SPRTN - SprT-like N-terminal domain Gene

Homo sapiens

Also known as DVC1; PRO4323; spartan; C1orf124

Gene ID: 83932 | Gene type: protein coding

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

SPRTN Protein Structure

SprT-like

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13720	SPRTN Human Pre-designed siRNA Set A		/	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

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