RABEP1 (rabaptin, RAB GTPase binding effector protein 1)

2004-03-01  

Identity

HGNC
RABEP1
LOCATION
17p13.2
LOCUSID
9135
ALIAS
RAB5EP,RABPT5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9135
MIM: 603616
HGNC: 17677
Ensembl: ENSG00000029725

Variants:

dbSNP: 9135
ClinVar: 9135
TCGA: ENSG00000029725
COSMIC: RABEP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000029725ENST00000341923Q15276
ENSG00000029725ENST00000537505Q15276
ENSG00000029725ENST00000570487A0A087WZZ3
ENSG00000029725ENST00000572250K7ENJ9
ENSG00000029725ENST00000574568I3L456
ENSG00000029725ENST00000575991I3L2B8

Expression (GTEx)

0
10
20
30
40
50
60
70
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10026aripiprazoleChemicalClinicalAnnotationassociated28694205
PA162565877amisulprideChemicalClinicalAnnotationassociated28694205
PA163518919paliperidoneChemicalClinicalAnnotationassociated28694205
PA166123368schizoaffective disorderDiseaseClinicalAnnotationassociated28694205
PA447199Bipolar DisorderDiseaseClinicalAnnotationassociated28694205
PA447207Depressive DisorderDiseaseClinicalAnnotationassociated28694205
PA447215Psychotic DisordersDiseaseClinicalAnnotationassociated28694205
PA449061clozapineChemicalClinicalAnnotationassociated28694205
PA450243lithiumChemicalClinicalAnnotationassociated28694205
PA450522mirtazapineChemicalClinicalAnnotationassociated28694205
PA450688olanzapineChemicalClinicalAnnotationassociated28694205
PA451201quetiapineChemicalClinicalAnnotationassociated28694205
PA451257risperidoneChemicalClinicalAnnotationassociated28694205
PA451846valproic acidChemicalClinicalAnnotationassociated28694205

References

Pubmed IDYearTitleCitations
286942052017Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.2
286942052017Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.2
264302122015Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation.20
266333572015ITSN2L Interacts with and Negatively Regulates RABEP1.3
266806962015The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5.6
264302122015Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation.20
266333572015ITSN2L Interacts with and Negatively Regulates RABEP1.3
266806962015The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5.6
249573372014Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5.27
249573372014Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5.27
228417122012Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking.9
229753252012PKD controls αvβ3 integrin recycling and tumor cell invasive migration through its substrate Rabaptin-5.28
228417122012Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking.9
229753252012PKD controls αvβ3 integrin recycling and tumor cell invasive migration through its substrate Rabaptin-5.28
212716792011Global identification of miR-373-regulated genes in breast cancer by quantitative proteomics.36

Citation

Dessen P

RABEP1 (rabaptin, RAB GTPase binding effector protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2004-03-01

Online version: http://atlasgeneticsoncology.org/gene/42014/gene-fusions-explorer/js/lib/gene-fusions/?id=42014