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WDR1 - WD repeat domain 1 Gene

Also Known as AIP1; PFITS; NORI-1; HEL-S-52

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9948

About WDR1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:10,074,339-10,116,799 (from NCBI)

This gene has 31 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in appendix (RPKM 87.7), endometrium (RPKM 81.4) and 25 other tissues.

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]

WDR1 Products (2)

mRNA	Protein	Name
NM_005112.5	NP_005103.2	WD repeat-containing protein 1 isoform 2
NM_017491.5	NP_059830.1	WD repeat-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30021884	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in apical junction assembly	IDA IDA: Inferred from direct assay	25792565	GOA
involved in maintenance of epithelial cell apical/basal polarity	IDA IDA: Inferred from direct assay	25792565	GOA
involved in regulation of actin filament depolymerization	IDA IDA: Inferred from direct assay	15629458	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell-cell junction	IDA IDA: Inferred from direct assay	25792565	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDR1 Protein Structure

WD40

0
100
200
300
400
500
606 a.a.

Protein Preferred Names	Protein Names
WD repeat-containing protein 1	actin-interacting protein 1

WDR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	WDR1	O75083	ACTB	Homo sapiens	P60709	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

WDR1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82672	WDR1 Antibody (YA2417)	WB, IHC-F, IHC-P, ICC/IF	Human
HY-P82672A	WDR1 Antibody (YA2417)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human

Related Diseases

Diseases	Alias
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lazy Leukocyte Syndrome PFITS
Intellectual Developmental Disorder, Autosomal Dominant 61	MRD61 Mental Retardation, Autosomal Dominant 61
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Familial Cold Autoinflammatory Syndrome 4	FCAS4 Nlrc4-Related Familial Cold Autoinflammatory Syndrome Nlrc4-Related Familial Cold Urticaria Autoinflammatory, Cold, Familial, Syndrome, Type 4
Familial Behcet-Like Autoinflammatory Syndrome	Autoinflammatory Syndrome, Familial, Behcet-Like A20 Haploinsufficiency
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease IMD71 Plteid Immunodeficiency 71
Immunodeficiency 31a	Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency IMD31A Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant Stat1 Deficiency, Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency Msmd Due To Partial Stat1 Deficiency Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Papa Syndrome Fra Familial Recurrent Arthritis Pyogenic Arthritis, Pyoderma Gangrenosum And Acne PAPAS Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne
Familial Cold Autoinflammatory Syndrome 2	FCAS2 Nlrp12-Associated Hereditary Periodic Fever Syndrome Familial Cold Autoinflammatory Syndrome Type 2 Familial Cold-Induced Autoinflammatory Syndrome Type 2 Naps12 Familial Cold Autoinflammatory Syndrome 2, Susceptibility To Autoinflammatory Syndrome, Cold, Familial, Type 2
Immunodeficiency 31c	IMD31C Candidiasis, Familial, 7 Candf7 Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis Autosomal Dominant Immunodeficiency 31c Familial Candidiasis 7 Chronic Mucocutaneous Candidiasis 7 Immunodeficiency 31c, Autosomal Dominant Immunodeficiency, Type 31c, Autosomal Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15760	WDR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19974	Wdr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26477	Wdr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	WDR1	RGD	RGD:1305789
Canis familiaris	WDR1	VGNC	VGNC:48349
Mus musculus	WDR1	MGD	MGI:1337100
Felis catus	WDR1	VGNC	VGNC:67013
Macaca mulatta	WDR1	VGNC	VGNC:78788
Bos taurus	WDR1	VGNC	VGNC:36880
Others	WDR1	NCBI