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

Gene ID: 11180, updated on 9-Apr-2023

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
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Genomic context

See WDR6 in Genome Data Viewer
Location:
3p21.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49007391..49015951)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49035431..49043991)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49044824..49053384)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene prolyl 4-hydroxylase, transmembrane Neighboring gene uncharacterized LOC124906235 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49043602-49044590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49051026-49051863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49054789-49055560 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene microRNA 425

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 protein binding IPI
Inferred from Physical Interaction
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
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
WD repeat-containing protein 6
Names
Trm734 homolog

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_001320546.3NP_001307475.1  WD repeat-containing protein 6 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/Swiss-Prot
    Q9NNW5
    UniProtKB/TrEMBL
    Q9H9M3
    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  WD repeat-containing protein 6 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/Swiss-Prot
    Q9NNW5
    UniProtKB/TrEMBL
    B4E256, E9PDU5, Q9H9M3
    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  WD repeat-containing protein 6 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
    Q9UF63
    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_2023_03

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  WD repeat-containing protein 6 isoform X1

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  WD repeat-containing protein 6 isoform X1