STAP1 (signal transducing adaptor family member 1)

2003-02-01  

Identity

HGNC
STAP1
LOCATION
4q13.2
LOCUSID
26228
ALIAS
BRDG1,STAP-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 26228
MIM: 604298
HGNC: 24133
Ensembl: ENSG00000035720

Variants:

dbSNP: 26228
ClinVar: 26228
TCGA: ENSG00000035720
COSMIC: STAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000035720ENST00000265404Q9ULZ2
ENSG00000035720ENST00000265404A0A024RD91
ENSG00000035720ENST00000396225Q9ULZ2
ENSG00000035720ENST00000396225A0A024RD91

Expression (GTEx)

0
10
20
30
40
50
60
70
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
250351512014Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.24
289583302017Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.18
303081872018A rare STAP1 mutation incompletely associated with familial hypercholesterolemia.3

Citation

Dessen P

STAP1 (signal transducing adaptor family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/838/stap1