size:
33,448 bases
Orientation:
Plus strand

Genomic View for SPRTN Gene

Genes around SPRTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRTN Gene

No data available for Regulatory Elements for SPRTN Gene

Proteins for SPRTN Gene

  • Protein details for SPRTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H040-SPRTN_HUMAN
    Recommended name:
    SprT-like domain-containing protein Spartan
    Protein Accession:
    Q9H040
    Secondary Accessions:
    • B1AKT0
    • B5MEF7
    • Q5TE78
    • Q6UWW6
    • Q96BC5
    • Q96KA0

    Protein attributes for SPRTN Gene

    Size:
    489 amino acids
    Molecular mass:
    55134 Da
    Quaternary structure:
    • Interacts with PCNA (when ubiquitinated). Interacts with RAD18. Interacts (via its SHP-box) with VCP/p97. Interacts with KCTD13 and POLD3.
    SequenceCaution:
    • Sequence=BAB55037.1; Type=Frameshift; Positions=224; Evidence={ECO:0000305};

    Alternative splice isoforms for SPRTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPRTN Gene

Proteomics data for SPRTN Gene at MOPED

Post-translational modifications for SPRTN Gene

  • Ubiquitination at Lys 84, Lys 98, Lys 203, Lys 271, Lys 280, Lys 341, Lys 361, Lys 407, Lys 414, Lys 423, Lys 424, and Lys 435
  • Modification sites at PhosphoSitePlus

Other Protein References for SPRTN Gene

No data available for DME Specific Peptides for SPRTN Gene

Domains & Families for SPRTN Gene

Protein Domains for SPRTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPRTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H040

UniProtKB/Swiss-Prot:

SPRTN_HUMAN :
  • The PIP-box mediates the interaction with PCNA, while the UBZ-type zinc finger mediates binding to Lys-48- and Lys-63-linked polyubiquitin (PubMed:22894931, PubMed:22681887, PubMed:23042607, PubMed:23042605 and PubMed:22987070).
  • Belongs to the Spartan family.
  • Contains 1 UBZ-type zinc finger.
Domain:
  • The PIP-box mediates the interaction with PCNA, while the UBZ-type zinc finger mediates binding to Lys-48- and Lys-63-linked polyubiquitin (PubMed:22894931, PubMed:22681887, PubMed:23042607, PubMed:23042605 and PubMed:22987070).
  • Contains 1 SprT-like domain.
Family:
  • Belongs to the Spartan family.
Similarity:
  • Contains 1 UBZ-type zinc finger.
genes like me logo Genes that share domains with SPRTN: view

No data available for Gene Families for SPRTN Gene

Function for SPRTN Gene

Molecular function for SPRTN Gene

UniProtKB/Swiss-Prot Function:
Regulator of UV-induced DNA damage response: acts as a reader of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to sites of DNA damage, possibly leading to extraction of DNA polymerase eta (POLH) by VCP/p97 to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage.

Gene Ontology (GO) - Molecular Function for SPRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0070530 K63-linked polyubiquitin binding IDA 22681887
genes like me logo Genes that share ontologies with SPRTN: view
genes like me logo Genes that share phenotypes with SPRTN: view

Human Phenotype Ontology for SPRTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPRTN Gene

MGI Knock Outs for SPRTN:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPRTN Gene

Localization for SPRTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRTN Gene

Nucleus. Chromosome. Note=Localizes to sites of UV damage via the PIP-box. Recruited to stalled relication forks at sites of replication stress.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPRTN Gene COMPARTMENTS Subcellular localization image for SPRTN gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SPRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SPRTN: view

Pathways & Interactions for SPRTN Gene

genes like me logo Genes that share pathways with SPRTN: view

Interacting Proteins for SPRTN Gene

Gene Ontology (GO) - Biological Process for SPRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0006974 cellular response to DNA damage stimulus IDA 22681887
GO:0070987 error-free translesion synthesis TAS --
genes like me logo Genes that share ontologies with SPRTN: view

No data available for SIGNOR curated interactions for SPRTN Gene

Drugs & Compounds for SPRTN Gene

No Compound Related Data Available

Transcripts for SPRTN Gene

Unigene Clusters for SPRTN Gene

SprT-like N-terminal domain:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPRTN Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2: - -
SP3:

Relevant External Links for SPRTN Gene

GeneLoc Exon Structure for
SPRTN
ECgene alternative splicing isoforms for
SPRTN

Expression for SPRTN Gene

mRNA expression in normal human tissues for SPRTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for SPRTN Gene Hs.554892

genes like me logo Genes that share expression patterns with SPRTN: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SPRTN Gene

Orthologs for SPRTN Gene

This gene was present in the common ancestor of animals.

Orthologs for SPRTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPRTN 35
  • 99.52 (n)
  • 99.8 (a)
SPRTN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPRTN 36
  • 77 (a)
OneToOne
SPRTN 35
  • 82.92 (n)
  • 77.48 (a)
dog
(Canis familiaris)
Mammalia SPRTN 35
  • 86.64 (n)
  • 83.47 (a)
SPRTN 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sprtn 16
Sprtn 35
  • 74.5 (n)
  • 72.35 (a)
Sprtn 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPRTN 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRTN 36
  • 6 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sprtn 35
  • 75.67 (n)
  • 70.48 (a)
chicken
(Gallus gallus)
Aves C3H1ORF124 35
  • 59.24 (n)
  • 52.65 (a)
SPRTN 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPRTN 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sprtn 35
  • 57.91 (n)
  • 52.77 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101886162 35
  • 60.62 (n)
  • 59.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9203 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dvc-1 36
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for SPRTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPRTN Gene

ENSEMBL:
Gene Tree for SPRTN (if available)
TreeFam:
Gene Tree for SPRTN (if available)

Paralogs for SPRTN Gene

No data available for Paralogs for SPRTN Gene

Variants for SPRTN Gene

Sequence variations from dbSNP and Humsavar for SPRTN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2437150 - 231,352,778(-) AATTA(A/G)GTCTT intron-variant, reference, missense, utr-variant-3-prime
VAR_072708 Ruijs-Aalfs syndrome (RJALS)
rs203743 -- 231,352,339(+) TTCAA(C/G)GTAAA intron-variant, utr-variant-3-prime
rs203744 -- 231,353,793(+) GACAT(A/G)CTGAC intron-variant, utr-variant-3-prime
rs203752 -- 231,340,290(-) tcctc(A/G)gttca intron-variant

Variation tolerance for SPRTN Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPRTN Gene

HapMap Linkage Disequilibrium report
SPRTN
Human Gene Mutation Database (HGMD)
SPRTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPRTN Gene

Disorders for SPRTN Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPRTN Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
ruijs-aalfs syndrome
  • rjals
progeroid features-hepatocellular carcinoma predisposition syndrome
  • ruijs-aalfs syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SPRTN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPRTN_HUMAN
  • Ruijs-Aalfs syndrome (RJALS) [MIM:616200]: A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma. {ECO:0000269 PubMed:25261934}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPRTN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPRTN
genes like me logo Genes that share disorders with SPRTN: view

No data available for Genatlas for SPRTN Gene

Publications for SPRTN Gene

  1. Spartan/C1orf124, a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response. (PMID: 22681887) Centore R.C. … Zou L. (Mol. Cell 2012) 2 3 4 67
  2. DNA-protein crosslink repair: proteases as DNA repair enzymes. (PMID: 25496645) Stingele J. … Jentsch S. (Trends Biochem. Sci. 2015) 3
  3. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. (PMID: 25261934) Lessel D. … Kubisch C. (Nat. Genet. 2014) 3
  4. Spartan deficiency causes genomic instability and progeroid phenotypes. (PMID: 25501849) Maskey R.S. … Machida Y.J. (Nat Commun 2014) 3
  5. Regulation of error-prone translesion synthesis by Spartan/C1orf124. (PMID: 23254330) Kim M.S. … Machida Y.J. (Nucleic Acids Res. 2013) 3

Products for SPRTN Gene

Sources for SPRTN Gene

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