Gene Gene information from NCBI Gene database.
Entrez ID 9948
Gene name WD repeat domain 1
Gene symbol WDR1
Synonyms (NCBI Gene)
AIP1HEL-S-52NORI-1PFITS
Chromosome 4
Chromosome location 4p16.1
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
miRNA miRNA information provided by mirtarbase database.
361
miRTarBase ID miRNA Experiments Reference
MIRT019985 hsa-miR-375 Microarray 20215506
MIRT028095 hsa-miR-93-5p Sequencing 20371350
MIRT049572 hsa-miR-92a-3p CLASH 23622248
MIRT039865 hsa-miR-615-3p CLASH 23622248
MIRT036948 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0002446 Process Neutrophil mediated immunity IEA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 30021884, 35271311
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604734 12754 ENSG00000071127
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
MPYEIKKVFASLPQVERGVSKIIGGDPKGNNFLYTNGKCVILRNIDNPALADIYTEHAHQ
VVVAKYAPSGFYIASGDVSGKLRIWDTTQKEHLLKYEYQPFAGKIKDIAWTEDSKRIAVV
GEGREKFGAVFLWDSGSSVGEITGHNKVINSVDIKQSRPYRLATGSDDNCAAFFEGPPFK
FKFTIGDHSRFVNCVRFSPDGNRFATASADGQIYIYD
GKTGEKVCALGGSKAHDGGIYAI
SWSPDSTHLLSASGDKTSKIWD
VSVNSVVSTFPMGSTVLDQQLGCLWQKDHLLSVSLSGY
INYLDRNNPSKPLHVIKGHSKSIQCLTVHKNGGKSYIYSGSHDGHINYWDSETGENDSFA
GKGHTNQVSRMTVDESGQLISCSMDDTVRYTSLMLRDYSGQGVVKLDVQPKCVAVGPGGY
AVVVCIGQIVLLKDQRKCFSIDNPGYEPEVVAVHPGGDTVAIGGVDGNVRLYSILGTTLK
DEGKLLEAKGPVTDVAYSHDGAFLAVCDASKVVTVFSVADGYSENNVFYGHHAKIVCLAW
SPDNEHFASGGMDMMVYVWT
LSDPETRVKIQDAHRLHHVSSLAWLDEHTLVTTSHDASVK
EWTITY
Sequence length 606
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder 61 Pathogenic rs1712445918 RCV000999499
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lazy leukocyte syndrome Pathogenic rs1713714520, rs769254295, rs1712525349, rs771058795, rs1712442528, rs1764766492, rs1711679334 RCV001250779
RCV001250780
RCV001250781
RCV001250782
RCV001250783
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyloidosis Amyloidosis BEFREE 27714968
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 23215816
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 21700930, 25732743, 29731721, 30471213, 31619063
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 20884846, 21768215, 23263486
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25732743, 29731721
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Behcet Syndrome Behcet Syndrome BEFREE 31414226
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26139244, 27521604, 28476377, 28822708
★☆☆☆☆
Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked Bulbospinal Atrophy, X-Linked BEFREE 27609643
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22046421, 29989053
★☆☆☆☆
Found in Text Mining only