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Aliases for SH3GL1 Gene

Aliases for SH3GL1 Gene

  • SH3-Domain GRB2-Like 1 2 3
  • EEN 3 4 6
  • Extra Eleven-Nineteen Leukemia Fusion Gene Protein 3 4
  • SH3 Domain-Containing GRB2-Like Protein 1 3 4
  • SH3-Containing Grb-2-Like 1 Protein 2 3
  • Extra 11-19 Leukemia Fusion 2 3
  • EEN Fusion Partner Of MLL 3 4
  • SH3 Domain Protein 2B 3 4
  • Endophilin-2 3 4
  • SH3D2B 3 4
  • CNSA1 3 4
  • SH3-Containing Protein EEN 2
  • SH3 Domain GRB2-Like 1 2
  • Fusion Partner Of MLL 2
  • Endophilin-A2 3
  • SH3P8 3

External Ids for SH3GL1 Gene

Previous GeneCards Identifiers for SH3GL1 Gene

  • GC19M004452
  • GC19M004300
  • GC19M004311
  • GC19M004122

Summaries for SH3GL1 Gene

Entrez Gene Summary for SH3GL1 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]

GeneCards Summary for SH3GL1 Gene

SH3GL1 (SH3-Domain GRB2-Like 1) is a Protein Coding gene. Diseases associated with SH3GL1 include lymphoid leukemia and leukemia. Among its related pathways are Endocytosis and Signaling events mediated by focal adhesion kinase. GO annotations related to this gene include identical protein binding and phosphatase binding. An important paralog of this gene is SH3GLB2.

UniProtKB/Swiss-Prot for SH3GL1 Gene

  • Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

Gene Wiki entry for SH3GL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3GL1 Gene

Genomics for SH3GL1 Gene

Regulatory Elements for SH3GL1 Gene

Transcription factor binding sites by QIAGEN in the SH3GL1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SH3GL1 Gene

4,360,367 bp from pter
4,400,568 bp from pter
40,202 bases
Minus strand

Genomic View for SH3GL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SH3GL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GL1 Gene

Proteins for SH3GL1 Gene

  • Protein details for SH3GL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DRA1
    • E7EVZ4
    • M0QZV5
    • Q99668

    Protein attributes for SH3GL1 Gene

    368 amino acids
    Molecular mass:
    41490 Da
    Quaternary structure:
    • Interacts with ARC (By similarity). Interacts with SYNJ1 and DNM1. Interacts with PDCD6IP. Interacts with BIN2.

    Alternative splice isoforms for SH3GL1 Gene


neXtProt entry for SH3GL1 Gene

Proteomics data for SH3GL1 Gene at MOPED

Post-translational modifications for SH3GL1 Gene

  • Ubiquitination at Lys239
  • Modification sites at PhosphoSitePlus

Other Protein References for SH3GL1 Gene

Antibody Products

No data available for DME Specific Peptides for SH3GL1 Gene

Domains for SH3GL1 Gene

Protein Domains for SH3GL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.
  • Belongs to the endophilin family.
  • An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
  • Belongs to the endophilin family.
genes like me logo Genes that share domains with SH3GL1: view

No data available for Gene Families for SH3GL1 Gene

Function for SH3GL1 Gene

Molecular function for SH3GL1 Gene

GENATLAS Biochemistry:
Src-homology 3 domain GRB2-like gene 1,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

Gene Ontology (GO) - Molecular Function for SH3GL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16115810
GO:0008289 lipid binding IEA --
GO:0019902 phosphatase binding IEA --
GO:0042802 identical protein binding IPI 16115810
GO:0051020 GTPase binding IEA --
genes like me logo Genes that share ontologies with SH3GL1: view
genes like me logo Genes that share phenotypes with SH3GL1: view

Animal Models for SH3GL1 Gene

MGI Knock Outs for SH3GL1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SH3GL1 Gene

Localization for SH3GL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3GL1 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Cell projection, podosome. Note=Associated with postsynaptic endosomes in hippocampal neurons. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for SH3GL1 Gene COMPARTMENTS Subcellular localization image for SH3GL1 gene
Compartment Confidence
cytoskeleton 5
endosome 5
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SH3GL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005737 cytoplasm IDA --
GO:0005768 endosome --
GO:0016020 membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SH3GL1: view

Pathways for SH3GL1 Gene

genes like me logo Genes that share pathways with SH3GL1: view

Pathways by source for SH3GL1 Gene

1 BioSystems pathway for SH3GL1 Gene
1 KEGG pathway for SH3GL1 Gene

Gene Ontology (GO) - Biological Process for SH3GL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction TAS 9169142
GO:0007417 central nervous system development TAS 9169142
genes like me logo Genes that share ontologies with SH3GL1: view

Transcripts for SH3GL1 Gene

Unigene Clusters for SH3GL1 Gene

SH3-domain GRB2-like 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH3GL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3GL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -

Relevant External Links for SH3GL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SH3GL1 Gene

mRNA expression in normal human tissues for SH3GL1 Gene

Protein differential expression in normal tissues for SH3GL1 Gene

This gene is overexpressed in Brain (8.9), Bone marrow stromal cell (8.1), and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3GL1 Gene

SOURCE GeneReport for Unigene cluster for SH3GL1 Gene Hs.97616

mRNA Expression by UniProt/SwissProt for SH3GL1 Gene

Tissue specificity: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus
genes like me logo Genes that share expressions with SH3GL1: view

Expression partners for SH3GL1 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SH3GL1 Gene

Orthologs for SH3GL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3GL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SH3GL1 35
  • 91.94 (n)
  • 97.01 (a)
SH3GL1 36
  • 97 (a)
(Canis familiaris)
Mammalia SH3GL1 35
  • 91.21 (n)
  • 97.28 (a)
SH3GL1 36
  • 87 (a)
(Mus musculus)
Mammalia Sh3gl1 35
  • 88.04 (n)
  • 94.02 (a)
Sh3gl1 16
Sh3gl1 36
  • 94 (a)
(Pan troglodytes)
Mammalia SH3GL1 35
  • 99.42 (n)
  • 99.3 (a)
SH3GL1 36
  • 88 (a)
(Rattus norvegicus)
Mammalia Sh3gl1 35
  • 86.87 (n)
  • 92.93 (a)
(Monodelphis domestica)
Mammalia SH3GL1 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia SH3GL1 36
  • 91 (a)
(Gallus gallus)
Aves SH3GL1 35
  • 83.2 (n)
  • 91.55 (a)
SH3GL1 36
  • 91 (a)
(Anolis carolinensis)
Reptilia SH3GL1 36
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75976 35
sh3gl1 35
  • 71.61 (n)
  • 85.16 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4175 35
(Danio rerio)
Actinopterygii Dr.21043 35
sh3gl1b 35
  • 72.57 (n)
  • 78.86 (a)
sh3gl1a 36
  • 67 (a)
sh3gl1b 36
  • 78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2776 35
fruit fly
(Drosophila melanogaster)
Insecta endoA 37
  • 48 (a)
endoA 36
  • 49 (a)
(Caenorhabditis elegans)
Secernentea T04D1.3 37
  • 50 (a)
unc-57 36
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
Species with no ortholog for SH3GL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3GL1 Gene

Gene Tree for SH3GL1 (if available)
Gene Tree for SH3GL1 (if available)

Paralogs for SH3GL1 Gene

Paralogs for SH3GL1 Gene

genes like me logo Genes that share paralogs with SH3GL1: view

Variants for SH3GL1 Gene

Sequence variations from dbSNP and Humsavar for SH3GL1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs142891753 -- 4,372,582(+) GGCAA(A/G)GGATG intron-variant
rs146283394 -- 4,387,840(+) TACTA(C/T)GCCCG intron-variant
rs142802456 -- 4,365,602(+) GTTGA(A/G)CATGG intron-variant, reference, missense
rs142737685 -- 4,377,903(+) CTCGC(A/G)TTTGG intron-variant
rs146583083 -- 4,360,948(+) ATGTT(C/T)TCTGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SH3GL1 Gene

Variant ID Type Subtype PubMed ID
nsv910817 CNV Loss 21882294
nsv833717 CNV Loss 17160897
nsv833718 CNV Loss 17160897
nsv910820 CNV Gain 21882294
dgv3674n71 CNV Loss 21882294
dgv3675n71 CNV Loss 21882294
nsv458328 CNV Gain 19166990
nsv833719 CNV Loss 17160897
nsv910827 CNV Loss 21882294
nsv833720 CNV Loss 17160897
esv2718012 CNV Deletion 23290073
esv2718013 CNV Deletion 23290073

Relevant External Links for SH3GL1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3GL1 Gene

Disorders for SH3GL1 Gene

(1) OMIM Diseases for SH3GL1 Gene (601768)


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

(1) University of Copenhagen DISEASES for SH3GL1 Gene

(1) Novoseek inferred disease relationships for SH3GL1 Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 75.7 4
genes like me logo Genes that share disorders with SH3GL1: view

No data available for Genatlas and External Links for SH3GL1 Gene

Publications for SH3GL1 Gene

  1. EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia. (PMID: 9122235) So C.W. … Chan L.C. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23
  2. A novel SH3-containing human gene family preferentially expressed in the central nervous system. (PMID: 9169142) Giachino C. … Migone N. (Genomics 1997) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The SH3 domains of endophilin and amphiphysin bind to the proline- rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity. (PMID: 10542231) Cestra G. … Cesareni G. (J. Biol. Chem. 1999) 3 4
  5. Identification 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. (PMID: 14551139) Yam J.W. … Chan L.C. (Blood 2004) 3 23

Products for SH3GL1 Gene

Sources for SH3GL1 Gene

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