RABGEF1 (RAB guanine nucleotide exchange factor 1)

2006-10-01 Affiliation

Identity

HGNC

RABGEF1

LOCATION

7q11.21

LOCUSID

27342

ALIAS

RABEX5,RAP1,rabex-5

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 27342
MIM: 609700
HGNC: 17676
Ensembl: ENSG00000154710

Variants:

dbSNP: 27342
ClinVar: 27342
TCGA: ENSG00000154710
COSMIC: RABGEF1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000154710	ENST00000284957	Q9UJ41
ENSG00000154710	ENST00000284957	A0A024RDL6
ENSG00000154710	ENST00000380828	Q9UJ41
ENSG00000154710	ENST00000437078	A0A0A0MSJ3
ENSG00000154710	ENST00000439720	E9PFK9
ENSG00000154710	ENST00000442563	C9JDA2
ENSG00000154710	ENST00000450873	Q9UJ41
ENSG00000154710	ENST00000450873	A0A024RDL6
ENSG00000154710	ENST00000484547	A0A1W2PPY0
ENSG00000154710	ENST00000510829	Q3HKR1
ENSG00000154710	ENST00000607882	V9GYI8

Expression (GTEx)

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

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
RAB GEFs exchange GTP for GDP on RABs	REACTOME	R-HSA-8876198
TBC/RABGAPs	REACTOME	R-HSA-8854214

References

Pubmed ID	Year	Title	Citations
16499958	2006	Crystal structure of the ubiquitin binding domains of rabex-5 reveals two modes of interaction with ubiquitin.	120
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17450153	2007	Structural basis for Rab GTPase activation by VPS9 domain exchange factors.	61
12505986	2003	Divalent interaction of the GGAs with the Rabaptin-5-Rabex-5 complex.	56
20655225	2010	Feedback regulation of Ras signaling by Rabex-5-mediated ubiquitination.	49
29360040	2018	Endosomal Rab cycles regulate Parkin-mediated mitophagy.	30
18160707	2008	Integration of transforming growth factor beta and RAS signaling silences a RAB5 guanine nucleotide exchange factor and enhances growth factor-directed cell migration.	25
17341663	2007	Roles of RabGEF1/Rabex-5 domains in regulating Fc epsilon RI surface expression and Fc epsilon RI-dependent responses in mast cells.	22
24714377	2014	Rap1 signaling in endothelial barrier control.	17
24957337	2014	Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5.	15

Citation

Dessen P

RABGEF1 (RAB guanine nucleotide exchange factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43442/rabgef1