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    WDR20 WD repeat domain 20 [ Homo sapiens ]

    Gene ID: 91833, updated on 21-May-2012
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    Summary

    Official Symbol
    WDR20provided by HGNC
    Official Full Name
    WD repeat domain 20provided by HGNC
    Primary source
    HGNC:19667
    See related
    Ensembl:ENSG00000140153; HPRD:11679; Vega:OTTHUMG00000171753
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMR; FLJ27314; FLJ33659; MGC33177; MGC33183; DKFZp686B2131
    Summary
    This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
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    Genomic context

    Location :
    14q32.31
    Sequence :
    Chromosome: 14; NC_000014.8 (102606189..102690010)
    See WDR20 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene dynein, cytoplasmic 1, heavy chain 1 Neighboring gene heat shock protein 90kDa alpha (cytosolic), class A member 1 Neighboring gene MOK protein kinase Neighboring gene zinc finger protein 839

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Regulation of histone H2A and H2B deubiquitination and Xenopus development by USP12 and USP46. Joo HY, et al. J Biol Chem, 2011 Mar 4. PMID 21183687.
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    3. WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex. Kee Y, et al. J Biol Chem, 2010 Apr 9. PMID 20147737.
    4. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.
    5. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. Vanderwerf SM, et al. Blood, 2009 Dec 17. PMID 19850743.

    See all (15) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. WDR20 serves as a stimulatory subunit for preserving and regulating the activity of the subset of the UAF1 x USP12 complexes
      Title: WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:124884 BioGRID:107699 COL11A2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:119967 FBXW5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:115436 OPTN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:111186 PDHA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:116843 PHLPP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:116674 PHLPP2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:111572 PKN2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:114909 POLR1C    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:112702 SURF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:124884 BioGRID:113885 UBL4A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:119239 UBXN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:128522 USP12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:115284 USP12P1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124884 BioGRID:122327 USP46    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:124884 BioGRID:121649 WDR48    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124884 BioGRID:113361 YWHAB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124884 BioGRID:113365 YWHAH    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the WDR20 gene: The WDR20 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)
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    General protein information

    Preferred Names
    WD repeat-containing protein 20
    Names
    WD repeat-containing protein 20
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    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_001242414.1 → NP_001229343.1  WD repeat-containing protein 20 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the central and 3' coding regions, and in the 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct and significantly shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AL832242, BC028387, BP363522
      Consensus CDS
      CCDS55942.1
      UniProtKB/TrEMBL
      F8W9S4
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Related
      ENSP00000299135, OTTHUMP00000247455, ENST00000299135, OTTHUMT00000415298

    2. NM_001242415.1 → NP_001229344.1  WD repeat-containing protein 20 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct and significantly shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AL359402, BC030654, BP363522
      Consensus CDS
      CCDS55944.1
      Related
      ENSP00000314209, OTTHUMP00000246771, ENST00000322340, OTTHUMT00000414961

    3. NM_001242416.1 → NP_001229345.1  WD repeat-containing protein 20 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (6) that is shorter than isoform 1.
      Source sequence(s)
      AF327354, AK225852, AL832242, BP363522
      Consensus CDS
      CCDS55945.1
      UniProtKB/TrEMBL
      G3V2F8
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Related
      ENSP00000450636, OTTHUMP00000246774, ENST00000556807, OTTHUMT00000414964
      Conserved Domains (2) summary
      COG2319
      Location:167 – 503
      Blast Score: 116
      COG2319; FOG: WD40 repeat [General function prediction only]
      cl02567
      Location:88 – 258
      Blast Score: 192
      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 ...

    4. NM_001242417.1 → NP_001229346.1  WD repeat-containing protein 20 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (7) has a distinct and longer C-terminus, compared to isoform 1.
      Source sequence(s)
      AK297727, BC028387, BP363522
      Consensus CDS
      CCDS55943.1
      UniProtKB/TrEMBL
      B4DN18
      UniProtKB/TrEMBL
      E7EUY8
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Related
      ENSP00000406084, ENST00000454394
      Conserved Domains (2) summary
      COG2319
      Location:259 – 599
      Blast Score: 116
      COG2319; FOG: WD40 repeat [General function prediction only]
      cl02567
      Location:180 – 350
      Blast Score: 193
      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. NM_001242418.1 → NP_001229347.1  WD repeat-containing protein 20 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate in-frame splice site in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (8) is the same length but has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL832500, BC028387, BP363522
      UniProtKB/TrEMBL
      Q5JPH5
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Conserved Domains (1) summary
      cl02567
      Location:161 – 331
      Blast Score: 195
      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. NM_144574.3 → NP_653175.2  WD repeat-containing protein 20 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AL832242, BC028387, BP363522
      Consensus CDS
      CCDS9969.1
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Related
      ENSP00000341037, OTTHUMP00000246773, ENST00000342702, OTTHUMT00000414963
      Conserved Domains (1) summary
      cl02567
      Location:149 – 319
      Blast Score: 194
      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 ...

    7. NM_181291.2 → NP_851808.1  WD repeat-containing protein 20 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AF327354, AK225852, AL832242, BP363522
      Consensus CDS
      CCDS9968.1
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Related
      ENSP00000335434, OTTHUMP00000246770, ENST00000335263, OTTHUMT00000414960
      Conserved Domains (1) summary
      cl02567
      Location:149 – 319
      Blast Score: 193
      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 ...

    8. NM_181308.2 → NP_851825.1  WD repeat-containing protein 20 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC028387, BP363522, BX248274
      Consensus CDS
      CCDS9970.1
      UniProtKB/TrEMBL
      H0YJJ1
      UniProtKB/TrEMBL
      Q86TU2
      UniProtKB/Swiss-Prot
      Q8TBZ3
      Related
      ENSP00000451633, OTTHUMP00000246776, ENST00000556511, OTTHUMT00000414966
      Conserved Domains (2) summary
      COG2319
      Location:167 – 507
      Blast Score: 117
      COG2319; FOG: WD40 repeat [General function prediction only]
      cl02567
      Location:88 – 258
      Blast Score: 193
      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 ...

    RNA

    1. NR_038354.1 RNA Sequence

      Description
      Transcript Variant: This variant (9) includes an additional exon in the central region, and alternate exon structure in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as found in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK090580, BC028387, BP363522

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      102606189..102690010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      82785154..82868856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181302.1: Suppressed sequence

      Description
      NM_181302.1: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL133223.5 None
    genomic AL359402.3 (62671..105787) None
    genomic CH471061.1 EAW81769.1
      EAW81770.1
      EAW81771.1
    mRNA AB209148.1 BAD92385.1
    mRNA AF327354.1 AAL56014.1
    mRNA AK054748.1 None
    mRNA AK056330.1 BAG51677.1
    mRNA AK090580.1 BAG52190.1
    mRNA AK090978.1 BAG52255.1
    mRNA AK130824.1 None
    mRNA AK225852.1 None
    mRNA AK297727.1 BAG60080.1
    mRNA AL133558.1 CAB63713.1
    mRNA AL832242.1 None
    mRNA AL832500.1 CAI46118.1
    mRNA BC028387.2 AAH28387.1
    mRNA BC030654.2 AAH30654.1
    mRNA BP363522.1 None
    mRNA BX248274.1 CAD62602.1
    mRNA BX647751.1 None
    other-genetic DQ891530.2 ABM82456.1
    other-genetic DQ894719.2 ABM85645.1
    other-genetic EU831767.1 ACE87285.1
    other-genetic EU831845.1 ACE86604.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q59GG1 GenPept UniProtKB/TrEMBL:Q59GG1
    Q5JPH5 GenPept UniProtKB/TrEMBL:Q5JPH5
    Q86TU2 GenPept UniProtKB/TrEMBL:Q86TU2
    Q8TBZ3.2 GenPept UniProtKB/Swiss-Prot:Q8TBZ3
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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