2. Gene
  3. RFWD3 - ring finger and WD repeat domain 3 Gene

RFWD3 - ring finger and WD repeat domain 3 Gene

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

中文名称：无名指和 WD 重复结构域 3

种属: Homo sapiens

同用名: FANCW; RNF201

基因 ID: 55159 | 基因类型: protein coding

关于 RFWD3

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:74,621,399-74,666,877 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues and is associated with 66 phenotypes. Broad expression in testis (RPKM 15.0), bone marrow (RPKM 14.7) and 25 other tissues.

功能概要

启用 MDM2/MDM4 家族蛋白结合活性； p53 结合活性；和泛素蛋白连接酶活性。参与多个过程，包括 DNA 代谢过程；调节细胞周期相变；和对电离辐射的反应。位于核质和 DNA 损伤部位。与双链断裂位点共定位。与范可尼贫血有关。 [由基因组资源联盟提供，2022 年 4 月]

Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein Ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of DNA damage. Colocalizes with site of double-strand break. Implicated in Fanconi anemia. [provided by Alliance of Genome Resources, Apr 2022]

RFWD3 基因产物(9)

mRNA Protein Name
NM_001370534.1 NP_001357463.1 E3 ubiquitin-protein ligase RFWD3 isoform 1
NM_001370535.1 NP_001357464.1 E3 ubiquitin-protein ligase RFWD3 isoform 1
NM_001370536.1 NP_001357465.1 E3 ubiquitin-protein ligase RFWD3 isoform 2
NM_001370537.1 NP_001357466.1 E3 ubiquitin-protein ligase RFWD3 isoform 3
NM_001370539.1 NP_001357468.1 E3 ubiquitin-protein ligase RFWD3 isoform 3
NM_001370540.1 NP_001357469.1 E3 ubiquitin-protein ligase RFWD3 isoform 3
NM_001370542.1 NP_001357471.1 E3 ubiquitin-protein ligase RFWD3 isoform 3
NM_001370543.1 NP_001357472.1 E3 ubiquitin-protein ligase RFWD3 isoform 3
NM_018124.4 NP_060594.3 E3 ubiquitin-protein ligase RFWD3 isoform 1

RFWD3 蛋白结构

zf-RING_2

zf-RING_2: Ring finger domain (285 - 330)

WD40

WD40: WD domain, G-beta repeat (496 - 524)

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

E3 ubiquitin-protein ligase RFWD3

RING finger and WD repeat domain-containing protein 3

RFWD3 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 RFWD3 Q6PCD5 UBE2N Homo sapiens P61088
Y2H Array
19549727
Intra RFWD3 Q6PCD5 TP53 Homo sapiens P04637
Pull Down
20173098
Intra RFWD3 Q6PCD5 TP53 Homo sapiens P04637
Anti Bait CoIP
20173098
Intra RFWD3 Q6PCD5 MDM2 Homo sapiens Q00987
Anti Bait CoIP
20173098
Intra RFWD3 Q6PCD5 MDM2 Homo sapiens Q00987-11
Anti Tag CoIP
20173098
Intra RFWD3 Q6PCD5 MDM2 Homo sapiens Q00987-11
Pull Down
20173098
Intra RFWD3 Q6PCD5 RPA2 Homo sapiens P15927
Confocal
28691929
Intra RFWD3 Q6PCD5 RPA2 Homo sapiens P15927
Anti Tag CoIP
28691929
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 W

FANCW
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
Colon Lymphoma

Colonic Lymphoma

Lymphoma Of Colon
Immunodeficiency 26

Severe Combined Immunodeficiency Due To Dna-Pkcs Deficiency

Scid Due To Dna-Pkcs Deficiency

Imd26

Immunodeficiency 26, With Or Without Neurologic Abnormalities
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc
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-RS11878 RFWD3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RFWD3 VGNC VGNC:76820
Rattus norvegicus RFWD3 RGD RGD:1305243
Canis familiaris RFWD3 VGNC VGNC:45502
Felis catus RFWD3 VGNC VGNC:64586
Bos taurus RFWD3 VGNC VGNC:33893
Mus musculus RFWD3 MGD MGI:2384584
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