SPRTN - SprT-like N-terminal domain Gene

中文名称：类似 SprT 的 N 末端结构域

种属: Homo sapiens

同用名: DVC1; PRO4323; spartan; C1orf124

基因 ID: 83932 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质可能在受损 DNA 复制期间的 DNA 修复中发挥作用。这种蛋白质募集含有 valosin 的蛋白质 (p97) 到停滞的 DNA 复制叉，它可以防止过度的跨损伤 DNA 合成并限制 DNA 损伤诱导突变的数量。它还可能参与与复制相关的 G2/M 检查点调节。小鼠缺乏类似的蛋白质会导致染色体不稳定和早老表型。该基因的突变与 Ruijs-Aalfs 综合征 (RJALS) 有关。已经鉴定出可变剪接的转录物变体。[RefSeq 提供，2015 年 3 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables K63-linked polyubiquitin modification-dependent protein binding	IDA IDA: 通过直接分析推断	22681887	GOA
enables double-stranded DNA binding	IDA IDA: 通过直接分析推断	27852435	GOA
enables metalloendopeptidase activity	IDA IDA: 通过直接分析推断	27852435	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22681887	GOA
enables single-stranded DNA binding	IDA IDA: 通过直接分析推断	27871365	GOA
enables ubiquitin binding	IDA IDA: 通过直接分析推断	22681887	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	22681887	GOA
involved in interstrand cross-link repair	IDA IDA: 通过直接分析推断	36608669	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: 通过直接分析推断	22681887	GOA
involved in protein autoprocessing	IDA IDA: 通过直接分析推断	27852435	GOA
involved in protein-DNA covalent cross-linking repair	IDA IDA: 通过直接分析推断	27852435	GOA
involved in proteolysis	IDA IDA: 通过直接分析推断	27852435	GOA
involved in response to UV	IDA IDA: 通过直接分析推断	22681887	GOA
involved in translesion synthesis	IDA IDA: 通过直接分析推断	22681887	GOA
involved in translesion synthesis	IMP IMP: 通过突变表型推断	23042605	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	27852435	GOA
located in nucleus	IDA IDA: 通过直接分析推断	22681887	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SPRTN 蛋白结构

SprT-like

0
100
200
300
400
489 a.a.

蛋白主名

其他名称

DNA-dependent metalloprotease SPRTN

DNA damage protein targeting VCP

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13720	SPRTN Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SPRTN - SprT-like N-terminal domain Gene

关于 SPRTN

功能概要

SPRTN 基因产物(3)

SPRTN 蛋白结构

关联疾病

直系同源

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SPRTN - SprT-like N-terminal domain Gene

关于 SPRTN

功能概要

SPRTN 基因产物(3)

SPRTN 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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