WASF1 (WASP family member 1)

2009-08-01  

Identity

HGNC
WASF1
LOCATION
6q21
LOCUSID
8936
ALIAS
NEDALVS,SCAR1,WAVE,WAVE1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8936
MIM: 605035
HGNC: 12732
Ensembl: ENSG00000112290

Variants:

dbSNP: 8936
ClinVar: 8936
TCGA: ENSG00000112290
COSMIC: WASF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112290ENST00000265601Q5SZK4
ENSG00000112290ENST00000359451Q92558
ENSG00000112290ENST00000368938Q5SZK4
ENSG00000112290ENST00000392586Q92558
ENSG00000112290ENST00000392587Q92558
ENSG00000112290ENST00000392588Q92558
ENSG00000112290ENST00000392589Q92558
ENSG00000112290ENST00000419252Q5SZK3
ENSG00000112290ENST00000444391Q5SZK5
ENSG00000112290ENST00000447287Q5SZK3

Expression (GTEx)

0
50
100
150
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
Adherens junctionKEGGko04520
Regulation of actin cytoskeletonKEGGko04810
Adherens junctionKEGGhsa04520
Regulation of actin cytoskeletonKEGGhsa04810
ShigellosisKEGGhsa05131
Fc gamma R-mediated phagocytosisKEGGko04666
Fc gamma R-mediated phagocytosisKEGGhsa04666
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213

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
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
335580652021LncRNA PVT1 promotes the malignant progression of acute myeloid leukaemia via sponging miR-29 family to increase WAVE1 expression.4
335580652021LncRNA PVT1 promotes the malignant progression of acute myeloid leukaemia via sponging miR-29 family to increase WAVE1 expression.4
326976172020WAVE1 and WAVE2 have distinct and overlapping roles in controlling actin assembly at the leading edge.11
328861012020Adherens junction regulates cryptic lamellipodia formation for epithelial cell migration.29
326976172020WAVE1 and WAVE2 have distinct and overlapping roles in controlling actin assembly at the leading edge.11
328861012020Adherens junction regulates cryptic lamellipodia formation for epithelial cell migration.29
306977962019Yes-associated protein promotes cell migration via activating Wiskott-Aldrich syndrome protein family member 1 in oral squamous cell carcinoma.8
316001882019Cell confinement reveals a branched-actin independent circuit for neutrophil polarity.32
306977962019Yes-associated protein promotes cell migration via activating Wiskott-Aldrich syndrome protein family member 1 in oral squamous cell carcinoma.8
316001882019Cell confinement reveals a branched-actin independent circuit for neutrophil polarity.32
299615682018De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.25
299615682018De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.25
284736022017WASP and SCAR are evolutionarily conserved in actin-filled pseudopod-based motility.46
284736022017WASP and SCAR are evolutionarily conserved in actin-filled pseudopod-based motility.46
269770092016The Association Between WAVE1 and -3 and the ARP2/3 Complex in PC 3 Cells.2

Citation

Dessen P

WASF1 (WASP family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51016/gene-fusions-explorer/favicon/favicon-32x32.png