SPRTN (SprT-like N-terminal domain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83932
Gene name Gene Name - the full gene name approved by the HGNC.
SprT-like N-terminal domain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPRTN
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf124, DVC1, PRO4323, spartan
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616086 25356 ENSG00000010072
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Progeroid features hepatocellular carcinoma predisposition syndrome progeroid features-hepatocellular carcinoma predisposition syndrome rs587593493, rs527236213, rs527236212 N/A
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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