RABEPK (Rab9 effector protein with kelch motifs)

2014-11-01  

Identity

HGNC
RABEPK
LOCATION
9q33.3
LOCUSID
10244
ALIAS
RAB9P40,bA65N13.1,p40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10244
MIM: 605962
HGNC: 16896
Ensembl: ENSG00000136933

Variants:

dbSNP: 10244
ClinVar: 10244
TCGA: ENSG00000136933
COSMIC: RABEPK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136933ENST00000259460Q7Z6M1
ENSG00000136933ENST00000259460A0A0S2Z4Z5
ENSG00000136933ENST00000373538Q7Z6M1
ENSG00000136933ENST00000373538A0A024R8A0
ENSG00000136933ENST00000373544Q5T1S4
ENSG00000136933ENST00000394125Q7Z6M1
ENSG00000136933ENST00000394125A0A024R8A0
ENSG00000136933ENST00000416065Q5T1S5
ENSG00000136933ENST00000628863Q5T1S4

Expression (GTEx)

0
5
10
15
20
25
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
Retrograde transport at the Trans-Golgi-NetworkREACTOMER-HSA-6811440

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
145302842003Active PIKfyve associates with and promotes the membrane attachment of the late endosome-to-trans-Golgi network transport factor Rab9 effector p40.28

Citation

Dessen P

RABEPK (Rab9 effector protein with kelch motifs)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72460/rabepk