Homo sapiens Gene: SH3GL1
Summary
InnateDB Gene IDBG-18865.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SH3GL1
Gene Name SH3-domain GRB2-like 1
Synonyms CNSA1; EEN; SH3D2B; SH3P8
Species Homo sapiens
Ensembl Gene ENSG00000141985
Encoded Proteins
SH3-domain GRB2-like 1
SH3-domain GRB2-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:4360370-4400547
Strand Reverse strand
Band p13.3
Transcripts
ENST00000269886 ENSP00000269886
ENST00000417295 ENSP00000404568
ENST00000593591 ENSP00000471260
ENST00000598219 ENSP00000472640
ENST00000598230 ENSP00000469766
ENST00000598564 ENSP00000470792
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 69 [view]
Protein-Protein 69 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0019902 phosphatase binding
GO:0042802 identical protein binding
GO:0051020 GTPase binding
Biological Process
GO:0006897 endocytosis
GO:0007165 signal transduction
GO:0007417 central nervous system development
Cellular Component
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0030054 cell junction
GO:0031901 early endosome membrane
GO:0042995 cell projection
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Endocytosis pathway
INOH
PID NCI
Signaling events mediated by focal adhesion kinase
Cross-References
SwissProt
TrEMBL M0QYE0 M0R2K6
UniProt Splice Variant
Entrez Gene 6455
UniGene Hs.97616
RefSeq NM_001199943 NM_001199944 NM_003025
HUGO HGNC:10830
OMIM 601768
CCDS CCDS32874 CCDS56076 CCDS59335
HPRD 03462
IMGT
EMBL AC007292 AC011498
GenPept
RNA Seq Atlas 6455