2. Gene
  3. RAD17 - RAD17 checkpoint clamp loader component Gene

RAD17 - RAD17 checkpoint clamp loader component Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RAD17 检查点钳位加载器组件

种属: Homo sapiens

同用名: CCYC; R24L; RAD24; HRAD17; RAD17SP

基因 ID: 5884 | 基因类型: protein coding

关于 RAD17

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:69,369,293-69,414,801 (from NCBI)

This gene has 20 transcripts (splice variants), 1 gene allele, 199 orthologues and is associated with 59 phenotypes. Broad expression in testis (RPKM 28.4), lymph node (RPKM 9.8) and 25 other tissues.

功能概要

该基因编码的蛋白质与 Schizosaccharomyces pombe rad17 的基因产物高度相似，后者是细胞周期停滞和 DNA 损伤修复以响应 DNA 损伤所需的细胞周期检查点基因。该蛋白与 DNA 复制因子 C (RFC) 具有很强的相似性，可以与 RFC 形成复合物。这种蛋白质在 DNA 损伤前与染色质结合，并在损伤后被检查点激酶 ATR 磷酸化。这种蛋白质在 DNA 损伤后将 RAD1-RAD9-HUS1 检查点蛋白质复合物募集到染色质上，这可能是其磷酸化所必需的。这种蛋白质的磷酸化是 DNA 损伤诱导的细胞周期 G2 停滞所必需的，并且被认为是 DNA 损伤细胞检查点信号传导过程中的关键早期事件。已经报道了该基因的多个选择性剪接转录物变体，其编码四种不同的蛋白质同种型。已鉴定出位于 7 号和 13 号染色体上的两个假基因。[RefSeq 提供，2013 年 7 月]

The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]

RAD17 基因产物(9)

mRNA Protein Name
NM_001278622.1 NP_001265551.1 cell cycle checkpoint protein RAD17 isoform 1
NM_002873.1 NP_002864.1 cell cycle checkpoint protein RAD17 isoform 1
NM_133338.3 NP_579916.1 cell cycle checkpoint protein RAD17 isoform 1
NM_133339.2 NP_579917.1 cell cycle checkpoint protein RAD17 isoform 2
NM_133340.2 NP_579918.1 cell cycle checkpoint protein RAD17 isoform 3
NM_133341.2 NP_579919.1 cell cycle checkpoint protein RAD17 isoform 4
NM_133342.3 NP_579920.1 cell cycle checkpoint protein RAD17 isoform 1
NM_133343.2 NP_579921.1 cell cycle checkpoint protein RAD17 isoform 1
NM_133344.3 NP_579922.1 cell cycle checkpoint protein RAD17 isoform 1

RAD17 蛋白结构

Rad17

Rad17: Rad17 cell cycle checkpoint protein (84 - 593)

  • 0
  • 200
  • 400
  • 600
  • 681 a.a.
蛋白主名 其他名称

cell cycle checkpoint protein RAD17

RAD1 homolog

RAD17 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
Intra RAD17 O75943 MRE11 Homo sapiens P49959
Anti Bait CoIP
24534091
Intra RAD17 O75943 NBN Homo sapiens O60934
Pull Down
24534091
Intra RAD17 O75943 NBN Homo sapiens O60934
Anti Bait CoIP
24534091
Intra RAD17 O75943 RAD50 Homo sapiens Q92878
Anti Bait CoIP
24534091
Intra RAD17 O75943 FZR1 Homo sapiens Q9UM11
Anti Bait CoIP
20424596
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
Seminoma

Seminoma, Pure
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
Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1
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
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11597 RAD17 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus RAD17 RGD RGD:1309515
Canis familiaris RAD17 VGNC VGNC:45311
Macaca mulatta RAD17 VGNC VGNC:84484
Felis catus RAD17 VGNC VGNC:69211
Mus musculus RAD17 MGD MGI:1333807
Bos taurus RAD17 VGNC VGNC:33678
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