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

Gene ID: 55159, updated on 25-Jan-2024

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; AllianceGenome:HGNC:25539
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
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]
Expression
Broad expression in testis (RPKM 15.0), bone marrow (RPKM 14.7) and 25 other tissues See more
Orthologs
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Genomic context

See RFWD3 in Genome Data Viewer
Location:
16q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (74621399..74666877, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (80668129..80713619, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (74655297..74700775, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene golgi glycoprotein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74586439-74586940 Neighboring gene MPRA-validated peak2638 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74599495-74599996 Neighboring gene ribosomal protein S10 pseudogene 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74601639-74602138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7698 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:74654659-74655158 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7699 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:74715965-74716163 Neighboring gene thymopoietin pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:74728193-74728362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11108 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Fanconi anemia, complementation group W
MedGen: C4521564 OMIM: 617784 GeneReviews: Fanconi Anemia
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10520

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MDM2/MDM4 family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in PML body IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in site of DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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_001357463.1
NP_001357464.1
NP_001357465.1
NP_001357466.1
NP_001357468.1
NP_001357469.1
NP_001357471.1
NP_001357472.1
NP_060594.3
XP_005256079.1
XP_006721291.1
XP_011521493.1
XP_016878880.1
XP_047290279.1
XP_047290280.1
XP_054236617.1
XP_054236618.1
XP_054236619.1
XP_054236620.1
XP_054236621.1
XP_054236622.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001370534.1NP_001357463.1  E3 ubiquitin-protein ligase RFWD3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Consensus CDS
    CCDS32486.1
    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
    Conserved Domains (3) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  2. NM_001370535.1NP_001357464.1  E3 ubiquitin-protein ligase RFWD3 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Consensus CDS
    CCDS32486.1
    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
    Related
    ENSP00000460049.1, ENST00000571750.5
    Conserved Domains (3) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  3. NM_001370536.1NP_001357465.1  E3 ubiquitin-protein ligase RFWD3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Conserved Domains (2) summary
    COG2319
    Location:479715
    WD40; WD40 repeat [General function prediction only]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  4. NM_001370537.1NP_001357466.1  E3 ubiquitin-protein ligase RFWD3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Conserved Domains (3) summary
    COG2319
    Location:208496
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:264302
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:565
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  5. NM_001370539.1NP_001357468.1  E3 ubiquitin-protein ligase RFWD3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Conserved Domains (3) summary
    COG2319
    Location:208496
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:264302
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:565
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  6. NM_001370540.1NP_001357469.1  E3 ubiquitin-protein ligase RFWD3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Conserved Domains (3) summary
    COG2319
    Location:208496
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:264302
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:565
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  7. NM_001370542.1NP_001357471.1  E3 ubiquitin-protein ligase RFWD3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Conserved Domains (3) summary
    COG2319
    Location:208496
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:264302
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:565
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  8. NM_001370543.1NP_001357472.1  E3 ubiquitin-protein ligase RFWD3 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC109599
    Conserved Domains (3) summary
    COG2319
    Location:208496
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:264302
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:565
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  9. NM_018124.4NP_060594.3  E3 ubiquitin-protein ligase RFWD3 isoform 1

    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
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
    Related
    ENSP00000354361.4, ENST00000361070.9
    Conserved Domains (3) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    74621399..74666877 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523191.4XP_011521493.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    See identical proteins and their annotated locations for XP_011521493.1

    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
    Conserved Domains (3) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  2. XM_047434323.1XP_047290279.1  E3 ubiquitin-protein ligase RFWD3 isoform X2

  3. XM_017023391.2XP_016878880.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
    Conserved Domains (3) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  4. XM_006721228.4XP_006721291.1  E3 ubiquitin-protein ligase RFWD3 isoform X2

    Conserved Domains (2) summary
    COG2319
    Location:479715
    WD40; WD40 repeat [General function prediction only]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  5. XM_005256022.5XP_005256079.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    See identical proteins and their annotated locations for XP_005256079.1

    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
    Conserved Domains (3) summary
    COG2319
    Location:486774
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:500537
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:283331
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins
  6. XM_047434324.1XP_047290280.1  E3 ubiquitin-protein ligase RFWD3 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:208496
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:264302
    7WD40; WD40 repeat [structural motif]
    cd16450
    Location:565
    mRING-C3HGC3_RFWD3; Modified RING finger, C3HGC3-type, found in RING finger and WD repeat domain-containing protein 3 (RFWD3) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    80668129..80713619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380644.1XP_054236619.1  E3 ubiquitin-protein ligase RFWD3 isoform X2

  2. XM_054380642.1XP_054236617.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
  3. XM_054380643.1XP_054236618.1  E3 ubiquitin-protein ligase RFWD3 isoform X2

  4. XM_054380646.1XP_054236621.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
  5. XM_054380645.1XP_054236620.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

    UniProtKB/Swiss-Prot
    A8K585, B2RE35, D3DUJ8, Q5XKR3, Q6PCD5, Q9H9Q3, Q9NVT4
  6. XM_054380647.1XP_054236622.1  E3 ubiquitin-protein ligase RFWD3 isoform X3