Identity
HGNC
LOCATION
9q33.3
LOCUSID
ALIAS
GAPEX5,GAPex-5,RAP6
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: 26130
MIM: 611714
HGNC: 23375
Ensembl: ENSG00000165219
Variants:
dbSNP: 26130
ClinVar: 26130
TCGA: ENSG00000165219
COSMIC: GAPVD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444987 | Multiple Sclerosis | Disease | ClinicalAnnotation | associated | PD | 27001119 | |
| PA450037 | interferon beta-1a | Chemical | ClinicalAnnotation | associated | PD | 27001119 | |
| PA450039 | interferon beta-1b | Chemical | ClinicalAnnotation | associated | PD | 27001119 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33548618 | 2021 | An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis. | 0 |
| 33917494 | 2021 | Phosphorylation of GAPVD1 Is Regulated by the PER Complex and Linked to GAPVD1 Degradation. | 0 |
| 33548618 | 2021 | An interdependence between GAPVD1 gene polymorphism, expression level and response to interferon beta in patients with multiple sclerosis. | 0 |
| 33917494 | 2021 | Phosphorylation of GAPVD1 Is Regulated by the PER Complex and Linked to GAPVD1 Degradation. | 0 |
| 32321936 | 2020 | CRISPR-mediated gene targeting of CK1δ/ε leads to enhanced understanding of their role in endocytosis via phosphoregulation of GAPVD1. | 5 |
| 32321936 | 2020 | CRISPR-mediated gene targeting of CK1δ/ε leads to enhanced understanding of their role in endocytosis via phosphoregulation of GAPVD1. | 5 |
| 31358736 | 2019 | SPIN90, an adaptor protein, alters the proximity between Rab5 and Gapex5 and facilitates Rab5 activation during EGF endocytosis. | 5 |
| 31358736 | 2019 | SPIN90, an adaptor protein, alters the proximity between Rab5 and Gapex5 and facilitates Rab5 activation during EGF endocytosis. | 5 |
| 17545148 | 2007 | GAPex-5 mediates ubiquitination, trafficking, and degradation of epidermal growth factor receptor. | 20 |
| 17545148 | 2007 | GAPex-5 mediates ubiquitination, trafficking, and degradation of epidermal growth factor receptor. | 20 |
Citation
Dessen P
GAPVD1 (GTPase activating protein and VPS9 domains 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54323/gapvd1-(gtpase-activating-protein-and-vps9-domains-1)
