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Aliases for SPRTN Gene

Aliases for SPRTN Gene

  • SprT-Like N-Terminal Domain 2 3
  • 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 Symbols for SPRTN Gene

  • C1orf124

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. 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys84, Lys98, Lys203, Lys271, Lys280, Lys341, Lys361, Lys407, Lys414, Lys423, Lys424, and Lys435

Other Protein References for SPRTN Gene

No data available for DME Specific Peptides for SPRTN Gene

Domains for SPRTN Gene

Protein Domains for SPRTN Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SPRTN_HUMAN
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).:
    • Q9H040
  • Contains 1 SprT-like domain.:
    • Q9H040
Family:
  • Belongs to the Spartan family.:
    • Q9H040
Similarity:
  • Contains 1 UBZ-type zinc finger.:
    • Q9H040
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

miRNA for SPRTN Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for SPRTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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 for SPRTN Gene

SuperPathways for SPRTN Gene

No Data Available

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:0009411 response to UV IDA 22681887
GO:0019985 translesion synthesis TAS --
GO:0031398 positive regulation of protein ubiquitination IDA 22681887
genes like me logo Genes that share ontologies with SPRTN: view

No data available for Pathways by source for SPRTN Gene

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 expressions with SPRTN: view

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 36
  • 99.52 (n)
  • 99.8 (a)
SPRTN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPRTN 36
  • 82.92 (n)
  • 77.48 (a)
SPRTN 37
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPRTN 36
  • 86.64 (n)
  • 83.47 (a)
SPRTN 37
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sprtn 36
  • 74.5 (n)
  • 72.35 (a)
Sprtn 16
Sprtn 37
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPRTN 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPRTN 37
  • 6 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sprtn 36
  • 75.67 (n)
  • 70.48 (a)
chicken
(Gallus gallus)
Aves C3H1ORF124 36
  • 59.24 (n)
  • 52.65 (a)
SPRTN 37
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPRTN 37
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sprtn 36
  • 57.91 (n)
  • 52.77 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101886162 36
  • 60.62 (n)
  • 59.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9203 37
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dvc-1 37
  • 44 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs203741 -- 231,349,165(+) tagag(A/G)caggg intron-variant
rs203742 -- 231,352,247(+) CCGTA(C/T)CTTCA utr-variant-3-prime, intron-variant
rs203743 -- 231,352,339(+) TTCAA(C/G)GTAAA utr-variant-3-prime, intron-variant
rs203744 -- 231,353,793(+) GACAT(A/G)CTGAC utr-variant-3-prime, intron-variant
rs203752 -- 231,340,290(-) tcctc(A/G)gttca intron-variant

Relevant External Links for SPRTN Gene

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

No data available for Structural Variations from Database of Genomic Variants (DGV) for SPRTN Gene

Disorders for SPRTN Gene

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.

(1) MalaCards Diseases for SPRTN Gene

Search for SPRTN Gene in MalaCards »
genes like me logo Genes that share disorders with SPRTN: view

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
  2. Spartan/C1orf124 is important to prevent UV-induced mutagenesis. (PMID: 22894931) Machida Y. … Machida Y.J. (Cell Cycle 2012) 3 4
  3. 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
  4. Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance. (PMID: 22987070) Juhasz S. … Haracska L. (Nucleic Acids Res. 2012) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for SPRTN Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate SPRTN
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for SPRTN
    • Block miRNA regulation of SPRTN using miScript Target Protectors

    Sources for SPRTN Gene

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