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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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 EBI GWAS CatalogPubMed

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

SHGC-76942 (e-PCR)
- UniSTS:63762

RH80256 (e-PCR)
- UniSTS:86164

NoName (e-PCR)
- UniSTS:483062

Clone Names

FLJ10218, FLJ52552, FLJ56107, MGC126756, MGC142027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

NG_029915.1 RefSeqGene

Range

5188..13748

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...