SH3GL1 (extra eleven nineteen leukemia fusion gene)

1997-12-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
19p13.3
LOCUSID
FUSION GENES

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

Entity name
t(11;19)(q23;p13)/AML --> KMT2A - EEN
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

Gene IDTranscript IDUniprot
ENSG00000141985ENST00000269886Q99961
ENSG00000141985ENST00000269886Q6FGM0
ENSG00000141985ENST00000417295Q99961
ENSG00000141985ENST00000593591M0R0I3
ENSG00000141985ENST00000598219M0R2K6
ENSG00000141985ENST00000598230M0QYE0
ENSG00000141985ENST00000598564Q99961

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
EGFR downregulationREACTOMER-HSA-182971
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825
Signaling by METREACTOMER-HSA-6806834
Negative regulation of MET activityREACTOMER-HSA-6807004
Listeria monocytogenes entry into host cellsREACTOMER-HSA-8876384
InlB-mediated entry of Listeria monocytogenes into host cellREACTOMER-HSA-8875360

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
255170962015Endophilin-A2 functions in membrane scission in clathrin-independent endocytosis.96
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
300616812018FBP17 and CIP4 recruit SHIP2 and lamellipodin to prime the plasma membrane for fast endophilin-mediated endocytosis.13
159443982005Activation of EGF receptor endocytosis and ERK1/2 signaling by BPGAP1 requires direct interaction with EEN/endophilin II and a functional RhoGAP domain.12
230508792012Autologous antibody to src-homology 3-domain GRB2-like 1 specifically increases in the sera of patients with low-grade gliomas.12
227500322012Characterization of two distinct modes of endophilin in clathrin-mediated endocytosis.8
145511392004Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein.7
257847162015Endophilin A2 Promotes TNBC Cell Invasion and Tumor Metastasis.6
289742662017Endophilin A2 promotes HER2 internalization and sensitivity to trastuzumab-based therapy in HER2-positive breast cancers.6
239700612013miR-218 is downregulated and directly targets SH3GL1 in childhood medulloblastoma.5

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