• Gene id: 55159

Gene Summary

• Gene Symbol: RFWD3   Gene   UCSC   Ensembl
• Aliases: FANCW, RNF201
• Gene name: ring finger and WD repeat domain 3
• Alternate names: E3 ubiquitin-protein ligase RFWD3, RING finger and WD repeat domain-containing protein 3, RING finger protein 201, RING-type E3 ubiquitin transferase RFWD3,
• Gene location: 16q23.1 (6406591: 6648507)     Exons: 23     NC_000008.11
• OMIM: 614151

Protein Summary

• Protein general information: Q6PCD5  
  • Name: E3 ubiquitin protein ligase RFWD3 (EC 2.3.2.27) (RING finger and WD repeat domain containing protein 3) (RING finger protein 201)
  • Length: 774  
  • Mass: 85094
• Sequence:

  MAHEAMEYDVQVQLNHAEQQPAPAGMASSQGGPALLQPVPADVVSSQGVPSILQPAPAEVISSQATPPLLQPAPQ
  LSVDLTEVEVLGEDTVENINPRTSEQHRQGSDGNHTIPASSLHSMTNFISGLQRLHGMLEFLRPSSSNHSVGPMR
  TRRRVSASRRARAGGSQRTDSARLRAPLDAYFQVSRTQPDLPATTYDSETRNPVSEELQVSSSSDSDSDSSAEYG
  GVVDQAEESGAVILEEQLAGVSAEQEVTCIDGGKTLPKQPSPQKSEPLLPSASMDEEEGDTCTICLEQWTNAGDH
  RLSALRCGHLFGYRCISTWLKGQVRKCPQCNKKARHSDIVVLYARTLRALDTSEQERMKSSLLKEQMLRKQAELE
  SAQCRLQLQVLTDKCTRLQRRVQDLQKLTSHQSQNLQQPRGSQAWVLSCSPSSQGQHKHKYHFQKTFTVSQAGNC
  RIMAYCDALSCLVISQPSPQASFLPGFGVKMLSTANMKSSQYIPMHGKQIRGLAFSSYLRGLLLSASLDNTIKLT
  SLETNTVVQTYNAGRPVWSCCWCLDEANYIYAGLANGSILVYDVRNTSSHVQELVAQKARCPLVSLSYMPRAASA
  AFPYGGVLAGTLEDASFWEQKMDFSHWPHVLPLEPGGCIDFQTENSSRHCLVTYRPDKNHTTIRSVLMEMSYRLD
  DTGNPICSCQPVHTFFGGPTCKLLTKNAIFQSPENDGNILVCTGDEAANSALLWDAASGSLLQDLQTDQPVLDIC
  PFEVNRNSYLATLTEKMVHIYKWE

• Structural information:
  • Interpro: IPR037381  IPR015943  IPR001680  IPR036322  IPR001841   IPR013083  
  • Prosite: PS50089
  • PDB: 6CVZ
  • PDBsum: 6CVZ
  • DIP: 52688
  • STRING: ENSP00000354361
• Other Databases: GeneCards:  RFWD3  Malacards:  RFWD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0090734	site of DNA damage	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0090734	site of DNA damage	IDA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0031297	replication fork processing	IDA	biological process
GO:0035861	site of double-strand break	IDA	colocalizes with
GO:0016567	protein ubiquitination	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0031571	mitotic G1 DNA damage checkpoint	IMP	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:0036297	interstrand cross-link repair	IMP	biological process
GO:2000001	regulation of DNA damage checkpoint	IMP	biological process
GO:0097371	MDM2/MDM4 family protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031052	chromosome breakage	ISS	biological process
GO:0005634	nucleus	IMP	cellular component
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0036297	interstrand cross-link repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031052	chromosome breakage	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)