ACAP1 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 1)

2012-06-01  

Identity

HGNC
ACAP1
LOCATION
17p13.1
LOCUSID
9744
ALIAS
CENTB1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9744
MIM: 607763
HGNC: 16467
Ensembl: ENSG00000072818

Variants:

dbSNP: 9744
ClinVar: 9744
TCGA: ENSG00000072818
COSMIC: ACAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072818ENST00000158762Q15027
ENSG00000072818ENST00000570457I3L0K9
ENSG00000072818ENST00000575425I3L268

Expression (GTEx)

0
50
100
150
200
250
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

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
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
110622632000ACAPs are arf6 GTPase-activating proteins that function in the cell periphery.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
176643352007An ACAP1-containing clathrin coat complex for endocytic recycling.48
155255382004ACAP1 promotes endocytic recycling by recognizing recycling sorting signals.43
110504342000Cytohesins and centaurins: mediators of PI 3-kinase-regulated Arf signaling.41
170055622006Centaurin beta1 down-regulates nucleotide-binding oligomerization domains 1- and 2-dependent NF-kappaB activation.27
252252932014The Arf6 GTPase-activating proteins ARAP2 and ACAP1 define distinct endosomal compartments that regulate integrin α5β1 traffic.21
170101222006Cooperation of phosphoinositides and BAR domain proteins in endosomal tubulation.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
180037472008Substrate specificities and activities of AZAP family Arf GAPs in vivo.10

Citation

Dessen P

ACAP1 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52747/acap1