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  2. CLSPN - claspin Gene

CLSPN - claspin Gene

中文名称:扣环

种属: Homo sapiens

基因 ID: 63967 | 基因类型: protein coding

关于 CLSPN

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:35,720,213-35,769,978 (from NCBI)

This gene has 6 transcripts (splice variants) and 211 orthologues. Broad expression in bone marrow (RPKM 2.6), testis (RPKM 2.4) and 16 other tissues.

功能概要

该基因的产物是检查点激酶 1 的重要上游调节因子,并触发细胞周期的检查点停滞以响应复制应激或 DNA 损伤。在正常 S 期期间,该蛋白质也是有效 DNA 复制所必需的。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 6 月]

The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

CLSPN 基因产物(3)

mRNA Protein Name
NM_001190481.2 NP_001177410.1 claspin isoform 2
NM_001330490.2 NP_001317419.1 claspin isoform 3
NM_022111.4 NP_071394.2 claspin isoform 1
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 DNA secondary structure binding IDA
IDA: 通过直接分析推断
5226314 GOA
enables anaphase-promoting complex binding IPI
IPI: 通过物理相互作用推断
18662541 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16885022 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage checkpoint signaling IMP
IMP: 通过突变表型推断
16963448 GOA
acts upstream of DNA replication checkpoint signaling IDA
IDA: 通过直接分析推断
16123041 GOA
acts upstream of or within DNA replication checkpoint signaling IDA
IDA: 通过直接分析推断
12766152 GOA
involved in activation of protein kinase activity IDA
IDA: 通过直接分析推断
16885022 GOA
involved in mitotic DNA replication checkpoint signaling IMP
IMP: 通过突变表型推断
16885022 GOA
involved in mitotic G2 DNA damage checkpoint signaling IDA
IDA: 通过直接分析推断
18662541 GOA
involved in peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
16885022 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
12766152 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
蛋白主名 其他名称

claspin

claspin homolog

CLSPN 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLSPN Q9HAW4 CDC45 Homo sapiens O75419
Pull Down
23910567
种属内
CLSPN Q9HAW4 CHEK1 Homo sapiens O14757
Protein Kinase Assay
16963448
种属内
CLSPN Q9HAW4 CHEK1 Homo sapiens O14757
Pull Down
16963448
种属内
CLSPN Q9HAW4 CHEK1 Homo sapiens O14757
Anti Tag CoIP
16963448
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CLSPN RGD RGD:1309083
Macaca mulatta CLSPN VGNC VGNC:99869
Bos taurus CLSPN VGNC VGNC:27465
Canis familiaris CLSPN VGNC VGNC:39362
Felis catus CLSPN VGNC VGNC:60978
Mus musculus CLSPN MGD MGI:2445153