SPRTN (SprT-like N-terminal domain)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 83932
Gene name SprT-like N-terminal domain
Gene symbol SPRTN
Synonyms (NCBI Gene)
C1orf124DVC1PRO4323spartan
Chromosome 1
Chromosome location 1q42.2
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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs527236212 A>- Pathogenic Coding sequence variant, frameshift variant, 3 prime UTR variant
rs527236213 A>G Pathogenic Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant, intron variant
rs587593493 GGTA>- Pathogenic Coding sequence variant, frameshift variant, splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
72
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (72)
miRTarBase ID miRNA Experiments Reference
MIRT016242 hsa-miR-548b-3p Sequencing 20371350
MIRT021124 hsa-miR-186-5p Sequencing 20371350
MIRT045975 hsa-miR-125b-5p CLASH 23622248
MIRT045716 hsa-miR-125a-5p CLASH 23622248
MIRT713269 hsa-miR-512-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 27852435, 27871365, 27871366, 32649882
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IDA 27852435, 27871365, 27871366, 32649882
GO:0003697 Function Single-stranded DNA binding IDA 27871365, 32649882
GO:0003697 Function Single-stranded DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616086 25356 ENSG00000010072
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H040
Protein name DNA-dependent metalloprotease SPRTN (EC 3.4.24.-) (DNA damage protein targeting VCP) (DVC1) (Protein with SprT-like domain at the N terminus) (Spartan)
Protein function DNA-dependent metalloendopeptidase that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:27852435, PubMed:27871365, PubMed:2787
PDB 5IY4 , 6MDW , 6MDX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10263 SprT-like 45 → 153 SprT-like family Domain
Sequence 
MDDDLMLALRLQEEWNLQEAERDHAQESLSLVDASWELVDPTPDLQALFVQFNDQFFWGQ
LEAVEVKWSVRMTLCAGICSYEGKGGMCSIRLSEPLLKLRPRKDLVETLLHEMIHAYLFV
TNNDKDREGHGPEFCKHMHRINSLTGANITVYHTFHDEVDEYRRHWWRCNGPCQHRPPYY
GYVKRATNREPSAHDYWWAEHQKTCGGTYIKIKEPENYSKKGKGKAKLGKEPVLAAENKD
KPNRGEAQLVIPFSGKGYVLGETSNLPSPGKLITSHAINKTQDLLNQNHSANAVRPNSKI
KVKFEQNGSSKNSHLVSPAVSNSHQNVLSNYFPRVSFANQKAFRGVNGSPRISVTVGNIP
KNSVSSSSQRRVSSSKISLRNSSKVTESASVMPSQDVSGSEDTFPNKRPRLEDKTVFDNF
FIKKEQIKSSGNDPKYSTTTAQNSSSSSSQSKMVNCPVCQNEVLESQINEHLDWCLEGDS
IKVKSEESL
Sequence length 489
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Translesion Synthesis by POLH
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Progeroid features-hepatocellular carcinoma predisposition syndrome Pathogenic rs587593493, rs527236213, rs527236212 RCV000150049
RCV000150050
RCV000150048
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
SPRTN-related disorder Benign; Uncertain significance rs2437150, rs188253824, rs78209580 RCV003976207
RCV003899784
RCV003940541
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Inhibit 28053116
Carcinoma Hepatocellular Associate 28053116, 30893605
Cutis Laxa Autosomal Recessive Type IIB Associate 28053116
DNA Virus Infections Associate 27871366, 34879279
Drug Related Side Effects and Adverse Reactions Associate 27871366
Neoplasms Associate 27871366, 33558481
Progeria Associate 30893605