SH3GL1 (extra eleven nineteen leukemia fusion gene)
1997-12-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
DNA/RNA
Transcription
multiple transcript sizes, from 1 kb to the major form of 2.6 kb
Proteins
Description
368 amino acids; 46 kDa (major product); contains a central
alpha-helical region and a SH3 (SRC homology 3) domain in C-term
Expression
wide, especially in the pancreas
Homology
GRB2
Implicated in
Disease
yet unknown (only one case)
Hybrid gene
5 MLL- 3 EEN; breakpoint at exon 6 of MLL
Fusion protein
includes the N-term of MLL (with the AT hook and DNA binding
motifs) and the major functional domain of EEN
Other Information
Locus ID:
NCBI: 6455
MIM: 601768
HGNC: 10830
Ensembl: ENSG00000141985
Variants:
dbSNP: 6455
ClinVar: 6455
TCGA: ENSG00000141985
COSMIC: SH3GL1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37812440 | 2023 | The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2. | 0 |
| 37812440 | 2023 | The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2. | 0 |
| 34323351 | 2021 | Endophilin A2 regulates B-cell endocytosis and is required for germinal center and humoral responses. | 7 |
| 34323351 | 2021 | Endophilin A2 regulates B-cell endocytosis and is required for germinal center and humoral responses. | 7 |
| 31132962 | 2019 | Endophilin-A2-mediated endocytic pathway is critical for enterovirus 71 entry into caco-2 cells. | 15 |
| 31132962 | 2019 | Endophilin-A2-mediated endocytic pathway is critical for enterovirus 71 entry into caco-2 cells. | 15 |
| 30061681 | 2018 | FBP17 and CIP4 recruit SHIP2 and lamellipodin to prime the plasma membrane for fast endophilin-mediated endocytosis. | 48 |
| 30061681 | 2018 | FBP17 and CIP4 recruit SHIP2 and lamellipodin to prime the plasma membrane for fast endophilin-mediated endocytosis. | 48 |
| 28702842 | 2017 | Essential role of SH3GL1 in interleukin-6(IL-6)- and vascular endothelial growth factor (VEGF)-triggered p130(cas)-mediated proliferation and migration of osteosarcoma cells. | 3 |
| 28974266 | 2017 | Endophilin A2 promotes HER2 internalization and sensitivity to trastuzumab-based therapy in HER2-positive breast cancers. | 18 |
| 29113429 | 2017 | Endophilin A2: A Potential Link to Adiposity and Beyond. | 2 |
| 28702842 | 2017 | Essential role of SH3GL1 in interleukin-6(IL-6)- and vascular endothelial growth factor (VEGF)-triggered p130(cas)-mediated proliferation and migration of osteosarcoma cells. | 3 |
| 28974266 | 2017 | Endophilin A2 promotes HER2 internalization and sensitivity to trastuzumab-based therapy in HER2-positive breast cancers. | 18 |
| 29113429 | 2017 | Endophilin A2: A Potential Link to Adiposity and Beyond. | 2 |
| 27220321 | 2016 | SH3GL1 inhibition reverses multidrug resistance in colorectal cancer cells by downregulation of MDR1/P-glycoprotein via EGFR/ERK/AP-1 pathway. | 6 |
Citation
Jean-Loup Huret
SH3GL1 (extra eleven nineteen leukemia fusion gene)
Atlas Genet Cytogenet Oncol Haematol. 1997-12-01
Online version: http://atlasgeneticsoncology.org/gene/8/sh3gl1-(extra-eleven-nineteen-leukemia-fusion-gene)
