WDR1 - WD repeat domain 1 Gene

Homo sapiens

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

Gene ID: 9948 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15760	WDR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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