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RFWD3 ring finger and WD repeat domain 3 [ Homo sapiens (human) ]

Gene ID: 55159, updated on 2-Oct-2018

Summary

Official Symbol
RFWD3provided by HGNC
Official Full Name
ring finger and WD repeat domain 3provided by HGNC
Primary source
HGNC:HGNC:25539
See related
Ensembl:ENSG00000168411 MIM:614151; Vega:OTTHUMG00000177368
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FANCW; RNF201
Expression
Broad expression in testis (RPKM 15.0), bone marrow (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See RFWD3 in Genome Data Viewer
Location:
16q23.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (74621396..74666892, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (74655297..74700779, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene golgi glycoprotein 1 Neighboring gene ribosomal protein S10 pseudogene 23 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 7 Neighboring gene thymopoietin pseudogene 2 Neighboring gene mixed lineage kinase domain like pseudokinase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
FANCONI ANEMIA, COMPLEMENTATION GROUP W
MedGen: C4521564 OMIM: 617784 GeneReviews: Fanconi Anemia
not available

NHGRI GWAS Catalog

Description
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10520

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MDM2/MDM4 family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
chromosome breakage ISS
Inferred from Sequence or Structural Similarity
more info
 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic G1 DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
PML body IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
site of DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase RFWD3
Names
RING finger and WD repeat domain-containing protein 3
RING finger protein 201
RING-type E3 ubiquitin transferase RFWD3
NP_060594.3
XP_005256078.1
XP_005256079.1
XP_006721291.1
XP_011521493.1
XP_016878880.1
XP_016878881.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_018124.3NP_060594.3  E3 ubiquitin-protein ligase RFWD3

    See identical proteins and their annotated locations for NP_060594.3

    Status: VALIDATED

    Source sequence(s)
    BC002574, BC059371, BM467919, BP872110
    Consensus CDS
    CCDS32486.1
    UniProtKB/Swiss-Prot
    Q6PCD5
    Related
    ENSP00000354361.4, OTTHUMP00000256464, ENST00000361070.8, OTTHUMT00000436506
    Conserved Domains (5) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:496762
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    74621396..74666892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721228.3XP_006721291.1  E3 ubiquitin-protein ligase RFWD3 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:479715
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
  2. XM_005256021.4XP_005256078.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    See identical proteins and their annotated locations for XP_005256078.1

    UniProtKB/Swiss-Prot
    Q6PCD5
    Related
    ENSP00000460049.1, OTTHUMP00000256465, ENST00000571750.5, OTTHUMT00000436507
    Conserved Domains (5) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:496762
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_017023392.1XP_016878881.1  E3 ubiquitin-protein ligase RFWD3 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:479715
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
  4. XM_011523191.3XP_011521493.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    See identical proteins and their annotated locations for XP_011521493.1

    UniProtKB/Swiss-Prot
    Q6PCD5
    Conserved Domains (5) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:496762
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. XM_017023391.1XP_016878880.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    UniProtKB/Swiss-Prot
    Q6PCD5
    Conserved Domains (5) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:496762
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. XM_005256022.4XP_005256079.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    See identical proteins and their annotated locations for XP_005256079.1

    UniProtKB/Swiss-Prot
    Q6PCD5
    Conserved Domains (5) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    cd00162
    Location:286333
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam13863
    Location:344402
    DUF4200; Domain of unknown function (DUF4200)
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:496762
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
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