RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)

2016-10-01  

Identity

HGNC
RAB3GAP1
LOCATION
2q21.3
LOCUSID
22930
ALIAS
P130,RAB3GAP,RAB3GAP130,WARBM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22930
MIM: 602536
HGNC: 17063
Ensembl: ENSG00000115839

Variants:

dbSNP: 22930
ClinVar: 22930
TCGA: ENSG00000115839
COSMIC: RAB3GAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115839ENST00000264158Q15042
ENSG00000115839ENST00000264158B9A6J2
ENSG00000115839ENST00000425393C9J1R5
ENSG00000115839ENST00000442034Q15042
ENSG00000115839ENST00000539493Q15042

Expression (GTEx)

0
10
20
30
40
50
60
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
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

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
248916042014Rab18 and a Rab18 GEF complex are required for normal ER structure.36
234205202013Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.31
254954762014RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.26
205121592010New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.19
238330712013Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.14
283428702017The RAB GTPase RAB18 modulates macroautophagy and proteostasis.14
235931532013Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.13
260638292015Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.9
182868242007Phenotypic variability in Micro syndrome: report of new cases.8
231764872012RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.8

Citation

Dessen P

RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56523/rab3gap1