Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9948
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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WD repeat domain 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
WDR1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AIP1, HEL-S-52, NORI-1, PFITS |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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PFITS |
Chromosome
Chromosome number
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4 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4p16.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
O75083
|
Protein name |
WD repeat-containing protein 1 (Actin-interacting protein 1) (AIP1) (NORI-1) |
Protein function |
Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins (PubMed:15629458, PubMed:27557945, PubMed:29751004). Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotacti |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00400
|
WD40 |
179 → 217 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
223 → 262 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
310 → 350 |
WD domain, G-beta repeat |
Repeat |
PF00400
|
WD40 |
523 → 560 |
WD domain, G-beta repeat |
Repeat |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in peripheral blood mononuclear cells (at protein level). {ECO:0000269|PubMed:29751004}. |
Sequence |
|
Sequence length |
606 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
29892015 |
Osteoporosis |
Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
18924182 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
29892015 |
ClinVar |
Neuroticism |
Neuroticism |
|
|
GWAS |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
Dementia |
Dementia |
|
|
GWAS |
Gout |
Gout |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Carcinoma Non Small Cell Lung |
Associate
|
35861209 |
Cardiovascular Diseases |
Associate
|
27609643 |
Cleft Palate |
Associate
|
24516586 |
Frontotemporal Dementia |
Associate
|
32792518 |
Glioma |
Associate
|
28339748 |
Hemolytic Uremic Syndrome |
Associate
|
22836280 |
Hereditary Autoinflammatory Diseases |
Associate
|
27994071 |
Immunologic Deficiency Syndromes |
Inhibit
|
27557945 |
Immunologic Deficiency Syndromes |
Associate
|
27994071 |
Leukoplakia |
Stimulate
|
36776920 |
Lymphopenia |
Associate
|
29751004 |
Neoplasms |
Associate
|
36300671 |
Neoplasms |
Stimulate
|
36776920 |
Neutrophil Actin Dysfunction |
Associate
|
27557945 |
Orofacial Cleft 1 |
Associate
|
24516586 |
Periodic fever familial autosomal dominant |
Associate
|
27994071 |
Primary Immunodeficiency Diseases |
Associate
|
27557945 |
Respiratory Tract Infections |
Associate
|
29751004 |
Skin Ulcer |
Associate
|
29751004 |
Stomatitis |
Associate
|
29751004 |
Thrombocytopenia |
Associate
|
27994071 |
|