RAB29 (RAB29, member RAS oncogene family)

2014-05-01  

Identity

HGNC
RAB29
LOCATION
1q32.1
LOCUSID
8934
ALIAS
RAB7L,RAB7L1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8934
MIM: 603949
HGNC: 9789
Ensembl: ENSG00000117280

Variants:

dbSNP: 8934
ClinVar: 8934
TCGA: ENSG00000117280
COSMIC: RAB29

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117280ENST00000235932O14966
ENSG00000117280ENST00000235932Q6FGU7
ENSG00000117280ENST00000367139O14966
ENSG00000117280ENST00000367139Q6FGU7
ENSG00000117280ENST00000414729O14966
ENSG00000117280ENST00000414729Q6FGU7
ENSG00000117280ENST00000437324O14966
ENSG00000117280ENST00000446390O14966
ENSG00000117280ENST00000528078E9PL56

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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
RAB geranylgeranylationREACTOMER-HSA-8873719

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
233953712013RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.216
245109042014Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.136
291775062018LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network.51
283348662017C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.36
206834862010Genetic variability at the PARK16 locus.29
247888162014A role of Rab29 in the integrity of the trans-Golgi network and retrograde trafficking of mannose-6-phosphate receptor.25
260212972015The small GTPase Rab29 is a common regulator of immune synapse assembly and ciliogenesis.22
292233922018Parkinson's disease-associated mutant LRRK2 phosphorylates Rab7L1 and modifies trans-Golgi morphology.22
222323502012Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk.15
238205872013Alzheimer's disease and Parkinson's disease genome-wide association study top hits and risk of Parkinson's disease in Korean population.10

Citation

Dessen P

RAB29 (RAB29, member RAS oncogene family)

Atlas Genet Cytogenet Oncol Haematol. 2014-05-01

Online version: http://atlasgeneticsoncology.org/gene/53890/rab29