RFWD3

Chr 16q23.1

ring finger and WD repeat domain 3

Aliases:: FLJ10520, RNF201, FANCW
MANE:: ENST00000361070.9

OMIM: 614151 ↗NCBI: 55159 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RFWD3 · Q6PCD5

v62025-08-01

Predicted Aligned Error matrix for RFWD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.1/ 100

Confident

774 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)13%
Low(50–70)4%
Very low(< 50)37%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Fanconi anemia, complementation group W
0.58
Fanconi anemia
0.45
plasma cell myeloma
0.43
lymphoid neoplasm
0.43
testicular germ cell tumor
0.38
neurodegenerative disease
0.37
testicular cancer
0.30
restless legs syndrome
0.28
Abnormality of the immune system
0.25
hepatocellular carcinoma
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase RFWD3

E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, PubMed:33321094). Plays a key role in RPA-mediated DNA damage signaling and repair (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, PubMed:28691929). Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination (PubMed:26474068, PubMed:28575657, PubMed:28575658). Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint (PubMed:20173098). May act by catalyzing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:20173098). In response to ionizing radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53 (PubMed:20173098). Required to translesion DNA synthesis across DNA-protein cross-link adducts by catalyzing ubiquitination of proteins on single-stranded DNA (ssDNA) (PubMed:33321094)

Curated MONDO disease pages that list RFWD3 among their top associated genes.

lymphoid neoplasmRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with RFWD3