WDR5 WD repeat domain 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR5provided by HGNC
Official Full Name: WD repeat domain 5provided by HGNC
Primary source: HGNC:HGNC:12757
See related: Ensembl:ENSG00000196363 MIM:609012; AllianceGenome:HGNC:12757
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: BIG3; SWD3; BIG-3; CFAP89
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. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 24.2), skin (RPKM 8.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (134135199..134159968)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (146348934..146373713)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (137000321..137025090)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Mitotic gene regulation by the N-MYC-WDR5-PDPK1 nexus.
Title: Mitotic gene regulation by the N-MYC-WDR5-PDPK1 nexus.
WD repeat domain 5 promotes the development of late-onset preeclampsia by activating nuclear factor kappa B.
Title: WD repeat domain 5 promotes the development of late-onset preeclampsia by activating nuclear factor kappa B.
Unannotated microprotein EMBOW regulates the interactome and chromatin and mitotic functions of WDR5.
Title: Unannotated microprotein EMBOW regulates the interactome and chromatin and mitotic functions of WDR5.
MLL1 inhibits the neurogenic potential of SCAPs by interacting with WDR5 and repressing HES1.
Title: MLL1 inhibits the neurogenic potential of SCAPs by interacting with WDR5 and repressing HES1.
Intermittent hypoxia BMSCs-derived exosomal miR-31-5p promotes lung adenocarcinoma development via WDR5-induced epithelial mesenchymal transition.
Title: Intermittent hypoxia BMSCs-derived exosomal miR-31-5p promotes lung adenocarcinoma development via WDR5-induced epithelial mesenchymal transition.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Title: A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy.
Title: WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy.
miR-101-3p contributes to the progression of preeclampsia by suppressing WDR5-mediated proliferation and invasion of trophoblast.
Title: miR-101-3p contributes to the progression of preeclampsia by suppressing WDR5-mediated proliferation and invasion of trophoblast.
Circ_0072995 drives cervical cancer development by regulating the miR-29a/WDR5 axis.
Title: Circ_0072995 drives cervical cancer development by regulating the miR-29a/WDR5 axis.
The SCF-FBXW7 E3 ubiquitin ligase triggers degradation of histone 3 lysine 4 methyltransferase complex component WDR5 to prevent mitotic slippage.
Title: The SCF-FBXW7 E3 ubiquitin ligase triggers degradation of histone 3 lysine 4 methyltransferase complex component WDR5 to prevent mitotic slippage.

Submit: New GeneRIF Correction See all GeneRIFs (91)

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

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
Tat	tat	Three components (Setd1A, CXXC1, WDR5) of the Set1 histone methyltransferase complex are identified to interact with HIV-1 Tat in Jurkat cell	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

RH98879 (e-PCR)
- UniSTS:90132

D9S1345 (e-PCR)
- UniSTS:153149

D9S1349 (e-PCR)
- UniSTS:153153

WDR5_9217 (e-PCR)
- UniSTS:468171

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone H3K4 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of embryonic development	ISO Inferred from Sequence Orthology more info
involved_in regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of tubulin deacetylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of tubulin deacetylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation-coupled chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of ATAC complex	IDA Inferred from Direct Assay more info	PubMed
part_of ATAC complex	ISO Inferred from Sequence Orthology more info
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL1 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of MLL1/2 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of MLL3/4 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL3/4 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of NSL complex	IDA Inferred from Direct Assay more info	PubMed
part_of Set1C/COMPASS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Set1C/COMPASS complex	IDA Inferred from Direct Assay more info	PubMed
part_of Set1C/COMPASS complex	IPI Inferred from Physical Interaction more info	PubMed
part_of histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
located_in mitotic spindle	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 5

Names: BMP-2-induced gene 3 kb; BMP2-induced 3-kb gene protein; SWD3, Set1c WD40 repeat protein, homolog; cilia and flagella associated protein 89

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_047125.1 RefSeqGene

Range

5404..29290

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001384409.1 → NP_001371338.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384410.1 → NP_001371339.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384411.1 → NP_001371340.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384412.1 → NP_001371341.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384413.1 → NP_001371342.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384414.1 → NP_001371343.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384415.1 → NP_001371344.1 WD repeat-containing protein 5 isoform 1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384416.1 → NP_001371345.1 WD repeat-containing protein 5 isoform 2

Status: REVIEWED

Source sequence(s)

BX649632

Conserved Domains (2) summary

cd00200
Location:37 → 330

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384417.1 → NP_001371346.1 WD repeat-containing protein 5 isoform 3

Status: REVIEWED

Source sequence(s)

BX649632

Conserved Domains (2) summary

cd00200
Location:37 → 328

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_001384418.1 → NP_001371347.1 WD repeat-containing protein 5 isoform 4

Status: REVIEWED

Source sequence(s)

BX649632

Conserved Domains (2) summary

cd00200
Location:37 → 288

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 ...

sd00039
Location:49 → 84

7WD40; WD40 repeat [structural motif]
NM_001384419.1 → NP_001371348.1 WD repeat-containing protein 5 isoform 4

Status: REVIEWED

Source sequence(s)

BX649632

Conserved Domains (2) summary

cd00200
Location:37 → 288

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 ...

sd00039
Location:49 → 84

7WD40; WD40 repeat [structural motif]
NM_017588.3 → NP_060058.1 WD repeat-containing protein 5 isoform 1

See identical proteins and their annotated locations for NP_060058.1

Status: REVIEWED

Source sequence(s)

AA490313, AK000552, BC029769, BG773451, BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Related

ENSP00000351446.3, ENST00000358625.4

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]
NM_052821.4 → NP_438172.1 WD repeat-containing protein 5 isoform 1

See identical proteins and their annotated locations for NP_438172.1

Status: REVIEWED

Source sequence(s)

BX649632

Consensus CDS

CCDS6981.1

UniProtKB/Swiss-Prot

P61964, Q91VA5, Q9NWX7, Q9UGP9

Conserved Domains (2) summary

cd00200
Location:37 → 331

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 ...

sd00039
Location:48 → 85

7WD40; WD40 repeat [structural motif]