WDR1 (WD repeat domain 1)

2013-12-01  

Identity

HGNC
WDR1
LOCATION
4p16.1
LOCUSID
9948
ALIAS
AIP1,HEL-S-52,NORI-1,PFITS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9948
MIM: 604734
HGNC: 12754
Ensembl: ENSG00000071127

Variants:

dbSNP: 9948
ClinVar: 9948
TCGA: ENSG00000071127
COSMIC: WDR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071127ENST00000382451O75083
ENSG00000071127ENST00000382452O75083
ENSG00000071127ENST00000382452V9HWG7
ENSG00000071127ENST00000499869O75083
ENSG00000071127ENST00000499869V9HWG7
ENSG00000071127ENST00000502702O75083
ENSG00000071127ENST00000508079D6RD66

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198186322009CRL4s: the CUL4-RING E3 ubiquitin ligases.161
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
232933232013Tumour endothelial cells acquire drug resistance in a tumour microenvironment.26
156294582005AIP1/WDR1 supports mitotic cell rounding.23
279940712017Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.20
184946082008Critical roles of actin-interacting protein 1 in cytokinesis and chemotactic migration of mammalian cells.19
245165862014Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.13
257925652015Actin-interacting protein 1 controls assembly and permeability of intestinal epithelial apical junctions.13
275579452016Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.13
276096432016Platelet WDR1 suppresses platelet activity and is associated with cardiovascular disease.13

Citation

Dessen P

WDR1 (WD repeat domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53643/wdr1