Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SH3GL1 Gene

Aliases for SH3GL1 Gene

  • SH3 Domain Containing GRB2 Like 1, Endophilin A2 2 3 5
  • 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 GRB2-Like 1 2 3
  • SH3 Domain Protein 2B 3 4
  • Endophilin-2 3 4
  • SH3D2B 3 4
  • CNSA1 3 4
  • EEN 3 4
  • SH3 Domain Containing GRB2 Like 1 2
  • SH3-Containing Protein EEN 2
  • SH3 Domain GRB2-Like 1 2
  • Fusion Partner Of MLL 2
  • Endophilin A2 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 Containing GRB2 Like 1, Endophilin A2) is a Protein Coding gene. Diseases associated with SH3GL1 include Leukemia, Acute Myeloid and Lymphoid Leukemia. Among its related pathways are Listeria monocytogenes entry into host cells and HIV Life Cycle. GO annotations related to this gene include identical protein binding and phosphatase binding. An important paralog of this gene is SH3GL2.

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

Additional gene information for SH3GL1 Gene

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

Genomics for SH3GL1 Gene

Regulatory Elements for SH3GL1 Gene

Enhancers around SH3GL1 on UCSC Golden Path with GeneCards custom track

Promoters for SH3GL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

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

Genomic Locations for SH3GL1 Gene

Genomic Locations for SH3GL1 Gene
40,202 bases
Minus strand

Genomic View for SH3GL1 Gene

Genes around SH3GL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3GL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SH3GL1 Gene

  • Ubiquitination at Lys239
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SH3GL1 Gene

Domains & Families for SH3GL1 Gene

Gene Families for SH3GL1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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.
  • Belongs to the endophilin family.
genes like me logo Genes that share domains with SH3GL1: view

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).

Phenotypes From GWAS Catalog for SH3GL1 Gene

Gene Ontology (GO) - Molecular Function for SH3GL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10542231
GO:0008289 lipid binding IEA --
GO:0019902 phosphatase binding IEA --
GO:0042802 identical protein binding IPI 16115810
GO:0045296 cadherin binding IDA 25468996
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:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3GL1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
endosome 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH3GL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005737 cytoplasm IDA,IEA 25468996
GO:0005768 endosome IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SH3GL1: view

Pathways & Interactions for SH3GL1 Gene

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

Pathways by source for SH3GL1 Gene

SIGNOR curated interactions for SH3GL1 Gene

Is inactivated by:
Other effect:

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
GO:0016191 synaptic vesicle uncoating IEA --
genes like me logo Genes that share ontologies with SH3GL1: view

Drugs & Compounds for SH3GL1 Gene

No Compound Related Data Available

Transcripts for SH3GL1 Gene

Unigene Clusters for SH3GL1 Gene

SH3-domain GRB2-like 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SH3GL1 Gene

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3GL1 Gene

Protein tissue co-expression partners for SH3GL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH3GL1 Gene:


SOURCE GeneReport for Unigene cluster for SH3GL1 Gene:


mRNA Expression by UniProt/SwissProt for SH3GL1 Gene:

Tissue specificity: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus.

Evidence on tissue expression from TISSUES for SH3GL1 Gene

  • Nervous system(4.8)
  • Blood(4.3)
  • Liver(4.2)
  • Pancreas(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3GL1 Gene

Germ Layers:
  • mesoderm
  • immune
  • lymphatic
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with SH3GL1: view

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
(Pan troglodytes)
Mammalia SH3GL1 33 34
  • 99.42 (n)
(Bos Taurus)
Mammalia SH3GL1 33 34
  • 91.94 (n)
(Canis familiaris)
Mammalia SH3GL1 33 34
  • 91.21 (n)
(Ornithorhynchus anatinus)
Mammalia SH3GL1 34
  • 91 (a)
(Monodelphis domestica)
Mammalia SH3GL1 34
  • 90 (a)
(Mus musculus)
Mammalia Sh3gl1 33 16 34
  • 88.04 (n)
(Rattus norvegicus)
Mammalia Sh3gl1 33
  • 86.87 (n)
(Gallus gallus)
Aves SH3GL1 33 34
  • 83.2 (n)
(Anolis carolinensis)
Reptilia SH3GL1 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl1 33
  • 71.61 (n)
MGC75976 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4175 33
(Danio rerio)
Actinopterygii sh3gl1b 33 34
  • 72.57 (n)
sh3gl1a 34
  • 67 (a)
Dr.21043 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2776 33
fruit fly
(Drosophila melanogaster)
Insecta endoA 35 34
  • 48 (a)
(Caenorhabditis elegans)
Secernentea T04D1.3 35
  • 50 (a)
unc-57 34
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
Species where no ortholog for SH3GL1 was found in the sources mined by GeneCards:
  • 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

Variants for SH3GL1 Gene

Sequence variations from dbSNP and Humsavar for SH3GL1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000005923 -- 4,375,656(+) AACAC(A/C)TCTAC intron-variant
rs1000055207 -- 4,399,857(+) CGAGG(A/G)GCAGA intron-variant
rs1000064713 -- 4,375,993(+) CAAAA(A/G)GAGCT intron-variant
rs1000106244 -- 4,402,378(+) CCCAC(A/G)CGATC upstream-variant-2KB
rs1000165276 -- 4,362,444(+) CCTTC(C/T)GCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833720 CNV loss 17160897
nsv833719 CNV loss 17160897
nsv833718 CNV loss 17160897
nsv833717 CNV loss 17160897
nsv578443 CNV gain 21841781
nsv458328 CNV gain 19166990
nsv1072847 CNV deletion 25765185
esv3643501 CNV gain 21293372
esv2718013 CNV deletion 23290073
esv2718012 CNV deletion 23290073

Variation tolerance for SH3GL1 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3GL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SH3GL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SH3GL1 Gene - From: HGMD, OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
lymphoid leukemia
clear cell hidradenoma
  • eccrine acrospiroma
enamel caries
  • dental caries limited to enamel
childhood medulloblastoma
  • pediatric medulloblastoma
- elite association - COSMIC cancer census association via MalaCards


  • Note=In some cases of acute leukemia, a translocation results in the formation of a KMT2A/MLL1-EEN fusion gene. {ECO:0000269 PubMed:9122235}.

Relevant External Links for SH3GL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SH3GL1: view

No data available for Genatlas for SH3GL1 Gene

Publications for SH3GL1 Gene

  1. 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 60
  2. 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 CW … Chan LC (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 60
  3. Aberrant transcriptional regulation of the MLL fusion partner EEN by AML1-ETO and its implication in leukemogenesis. (PMID: 16990610) Ma LH … Chen SJ (Blood 2007) 3 22 60
  4. Activation of EGF receptor endocytosis and ERK1/2 signaling by BPGAP1 requires direct interaction with EEN/endophilin II and a functional RhoGAP domain. (PMID: 15944398) Lua BL … Low BC (Journal of cell science 2005) 3 22 60
  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 JW … Chan LC (Blood 2004) 3 22 60

Products for SH3GL1 Gene

Sources for SH3GL1 Gene

Loading form....