SH3GL1 gene

SH3 domain containing GRB2 like 1, endophilin A2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

From UniProt:

Implicated in endocytosis. May recruit other proteins to membranes with high curvature.

From UniProt:

In some cases of acute leukemia, a translocation results in the formation of a KMT2A/MLL1-EEN fusion gene.

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3

Molecular Location: base pairs 4,360,367 to 4,400,568 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3
  • CNSA1
  • EEN
  • SH3D2B
  • SH3P8