SPRTN - SprT-like N-terminal domain Gene

Also Known as DVC1; PRO4323; spartan; C1orf124

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83932

About SPRTN

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:231,338,293-231,355,023 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 6.8), bone marrow (RPKM 3.1) and 24 other tissues.

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 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]

SPRTN Products (3)

mRNA Protein Name
NM_001010984.4 NP_001010984.1 DNA-dependent metalloprotease SPRTN isoform b
NM_001261462.3 NP_001248391.1 DNA-dependent metalloprotease SPRTN isoform c
NM_032018.7 NP_114407.3 DNA-dependent metalloprotease SPRTN isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables K63-linked polyubiquitin modification-dependent protein binding IDA
IDA: Inferred from direct assay
22681887 GOA
enables double-stranded DNA binding IDA
IDA: Inferred from direct assay
27852435 GOA
enables metalloendopeptidase activity IDA
IDA: Inferred from direct assay
27852435 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22681887 GOA
enables single-stranded DNA binding IDA
IDA: Inferred from direct assay
27871365 GOA
enables ubiquitin binding IDA
IDA: Inferred from direct assay
22681887 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
22681887 GOA
involved in interstrand cross-link repair IDA
IDA: Inferred from direct assay
36608669 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: Inferred from direct assay
22681887 GOA
involved in protein autoprocessing IDA
IDA: Inferred from direct assay
27852435 GOA
involved in protein-DNA covalent cross-linking repair IDA
IDA: Inferred from direct assay
27852435 GOA
involved in proteolysis IDA
IDA: Inferred from direct assay
27852435 GOA
involved in response to UV IDA
IDA: Inferred from direct assay
22681887 GOA
involved in translesion synthesis IDA
IDA: Inferred from direct assay
22681887 GOA
involved in translesion synthesis IMP
IMP: Inferred from mutant phenotype
23042605 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
27852435 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22681887 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPRTN Protein Structure

SprT-like

SprT-like: SprT-like family (45 - 212)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 489 a.a.
Protein Preferred Names Protein Names

DNA-dependent metalloprotease SPRTN

  • DNA damage protein targeting VCP

Related Diseases

Diseases Alias
Ruijs-Aalfs Syndrome

  • Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome

  • RJALS
Kenny-Caffey Syndrome, Type 2

  • KCS2

  • Kenny-Caffey Syndrome Type 2

  • Autosomal Dominant Kenny-Caffey Syndrome

  • Kenny Syndrome

  • Dwarfism, Cortical Thickening Of Tubular Bones, And Transient Hypocalcemia

  • Dwarfism, Cortical Thickening Of Tubular Bones And Transient Hypocalcemia

  • Kenny-Caffey Syndrome, Autosomal Dominant

  • Kenny-Caffey Syndrome 2

  • Dwarfism With Cortical Thickening Of Tubular Bones And Transient Hypocalcemia

  • Kenny-Caffey Syndrome
Childhood Germ Cell Cancer

  • Pediatric Germ Cell Tumor

  • Paediatric Germ Cell Cancer

  • Paediatric Germ Cell Neoplasm

  • Pediatric Germ Cell Cancer

  • Pediatric Germ Cell Neoplasm
Kenny-Caffey Syndrome

  • Kenny Syndrome
Hepatocellular Carcinoma

  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13720 SPRTN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SPRTN VGNC VGNC:35240
Macaca mulatta SPRTN VGNC VGNC:77989
Felis catus SPRTN VGNC VGNC:65648
Canis familiaris SPRTN VGNC VGNC:46765
Rattus norvegicus SPRTN RGD RGD:1559496
Mus musculus SPRTN MGD MGI:2685351
Others SPRTN NCBI