ARAP1 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1)

2008-10-01  

Identity

HGNC
ARAP1
LOCATION
11q13.4
LOCUSID
116985
ALIAS
CENTD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 116985
MIM: 606646
HGNC: 16925
Ensembl: ENSG00000186635

Variants:

dbSNP: 116985
ClinVar: 116985
TCGA: ENSG00000186635
COSMIC: ARAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186635ENST00000334211Q96P48
ENSG00000186635ENST00000359373Q96P48
ENSG00000186635ENST00000393605Q96P48
ENSG00000186635ENST00000393609Q96P48
ENSG00000186635ENST00000426523E7EU13
ENSG00000186635ENST00000427971F8WBT0
ENSG00000186635ENST00000429686Q96P48
ENSG00000186635ENST00000452383F5GWN4
ENSG00000186635ENST00000455638A0A0A0MSJ2
ENSG00000186635ENST00000536885H0YGD1
ENSG00000186635ENST00000542596F5GWQ2

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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1REACTOMER-HSA-8849469

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
208898532011Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.65
189399582008ARAP1 regulates endocytosis of EGFR.26
244391112014A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell.26
187649282008ARAP1 regulates EGF receptor trafficking and signalling.23
196664642009A PH domain in the Arf GTPase-activating protein (GAP) ARAP1 binds phosphatidylinositol 3,4,5-trisphosphate and regulates Arf GAP activity independently of recruitment to the plasma membranes.19
212675352011Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release.15
281326862017Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice.13
205545242010PTK6 inhibits down-regulation of EGF receptor through phosphorylation of ARAP1.12
225738882012ARAP1 regulates the ring size of circular dorsal ruffles through Arf1 and Arf5.12
180037472008Substrate specificities and activities of AZAP family Arf GAPs in vivo.10

Citation

Dessen P

ARAP1 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50392/arap1