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    WDR6 WD repeat domain 6 [ Homo sapiens (human) ]

    Gene ID: 11180, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR6provided by HGNC
    Official Full Name
    WD repeat domain 6provided by HGNC
    Primary source
    HGNC:HGNC:12758
    See related
    Ensembl:ENSG00000178252 MIM:606031; AllianceGenome:HGNC:12758
    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
    Trm734
    Summary
    This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in ovary (RPKM 54.4), endometrium (RPKM 45.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR6 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49007391..49015951)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49035431..49043991)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49044824..49053384)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 Neighboring gene uncharacterized LOC124909376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49026394-49026957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49026958-49027520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49028085-49028646 Neighboring gene uncharacterized LOC124906235 Neighboring gene prolyl 4-hydroxylase, transmembrane Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49043602-49044590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49051026-49051863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49054789-49055560 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 3 Neighboring gene microRNA 425 Neighboring gene microRNA 191

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene. Li D, et al. Biochem Biophys Res Commun, 2000 Jul 21. PMID 10903905
    2. Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs. Li J, et al. EMBO Rep, 2020 Aug 5. PMID 32558197, Free PMC Article
    3. Identification of Restriction Factors by Human Genome-Wide RNA Interference Screening of Viral Host Range Mutants Exemplified by Discovery of SAMD9 and WDR6 as Inhibitors of the Vaccinia Virus K1L-C7L- Mutant. Sivan G, et al. mBio, 2015 Aug 4. PMID 26242627, Free PMC Article
    4. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Li D, et al. Cell Mol Life Sci, 2001 Dec. PMID 11814058, Free PMC Article
    5. Identification and characterization of an insulin receptor substrate 4-interacting protein in rat brain: implications for longevity. Chiba T, et al. Neurobiol Aging, 2009 Mar. PMID 17720279

    See all (136) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Replication of the K1L(-)C7L(-) mutant vaccinia virus virus was enabled by multiple siRNAs to SAMD9 or WDR6.
      Title: Identification of Restriction Factors by Human Genome-Wide RNA Interference Screening of Viral Host Range Mutants Exemplified by Discovery of SAMD9 and WDR6 as Inhibitors of the Vaccinia Virus K1L-C7L- Mutant.
    2. Transgenic rat gene WDR6 is expressed in the hypothalamus and interacts with insulin receptor substrate 4 (IRS-4) in the brain.
      Title: Identification and characterization of an insulin receptor substrate 4-interacting protein in rat brain: implications for longevity.
    3. Results suggest that WDR6 is implicated in the cell growth inhibitory pathway of LKB1 via regulation of p27(Kip1).
      Title: Association of LKB1 with a WD-repeat protein WDR6 is implicated in cell growth arrest and p27(Kip1) induction.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV Vif interacts with WDR6 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10218, FLJ52552, FLJ56107, MGC126756, MGC142027

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables enzyme regulator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_negative_effect G1 to G0 transition IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in negative regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in wobble position ribose methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    tRNA (34-2'-O)-methyltransferase regulator WDR6
    Names
    Trm734 homolog
    WD repeat-containing protein 6

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_029915.1 RefSeqGene

      Range
      5188..13748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320546.3 → NP_001307475.1  tRNA (34-2'-O)-methyltransferase regulator WDR6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, resulting in a novel 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK022719, AK309913, BC101707, DC377068, DC408104
      UniProtKB/TrEMBL
      B4E256
      Conserved Domains (3) summary
      COG2319
      Location:77 → 301
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:91 → 128
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:149 → 299
      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 ...

    2. NM_001320547.2 → NP_001307476.1  tRNA (34-2'-O)-methyltransferase regulator WDR6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK022719, AK304117, BC101707, DC300417
      Consensus CDS
      CCDS82772.1
      UniProtKB/TrEMBL
      B4E256, E9PDU5
      Related
      ENSP00000413432.1, ENST00000448293.5
      Conserved Domains (3) summary
      COG2319
      Location:52 → 276
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:66 → 103
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:124 → 274
      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. NM_018031.6 → NP_060501.4  tRNA (34-2'-O)-methyltransferase regulator WDR6 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK022719, AK092079, BC113467, DC389885
      Consensus CDS
      CCDS2782.3
      UniProtKB/Swiss-Prot
      B4DHK2, Q3MIT1, Q9NNW5, Q9UF63
      UniProtKB/TrEMBL
      A0A087X295
      Related
      ENSP00000477389.1, ENST00000608424.6
      Conserved Domains (2) summary
      sd00039
      Location:117 → 154
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:175 → 325
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49007391..49015951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447371.1 → XP_047303327.1  tRNA (34-2'-O)-methyltransferase regulator WDR6 isoform X1

      UniProtKB/TrEMBL
      A0A087X295

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49035431..49043991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345088.1 → XP_054201063.1  tRNA (34-2'-O)-methyltransferase regulator WDR6 isoform X1

      UniProtKB/TrEMBL
      A0A087X295
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NNW5.1 GenPept UniProtKB/Swiss-Prot:Q9NNW5

    Gene LinkOut

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

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