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Aliases for SH3GL1 Gene

Aliases for SH3GL1 Gene

  • SH3-Domain GRB2-Like 1 2 3
  • 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
  • EEN 3 4
  • SH3-Containing Protein EEN 2
  • SH3 Domain GRB2-Like 1 2
  • Fusion Partner Of MLL 2
  • 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 clear cell hidradenoma and lymphoid 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 Lys 239
  • Modification sites at PhosphoSitePlus

Other Protein References for SH3GL1 Gene

No data available for DME Specific Peptides for SH3GL1 Gene

Domains & Families 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 3
endosome 3
cytosol 2
nucleus 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:0030054 cell junction IEA --
GO:0031901 early endosome membrane IEA --
GO:0042995 cell projection 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

1 BioSystems pathway for SH3GL1 Gene
1 KEGG pathway 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
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:

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 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, 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 expression patterns with SH3GL1: view

Protein tissue co-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
rs11322 -- 4,360,630(+) ATGTC(A/G)GGGCT utr-variant-3-prime
rs73234 -- 4,394,313(+) CTAGC(C/G)GCATT intron-variant
rs104964 -- 4,371,434(+) TGGGC(A/G)GCCTT intron-variant
rs107288 -- 4,365,400(+) GCACA(C/T)GCAGG intron-variant
rs125717 -- 4,393,970(+) ACCCC(A/C)CTGGC intron-variant

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

Variation tolerance for SH3GL1 Gene

Residual Variation Intolerance Score: 24.73% 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

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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
clear cell hidradenoma
  • clear cell myoepithelioma
lymphoid leukemia
  • eccrine acrospiroma
childhood medulloblastoma
  • medulloblastoma
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association


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

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. Aberrant transcriptional regulation of the MLL fusion partner EEN by AML1-ETO and its implication in leukemogenesis. (PMID: 16990610) Ma L.H. … Chen S.J. (Blood 2007) 23 67
  2. 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 B.L. … Low B.C. (J. Cell. Sci. 2005) 23 67
  3. 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) 23 67
  4. Functional contribution of EEN to leukemogenic transformation by MLL-EEN fusion protein. (PMID: 15077184) Liu H. … Chen S.J. (Oncogene 2004) 23 67
  5. A novel SH3-containing human gene family preferentially expressed in the central nervous system. (PMID: 9169142) Giachino C. … Migone N. (Genomics 1997) 2 67

Products for SH3GL1 Gene

Sources for SH3GL1 Gene

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