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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 9q34.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (134135199..134159968)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (146348934..146373713)
RS_2024_09	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating beta-catenin/ZEB1 axis.
Title: Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating β-catenin/ZEB1 axis.
The NTE domain of PTENalpha/beta promotes cancer progression by interacting with WDR5 via its SSSRRSS motif.
Title: The NTE domain of PTENα/β promotes cancer progression by interacting with WDR5 via its SSSRRSS motif.
METTL3 orchestrates glycolysis by stabilizing the c-Myc/WDR5 complex in triple-negative breast cancer.
Title: METTL3 orchestrates glycolysis by stabilizing the c-Myc/WDR5 complex in triple-negative breast cancer.
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.

Submit: New GeneRIF Correction See all GeneRIFs (94)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_047125.1 RefSeqGene

Range

5404..29290

Download

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]