RABGEF1 (RAB guanine nucleotide exchange factor 1)

2006-10-01  

Identity

HGNC
RABGEF1
LOCATION
7q11.21
LOCUSID
27342
ALIAS
RABEX5,RAP1,rabex-5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154710ENST00000284957Q9UJ41
ENSG00000154710ENST00000284957A0A024RDL6
ENSG00000154710ENST00000380828Q9UJ41
ENSG00000154710ENST00000437078A0A0A0MSJ3
ENSG00000154710ENST00000439720E9PFK9
ENSG00000154710ENST00000442563C9JDA2
ENSG00000154710ENST00000450873Q9UJ41
ENSG00000154710ENST00000450873A0A024RDL6
ENSG00000154710ENST00000484547A0A1W2PPY0
ENSG00000154710ENST00000510829Q3HKR1
ENSG00000154710ENST00000607882V9GYI8

Expression (GTEx)

0
5
10
15
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198
TBC/RABGAPsREACTOMER-HSA-8854214

References

Pubmed IDYearTitleCitations
331664952021RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.0
331664952021RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.0
293600402018Endosomal Rab cycles regulate Parkin-mediated mitophagy.70
293600402018Endosomal Rab cycles regulate Parkin-mediated mitophagy.70
277914682017The STX6-VTI1B-VAMP3 complex facilitates xenophagy by regulating the fusion between recycling endosomes and autophagosomes.22
286175532017Higher RABEX-5 mRNA predicts unfavourable survival in patients with colorectal cancer.4
277914682017The STX6-VTI1B-VAMP3 complex facilitates xenophagy by regulating the fusion between recycling endosomes and autophagosomes.22
286175532017Higher RABEX-5 mRNA predicts unfavourable survival in patients with colorectal cancer.4
276016482016Rabex-5 is a lenalidomide target molecule that negatively regulates TLR-induced type 1 IFN production.8
278207022016Guanine nucleotide exchange factor RABGEF1 regulates keratinocyte-intrinsic signaling to maintain skin homeostasis.7
276016482016Rabex-5 is a lenalidomide target molecule that negatively regulates TLR-induced type 1 IFN production.8
278207022016Guanine nucleotide exchange factor RABGEF1 regulates keratinocyte-intrinsic signaling to maintain skin homeostasis.7
260025762015Elevated RABEX-5 protein expression predicts poor prognosis in combined small cell lung cancer.3
264302122015Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation.20
260025762015Elevated RABEX-5 protein expression predicts poor prognosis in combined small cell lung cancer.3

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/favicon/favicon-32x32.png