RFWD3 - ring finger and WD repeat domain 3 Gene

Also Known as FANCW; RNF201

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55159

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 References
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

RFWD3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P811080 RFWD3 Antibody WB, IHC-P Human, Mouse, Rat

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