ARFGAP1 (ADP ribosylation factor GTPase activating protein 1)

2014-11-01  

Identity

HGNC
ARFGAP1
LOCATION
20q13.33
LOCUSID
55738
ALIAS
ARF1GAP,HRIHFB2281
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55738
MIM: 608377
HGNC: 15852
Ensembl: ENSG00000101199

Variants:

dbSNP: 55738
ClinVar: 55738
TCGA: ENSG00000101199
COSMIC: ARFGAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101199ENST00000353546Q8N6T3
ENSG00000101199ENST00000370275Q8N6T3
ENSG00000101199ENST00000370283Q8N6T3
ENSG00000101199ENST00000518601E5RHT6
ENSG00000101199ENST00000519273Q8N6T3
ENSG00000101199ENST00000519604Q8N6T3
ENSG00000101199ENST00000520485E5RGL6
ENSG00000101199ENST00000522403E5RHC5
ENSG00000101199ENST00000523114E5RIU2
ENSG00000101199ENST00000523460E5RHH7
ENSG00000101199ENST00000547204F8VWH9
ENSG00000101199ENST00000549047F8W1U7
ENSG00000101199ENST00000549076H0YIQ0
ENSG00000101199ENST00000550188F8VWB3

Expression (GTEx)

0
50
100
150
200
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

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
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
152464312004GAP control: regulating the regulators of small GTPases.91
224231082012ArfGAP1 is a GTPase activating protein for LRRK2: reciprocal regulation of ArfGAP1 by LRRK2.50
190153192008Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking.31
165716802006SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network.21
192995152009Three homologous ArfGAPs participate in coat protein I-mediated transport.19
246234382014Hepatitis C virus NS5A hijacks ARFGAP1 to maintain a phosphatidylinositol 4-phosphate-enriched microenvironment.19
214992582011ARFGAP1 promotes AP-2-dependent endocytosis.18
190556912009ArfGAP1 activity and COPI vesicle biogenesis.17
185415322008Kinetic analysis of Arf GAP1 indicates a regulatory role for coatomer.12
163169942006Golgi localization determinants in ArfGAP1 and in new tissue-specific ArfGAP1 isoforms.9

Citation

Dessen P

ARFGAP1 (ADP ribosylation factor GTPase activating protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60455/arfgap1