AGAP1 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 1)

2014-11-01  

Identity

HGNC
AGAP1
LOCATION
2q37.2
LOCUSID
116987
ALIAS
AGAP-1,CENTG2,GGAP1,cnt-g2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 116987
MIM: 608651
HGNC: 16922
Ensembl: ENSG00000157985

Variants:

dbSNP: 116987
ClinVar: 116987
TCGA: ENSG00000157985
COSMIC: AGAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157985ENST00000304032Q9UPQ3
ENSG00000157985ENST00000336665Q9UPQ3
ENSG00000157985ENST00000402604C9J8Z2
ENSG00000157985ENST00000409457Q9UPQ3
ENSG00000157985ENST00000409538E7EUN2
ENSG00000157985ENST00000418654H7C0A7
ENSG00000157985ENST00000428334F5GXM9
ENSG00000157985ENST00000448025H7C211
ENSG00000157985ENST00000614409A0A087X1U1
ENSG00000157985ENST00000619456A0A087X044
ENSG00000157985ENST00000635100A0A0U1RRF1

Expression (GTEx)

0
5
10
15
20
25
30
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
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
123885572002AGAP1, an endosome-associated, phosphoinositide-dependent ADP-ribosylation factor GTPase-activating protein that affects actin cytoskeleton.42
160792952005The Arf GAPs AGAP1 and AGAP2 distinguish between the adaptor protein complexes AP-1 and AP-3.32
158921432005Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.18
158921432005Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.18
180037472008Substrate specificities and activities of AZAP family Arf GAPs in vivo.10
153817062004AGAP1, a novel binding partner of nitric oxide-sensitive guanylyl cyclase.9
224539192012GTP-binding protein-like domain of AGAP1 is protein binding site that allosterically regulates ArfGAP protein catalytic activity.8
284300472019Arf GAPs and molecular motors.2
275317492016Direct Functional Interaction of the Kinesin-13 Family Member Kinesin-like Protein 2A (Kif2A) and Arf GAP with GTP-binding Protein-like, Ankyrin Repeats and PH Domains1 (AGAP1).1

Citation

Dessen P

AGAP1 (ArfGAP with GTPase domain, ankyrin repeat and PH domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60185/agap1-(arfgap-with-gtpase-domain-ankyrin-repeat-and-ph-domain-1)