Entity Details

Primary name RFWD3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6PCD5
EntryNameRFWD3_HUMAN
FullNameE3 ubiquitin-protein ligase RFWD3
TaxID9606
Evidenceevidence at protein level
Length774
SequenceStatuscomplete
DateCreated2007-02-20
DateModified2021-06-02

Ontological Relatives

GenesRFWD3

GO terms

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GOName
GO:0000724 double-strand break repair via homologous recombination
GO:0002039 p53 binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006974 cellular response to DNA damage stimulus
GO:0010212 response to ionizing radiation
GO:0016567 protein ubiquitination
GO:0016605 PML body
GO:0031052 chromosome breakage
GO:0031297 replication fork processing
GO:0031571 mitotic G1 DNA damage checkpoint signaling
GO:0036297 interstrand cross-link repair
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity
GO:0090734 site of DNA damage
GO:0097371 MDM2/MDM4 family protein binding
GO:2000001 regulation of DNA damage checkpoint

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR001841 Zinc finger, RING-typeDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR037381 E3 ubiquitin-protein ligase RFWD3FamilyFamily

Diseases

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Disease IDSourceNameDescription
617784 OMIMFanconi anemia, complementation group W (FANCW)A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by variants affecting the gene represented in this entry.