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  2. HUS1 - HUS1 checkpoint clamp component Gene

HUS1 - HUS1 checkpoint clamp component Gene

中文名称:HUS1 检查点钳组件

种属: Homo sapiens

同用名: hHUS1

基因 ID: 3364 | 基因类型: protein coding

关于 HUS1

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:47,963,288-47,979,615 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 3.6), thyroid (RPKM 3.6) and 25 other tissues.

功能概要

由该基因编码的蛋白质是进化上保守的、基因毒素激活的检查点复合物的组成部分,该检查点复合物参与响应 DNA 损伤的细胞周期停滞。该蛋白与检查点蛋白 RAD9 和 RAD1 形成异源三聚体复合物。为了应对 DNA 损伤,三聚体复合物与另一种蛋白质复合物相互作用,该蛋白质复合物由检查点蛋白 RAD17 和复制因子 C (RFC) 的四个小亚基组成,后者将结合的复合物加载到染色质上。 DNA 损伤诱导的染色质结合已被证明取决于检查点激酶 ATM 的激活,并且被认为是早期检查点信号事件。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 2 月]

The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]

HUS1 基因产物(2)

mRNA Protein Name
NM_001363683.2 NP_001350612.1 checkpoint protein HUS1 isoform 2
NM_004507.4 NP_004498.1 checkpoint protein HUS1 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 protein binding IPI
IPI: 通过物理相互作用推断
10359610 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
21659603 GOA
involved in cellular response to ionizing radiation IDA
IDA: 通过直接分析推断
21659603 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of checkpoint clamp complex IDA
IDA: 通过直接分析推断
31776186 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10846170 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

HUS1 蛋白结构

Hus1

Hus1: Hus1-like protein (1 - 279)

  • 0
  • 100
  • 200
  • 280 a.a.
蛋白主名 其他名称

checkpoint protein HUS1

HUS1 checkpoint homolog

HUS1 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
HUS1 O60921 GRIP1 Homo sapiens Q9Y3R0-3
Y2H Prey Pooling
32296183
种属内
HUS1 O60921 GRIP1 Homo sapiens Q9Y3R0-3
Y2H Array
32296183
种属内
HUS1 O60921 GRIP1 Homo sapiens Q9Y3R0-3
Validated Y2H
32296183
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Anti Bait CoIP
10359610
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Y2H Array
32296183
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Anti Tag CoIP
33961781
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Y2H
10359610
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Anti Tag CoIP
28514442
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
X-Ray Diffraction
19464297
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Y2H Prey Pooling
32296183
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Density Sedimentation
14624239
种属内
HUS1 O60921 RAD9A Homo sapiens Q99638
Validated Y2H
32296183
种属内
HUS1 O60921 DCUN1D5 Homo sapiens Q9BTE7
Validated Y2H
32296183
种属内
HUS1 O60921 C4orf46 Homo sapiens Q504U0
Y2H Array
32296183
种属内
HUS1 O60921 C4orf46 Homo sapiens Q504U0
Validated Y2H
32296183
种属内
HUS1 O60921 C4orf46 Homo sapiens Q504U0
Y2H Prey Pooling
32296183
种属内
HUS1 O60921 RAD1 Homo sapiens O60671
Anti Tag CoIP
35271311
种属内
HUS1 O60921 RAD1 Homo sapiens O60671
Density Sedimentation
14624239
种属内
HUS1 O60921 RAD1 Homo sapiens O60671
X-Ray Diffraction
19464297
种属内
HUS1 O60921 RAD1 Homo sapiens O60671
Anti Tag CoIP
33961781
种属内
HUS1 O60921 RAD1 Homo sapiens O60671
Anti Tag CoIP
10359610
种属内
HUS1 O60921 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
32296183
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
Fanconi Anemia, Complementation Group G

Fanconi Anemia Complementation Group G

FANCG

Noonan Syndrome 4

NS4

Noonan Syndrome, Type 4

Noonan Syndrome 3

NS3

Noonan Syndrome, Type 3

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
Mus musculus HUS1 MGD MGI:1277962
Bos taurus HUS1 VGNC VGNC:30008
Canis familiaris HUS1 VGNC VGNC:41840
Macaca mulatta HUS1 VGNC VGNC:73546
Rattus norvegicus HUS1 RGD RGD:1591976