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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

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

Genomic Location for SH3GL1 Gene

Start:
4,360,367 bp from pter
End:
4,400,568 bp from pter
Size:
40,202 bases
Orientation:
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

Regulatory Elements for SH3GL1 Gene

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

Proteins for SH3GL1 Gene

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

    Protein Symbol:
    Q99961-SH3G1_HUMAN
    Recommended name:
    Endophilin-A2
    Protein Accession:
    Q99961
    Secondary Accessions:
    • B4DRA1
    • E7EVZ4
    • M0QZV5
    • Q99668

    Protein attributes for SH3GL1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3GL1 Gene

Proteomics data for SH3GL1 Gene at MOPED

Post-translational modifications for SH3GL1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys239

Other Protein References for SH3GL1 Gene

No data available for DME Specific Peptides for SH3GL1 Gene

Domains for SH3GL1 Gene

Protein Domains for SH3GL1 Gene

UniProtKB/Swiss-Prot:

SH3G1_HUMAN
Domain:
  • 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.:
    • Q99961
  • Contains 1 BAR domain.:
    • Q99961
  • Contains 1 SH3 domain.:
    • Q99961
Family:
  • Belongs to the endophilin family.:
    • Q99961
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 Targeting 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

COMPARTMENTS
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:

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2:

Relevant External Links for SH3GL1 Gene

GeneLoc Exon Structure for
SH3GL1
ECgene alternative splicing isoforms for
SH3GL1

Expression for SH3GL1 Gene

mRNA expression in normal human tissues for SH3GL1 Gene

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

Q99961-SH3G1_HUMAN
Tissue specificity: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus
genes like me logo Genes that share expressions with SH3GL1: view

Orthologs for SH3GL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3GL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3GL1 36
  • 99.42 (n)
  • 99.3 (a)
SH3GL1 37
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3GL1 36
  • 91.94 (n)
  • 97.01 (a)
SH3GL1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3GL1 36
  • 91.21 (n)
  • 97.28 (a)
SH3GL1 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3gl1 36
  • 88.04 (n)
  • 94.02 (a)
Sh3gl1 16
Sh3gl1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3GL1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL1 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3gl1 36
  • 86.87 (n)
  • 92.93 (a)
chicken
(Gallus gallus)
Aves SH3GL1 36
  • 83.2 (n)
  • 91.55 (a)
SH3GL1 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3GL1 37
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4175 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75976 36
sh3gl1 36
  • 71.61 (n)
  • 85.16 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2776 36
zebrafish
(Danio rerio)
Actinopterygii Dr.21043 36
sh3gl1a 37
  • 67 (a)
OneToMany
sh3gl1b 36
  • 72.57 (n)
  • 78.86 (a)
sh3gl1b 37
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta endoA 37
  • 49 (a)
OneToMany
endoA 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-57 37
  • 46 (a)
OneToMany
T04D1.3 38
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 54 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SH3GL1 (if available)
TreeFam:
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

Relevant External Links for SH3GL1 Gene

HapMap Linkage Disequilibrium report
SH3GL1
Human Gene Mutation Database (HGMD)
SH3GL1

Disorders for SH3GL1 Gene

(1) OMIM Diseases for SH3GL1 Gene (601768)

UniProtKB/Swiss-Prot

SH3G1_HUMAN
  • 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

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. 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
  5. Functional contribution of EEN to leukemogenic transformation by MLL-EEN fusion protein. (PMID: 15077184) Liu H. … Chen S.J. (Oncogene 2004) 3 23

Products for SH3GL1 Gene

Sources for SH3GL1 Gene

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