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

RFWD3 - ring finger and WD repeat domain 3 Gene

Homo sapiens

Also known as FANCW; RNF201

Gene ID: 55159 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RFWD3

RING finger and WD repeat domain-containing protein 3

RFWD3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RFWD3 Q6PCD5 UBE2N Homo sapiens P61088 19549727
Intra
RFWD3 Q6PCD5 TP53 Homo sapiens P04637 20173098
Intra
RFWD3 Q6PCD5 TP53 Homo sapiens P04637 20173098
Intra
RFWD3 Q6PCD5 MDM2 Homo sapiens Q00987 20173098
Intra
RFWD3 Q6PCD5 MDM2 Homo sapiens Q00987-11 20173098
Intra
RFWD3 Q6PCD5 MDM2 Homo sapiens Q00987-11 20173098
Intra
RFWD3 Q6PCD5 RPA2 Homo sapiens P15927 28691929
Intra
RFWD3 Q6PCD5 RPA2 Homo sapiens P15927 28691929
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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