Identity
HGNC
LOCATION
2q21.3
LOCUSID
ALIAS
P130,RAB3GAP,RAB3GAP130,WARBM1
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: 22930
MIM: 602536
HGNC: 17063
Ensembl: ENSG00000115839
Variants:
dbSNP: 22930
ClinVar: 22930
TCGA: ENSG00000115839
COSMIC: RAB3GAP1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37186309 | 2023 | Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family. | 0 |
| 37186309 | 2023 | Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family. | 0 |
| 33910511 | 2021 | Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. | 1 |
| 34169395 | 2021 | Proteasomal degradation of p130 facilitate cell cycle deregulation and impairment of cellular differentiation in high-risk Human Papillomavirus 16 and 18 E7 transfected cells. | 3 |
| 33910511 | 2021 | Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. | 1 |
| 34169395 | 2021 | Proteasomal degradation of p130 facilitate cell cycle deregulation and impairment of cellular differentiation in high-risk Human Papillomavirus 16 and 18 E7 transfected cells. | 3 |
| 32740904 | 2020 | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | 4 |
| 33306828 | 2020 | [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]. | 0 |
| 32740904 | 2020 | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | 4 |
| 33306828 | 2020 | [Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene]. | 0 |
| 30730599 | 2019 | Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes. | 4 |
| 30730599 | 2019 | Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes. | 4 |
| 29987913 | 2018 | Stable overexpression of p130/E2F4 affects the multipotential abilities of bone-marrow-derived mesenchymal stem cells. | 6 |
| 29987913 | 2018 | Stable overexpression of p130/E2F4 affects the multipotential abilities of bone-marrow-derived mesenchymal stem cells. | 6 |
| 28342870 | 2017 | The RAB GTPase RAB18 modulates macroautophagy and proteostasis. | 24 |
Citation
Dessen P
RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56523/rab3gap1-(rab3-gtpase-activating-protein-catalytic-subunit-1)
