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

    Gene ID: 11180, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    EBI GWAS Catalog

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

    HIV-1 interactions

    Protein interactions

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

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    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.

    Genomic

    1. NG_029915.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001320546.3NP_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:77301
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:91128
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:149299
      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_001320547.2NP_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:52276
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:66103
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:124274
      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_018031.6NP_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:117154
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:175325
      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_047447371.1XP_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_054345088.1XP_054201063.1  tRNA (34-2'-O)-methyltransferase regulator WDR6 isoform X1

      UniProtKB/TrEMBL
      A0A087X295