AGFG1 (ArfGAP with FG repeats 1)

2014-11-01  

Identity

HGNC
AGFG1
LOCATION
2q36.3
LOCUSID
3267
ALIAS
HRB,RAB,RIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3267
MIM: 600862
HGNC: 5175
Ensembl: ENSG00000173744

Variants:

dbSNP: 3267
ClinVar: 3267
TCGA: ENSG00000173744
COSMIC: AGFG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173744ENST00000310078P52594
ENSG00000173744ENST00000310078A0A0S2Z444
ENSG00000173744ENST00000373671P52594
ENSG00000173744ENST00000409171P52594
ENSG00000173744ENST00000409315B8ZZY2
ENSG00000173744ENST00000409979P52594
ENSG00000173744ENST00000456594C9J2I0
ENSG00000173744ENST00000458212H7C0S7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Influenza AKEGGko05164
Influenza AKEGGhsa05164
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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
187753142008Molecular basis for the sorting of the SNARE VAMP7 into endocytic clathrin-coated vesicles by the ArfGAP Hrb.67
306217002019The circRNA circAGFG1 acts as a sponge of miR-195-5p to promote triple-negative breast cancer progression through regulating CCNE1 expression.50
147018782004hRIP, a cellular cofactor for Rev function, promotes release of HIV RNAs from the perinuclear region.34
188199122008Role of HRB in clathrin-dependent endocytosis.31
275184352017Coordinated ubiquitination and phosphorylation of RIP1 regulates necroptotic cell death.18
217529122011Human immunodeficiency virus rev-binding protein is essential for influenza a virus replication and promotes genome trafficking in late-stage infection.10
214393202011Rabs, SNAREs and α-synuclein--membrane trafficking defects in synucleinopathies.8
245770832014The LEF1/CYLD axis and cIAPs regulate RIP1 deubiquitination and trigger apoptosis in selenite-treated colorectal cancer cells.7
192624252009Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients.6
239848882013ITGB5 and AGFG1 variants are associated with severity of airway responsiveness.6

Citation

Dessen P

AGFG1 (ArfGAP with FG repeats 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/54942/agfg1-(arfgap-with-fg-repeats-1)