Identity
HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
RAB5EP,RABPT5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9135
MIM: 603616
HGNC: 17677
Ensembl: ENSG00000029725
Variants:
dbSNP: 9135
ClinVar: 9135
TCGA: ENSG00000029725
COSMIC: RABEP1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| TBC/RABGAPs | REACTOME | R-HSA-8854214 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10026 | aripiprazole | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA162565877 | amisulpride | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA163518919 | paliperidone | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA166123368 | schizoaffective disorder | Disease | ClinicalAnnotation | associated | 28694205 | ||
| PA447199 | Bipolar Disorder | Disease | ClinicalAnnotation | associated | 28694205 | ||
| PA447207 | Depressive Disorder | Disease | ClinicalAnnotation | associated | 28694205 | ||
| PA447215 | Psychotic Disorders | Disease | ClinicalAnnotation | associated | 28694205 | ||
| PA449061 | clozapine | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA450243 | lithium | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA450522 | mirtazapine | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA450688 | olanzapine | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA451201 | quetiapine | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA451257 | risperidone | Chemical | ClinicalAnnotation | associated | 28694205 | ||
| PA451846 | valproic acid | Chemical | ClinicalAnnotation | associated | 28694205 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28694205 | 2017 | Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs. | 2 |
| 28694205 | 2017 | Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs. | 2 |
| 26430212 | 2015 | Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation. | 20 |
| 26633357 | 2015 | ITSN2L Interacts with and Negatively Regulates RABEP1. | 3 |
| 26680696 | 2015 | The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5. | 6 |
| 26430212 | 2015 | Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation. | 20 |
| 26633357 | 2015 | ITSN2L Interacts with and Negatively Regulates RABEP1. | 3 |
| 26680696 | 2015 | The pleckstrin homology domain of phospholipase D1 accelerates EGFR endocytosis by increasing the expression of the Rab5 effector, rabaptin-5. | 6 |
| 24957337 | 2014 | Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5. | 27 |
| 24957337 | 2014 | Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5. | 27 |
| 22841712 | 2012 | Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking. | 9 |
| 22975325 | 2012 | PKD controls αvβ3 integrin recycling and tumor cell invasive migration through its substrate Rabaptin-5. | 28 |
| 22841712 | 2012 | Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking. | 9 |
| 22975325 | 2012 | PKD controls αvβ3 integrin recycling and tumor cell invasive migration through its substrate Rabaptin-5. | 28 |
| 21271679 | 2011 | Global 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/rabep1
