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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 nameGene Name - the full gene name approved by the HGNC.
SprT-like N-terminal domain
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SPRTN
SynonymsGene synonyms aliases
C1orf124, DVC1, PRO4323, spartan
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 27852435, 27871365, 27871366, 32649882
GO:0003690 Function Double-stranded DNA binding IDA 27852435, 27871365, 27871366, 32649882
GO:0003697 Function Single-stranded DNA binding IDA 27871365, 32649882
GO:0004222 Function Metalloendopeptidase activity IDA 27852435, 27871365, 27871366, 32649882
GO:0005515 Function Protein binding IPI 22681887, 22894931, 22902628, 23042605, 23042607
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Translesion Synthesis by POLH
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cockayne syndrome Cockayne Syndrome rs121917900, rs121917901, rs121917902, rs387906262, rs2132552521, rs121917903, rs1590474873, rs121917904, rs121434323, rs121434324, rs121434325, rs121434326, rs121913028, rs185142838, rs527236039, rs786205176, rs786205175, rs765825423, rs786205174, rs786205173, rs786205172, rs786205171, rs786205170, rs373227647, rs4253196, rs151242354, rs774791374, rs202080674, rs786205169, rs767247987, rs786205167, rs371739894, rs786205168, rs786205166, rs368728467, rs797045562, rs751838040, rs143367518, rs1043679457, rs1554073177, rs199754807, rs1131691783, rs772801089, rs751292948, rs1554875536, rs906755254, rs1482664387, rs1305258765, rs1554073117, rs1554073175, rs201464610, rs1468231556, rs1404477615, rs774047625, rs1554076239, rs897535441, rs1554073420, rs1554074597, rs1476095782, rs372237310, rs1554072713, rs1554073316, rs774542633, rs1198241866, rs766980240, rs1441655600, rs751448793, rs754978734, rs771781694, rs577021605, rs748379243, rs770499406, rs1564725764, rs1580023012, rs1561502158, rs148393161, rs1590406503, rs1010201937, rs1580007152, rs370657735, rs780538788, rs1851015811, rs1272960343, rs1850531575
Lipodystrophy Lipodystrophy rs553668, rs766817317
Progeroid features hepatocellular carcinoma predisposition syndrome Progeroid features-hepatocellular carcinoma predisposition syndrome rs587593493, rs527236213, rs527236212
Unknown
Disease name Disease term dbSNP ID References
Capsular cataract Posterior subcapsular cataract
Clinodactyly Clinodactyly of fingers, Clinodactyly
Congenital pectus excavatum Congenital pectus excavatum
Dwarfism Dwarfism

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