Free for academic non-profit institutions. Other users need a Commercial license

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
  • SprT-Like Domain-Containing Protein Spartan 3
  • 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 Hepatocellular Carcinoma. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and DNA Double-Strand Break Repair. 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

Regulatory Elements for SPRTN Gene

Enhancers for SPRTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F231393 1.3 Ensembl ENCODE 18.7 +58.8 58802 5.4 HDGF PKNOX1 SIN3A ZNF2 YY1 ZNF766 FOS ZNF263 SP3 MXD4 EGLN1 SPRTN C1orf131 EXOC8 GNPAT PIR59803
GH01F231357 1.2 Ensembl ENCODE 18.9 +20.9 20944 1.1 HDAC1 PKNOX1 WRNIP1 SIN3A ZNF2 RAD21 RFX5 ZNF121 ZNF335 ZNF366 SPRTN EXOC8 DISC1 PIR59803
GH01F231335 1.4 Ensembl ENCODE 8.5 +1.2 1201 5.6 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNRPD2P2 RN7SL837P RPS24P4 LINC01737 LINC00582 EGLN1 DISC1 SPRTN EXOC8 PIR59803
GH01F231359 0.9 Ensembl ENCODE 10.7 +22.1 22098 0.4 BHLHE40 MAX CEBPB USF2 ZNF7 RAD51 POLR2A ZNF512 MYC PRDM1 SPRTN EXOC8 DISC1 PIR59803
GH01F231392 1.1 Ensembl 7.8 +55.8 55797 0.2 HDGF ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 EGLN1 SPRTN PIR59803
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPRTN on UCSC Golden Path with GeneCards custom track

Promoters for SPRTN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000554846 996 3001 PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF416

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

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};

    Three dimensional structures from OCA and Proteopedia for SPRTN Gene

    Alternative splice isoforms for SPRTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPRTN Gene

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

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:0005515 protein binding IPI 22681887
GO:0043130 ubiquitin binding IDA 22681887
GO:0046872 metal ion 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

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005634 nucleus IEA,IDA 22681887
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0016607 nuclear speck IDA --
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

Gene Ontology (GO) - Biological Process for SPRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 22681887
GO:0009411 response to UV IDA 22681887
GO:0019985 translesion synthesis IMP 23042605
GO:0031398 positive regulation of protein ubiquitination IDA 22681887
genes like me logo Genes that share ontologies with SPRTN: view

No data available for SIGNOR curated interactions for SPRTN Gene

Transcripts for SPRTN Gene

Unigene Clusters for SPRTN Gene

SprT-like N-terminal domain:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for SPRTN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of SPRTN Gene:

SPRTN

SOURCE GeneReport for Unigene cluster for SPRTN Gene:

Hs.554892
genes like me logo Genes that share expression patterns with SPRTN: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia SPRTN 34 35
  • 86.64 (n)
cow
(Bos Taurus)
Mammalia SPRTN 34 35
  • 82.92 (n)
rat
(Rattus norvegicus)
Mammalia Sprtn 34
  • 75.67 (n)
mouse
(Mus musculus)
Mammalia Sprtn 34 16 35
  • 74.5 (n)
oppossum
(Monodelphis domestica)
Mammalia SPRTN 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRTN 35
  • 6 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H1ORF124 34
  • 59.24 (n)
SPRTN 35
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPRTN 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sprtn 34
  • 57.91 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101886162 34
  • 60.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9203 35
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dvc-1 35
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToOne
Species where no ortholog for SPRTN was found in the sources mined by GeneCards:
  • 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
rs527236213 Ruijs-Aalfs syndrome (RJALS) [MIM:616200], Pathogenic 231,347,825(+) TGCCT(A/G)TTTAT intron-variant, upstream-variant-2KB, reference, missense
rs527236212 Pathogenic 231,352,612(+) CAGAT(-/A)AACCC reference, utr-variant-3-prime, frameshift-variant
rs587593493 Pathogenic 231,351,570(+) AATAA(-/AGGT)ACCTT reference, frameshift-variant, splice-donor-variant
rs727502868 Pathogenic 231,352,614(+) GATAA(-/A)CCCAA reference, utr-variant-3-prime, frameshift-variant
rs483352868 Uncertain significance 231,336,952(+) CATTT(C/T)CGGCC upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPRTN Gene

Variant ID Type Subtype PubMed ID
esv3589109 CNV loss 21293372
nsv819245 CNV loss 19587683

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

Human Gene Mutation Database (HGMD)
SPRTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRTN Gene

Disorders for SPRTN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ruijs-aalfs syndrome
  • progeroid features-hepatocellular carcinoma predisposition syndrome
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
- 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 64
  2. DNA-protein crosslink repair: proteases as DNA repair enzymes. (PMID: 25496645) Stingele J. … Jentsch S. (Trends Biochem. Sci. 2015) 2 3 64
  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 64
  4. Spartan/C1orf124 is important to prevent UV-induced mutagenesis. (PMID: 22894931) Machida Y. … Machida Y.J. (Cell Cycle 2012) 3 4 64
  5. Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis. (PMID: 22902628) Ghosal G. … Chen J. (J. Biol. Chem. 2012) 3 4 64

Products for SPRTN Gene

Sources for SPRTN Gene

Content
Loading form....