WDR1 WD repeat domain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR1provided by HGNC
Official Full Name: WD repeat domain 1provided by HGNC
Primary source: HGNC:HGNC:12754
See related: Ensembl:ENSG00000071127 MIM:604734; AllianceGenome:HGNC:12754
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: AIP1; PFITS; NORI-1; HEL-S-52
Summary: This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in appendix (RPKM 87.7), endometrium (RPKM 81.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (10074339..10116799, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (10073924..10116377, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (10075963..10118423, complement)

Chromosome 4 - NC_000004.12 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?

YAP signaling is involved in WDR1-regulated proliferation and migration of non-small-cell lung cancer cells.
Title: YAP signaling is involved in WDR1-regulated proliferation and migration of non-small-cell lung cancer cells.
WD repeat-containing protein 1 maintains beta-Catenin activity to promote pancreatic cancer aggressiveness.
Title: WD repeat-containing protein 1 maintains β-Catenin activity to promote pancreatic cancer aggressiveness.
Catastrophic actin filament bursting by cofilin, Aip1, and coronin.
Title: Catastrophic actin filament bursting by cofilin, Aip1, and coronin.
Based on this finding and on the finding that actin remodeling is required for hepatic secretion, the authors further confirmed that WDR1 is a phosphoprotein that regulates secretion.
Title: A Serine/Threonine Kinase 16-Based Phospho-Proteomics Screen Identifies WD Repeat Protein-1 As A Regulator Of Constitutive Secretion.
Deficiency of the actin regulator WDR1 in human subjects is associated with a paucity of B-cell progenitors in the bone marrow and lack of switched memory B cells in the periphery. WDR1 missense mutations lead to aberrant assembly of both T- and B-cell immunologic synapses.
Title: Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.
WDR1 is an EYA3-specific substrate, which implies that EYA3 is a key modulator of the cytoskeletal reorganization
Title: WDR1 is a novel EYA3 substrate and its dephosphorylation induces modifications of the cellular actin cytoskeleton.
Functions of WDR1 in actin filament dynamics and cytoskeletal regulation in health and disease have been described. (Review)
Title: Functions of actin-interacting protein 1 (AIP1)/WD repeat protein 1 (WDR1) in actin filament dynamics and cytoskeletal regulation.
STAT3 bound to the 5' upstream sequence (-1971 to -1964), a putative promoter region, of WDR1 gene, and its activation induced WDR1 overexpression in breast cancer cells.
Title: STAT3-induced WDR1 overexpression promotes breast cancer cell migration.
MRTF-A-miR-206-WDR1 form feedback loop to regulate breast cancer cell migration.
Title: MRTF-A-miR-206-WDR1 form feedback loop to regulate breast cancer cell migration.
homozygous missense L153F/L293F mutation in the actin regulatory gene WDR1 causes a new autoinflammatory disease in humans, with periodic fevers, immunodeficiency, and intermittent thrombocytopenia (PFIT).
Title: Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

Associated conditions

Description	Tests
Lazy leukocyte syndrome MedGen: C0272174 OMIM: 150550 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of age at onset in schizophrenia in a European-American sample EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M78652 (e-PCR)
- UniSTS:20226

G41952 (e-PCR)
- UniSTS:63049

D4S438E (e-PCR)
- UniSTS:148303

SHGC-67675 (e-PCR)
- UniSTS:28514

G65140 (e-PCR)
- UniSTS:230762

SHGC-33408 (e-PCR)
- UniSTS:892

SHGC-67857 (e-PCR)
- UniSTS:57540

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in actin filament depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament fragmentation	IEA Inferred from Electronic Annotation more info
involved_in apical junction assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cortical cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in establishment of planar polarity of follicular epithelium	IEA Inferred from Electronic Annotation more info
involved_in locomotion	IBA Inferred from Biological aspect of Ancestor more info
involved_in maintenance of epithelial cell apical/basal polarity	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil mediated immunity	IEA Inferred from Electronic Annotation more info
involved_in neutrophil migration	IEA Inferred from Electronic Annotation more info
involved_in platelet formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament depolymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IEA Inferred from Electronic Annotation more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in podosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: WD repeat-containing protein 1

Names: actin-interacting protein 1; epididymis secretory protein Li 52

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_027876.1 RefSeqGene

Range

5151..47611

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005112.5 → NP_005103.2 WD repeat-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_005103.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BC000201, BC002489, BG724171

Consensus CDS

CCDS54739.1

UniProtKB/TrEMBL

B4DY05, E9PFR1

Related

ENSP00000426725.1, ENST00000502702.6

Conserved Domains (3) summary

COG2319
Location:45 → 462

WD40; WD40 repeat [General function prediction only]

cd00200
Location:42 → 419

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:53 → 89

7WD40; WD40 repeat [structural motif]
NM_017491.5 → NP_059830.1 WD repeat-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_059830.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB010427, AB209746, AC093664, AL110208

Consensus CDS

CCDS54740.1

UniProtKB/Swiss-Prot

A8K6E9, A8MPU4, O75083, O75313, Q8N6E5, Q9UG05, Q9UG78, Q9UQE0

UniProtKB/TrEMBL

Q53GN4, V9HWG7

Related

ENSP00000427687.1, ENST00000499869.7

Conserved Domains (3) summary

cd00200
Location:50 → 389

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:62 → 100

7WD40; WD40 repeat [structural motif]

cl25539
Location:312 → 602

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 ...