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

    Gene ID: 55159, updated on 11-Jun-2021

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RFWD3 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (74621396..74666892, complement)
    105.20201022 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 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 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
    Meta-analysis identifies four new loci associated with testicular germ cell tumor.
    GeneReviews: Not available

    Pathways from PubChem

    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
    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
    PubMed 
    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
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    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

    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
      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
      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:553
      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:553
      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:553
      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:553
      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:553
      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
      Q6PCD5
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 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 (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
    2. 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 (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. XM_017023391.1XP_016878880.1  E3 ubiquitin-protein ligase RFWD3 isoform X1

      UniProtKB/Swiss-Prot
      Q6PCD5
      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_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 (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
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