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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 Lymphoid Leukemia and Clear Cell Hidradenoma. Among its related pathways are HIV Life Cycle and MET promotes cell motility. 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

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
ENSR00000287108 568 1601 HDGF PKNOX1 CREB3L1 MLX ARNT AGO1 WRNIP1 ARID4B SIN3A YBX1

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

Genomic Location for SH3GL1 Gene

Chromosome:
19
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

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:
    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

Post-translational modifications for SH3GL1 Gene

  • Ubiquitination at isoforms=2, 3239
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SH3GL1 Gene

Domains & Families for SH3GL1 Gene

Gene Families for SH3GL1 Gene

Protein Domains for SH3GL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99961

UniProtKB/Swiss-Prot:

SH3G1_HUMAN :
  • 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.
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.
Family:
  • 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).

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: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

Inhibitory RNA 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for SH3GL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005737 cytoplasm IEA,IDA 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:

Inhibitory RNA Products

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: - -
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 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:

SH3GL1

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.

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
Systems:
  • immune
  • lymphatic
Organs:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with SH3GL1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SH3GL1 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia SH3GL1 34 35
  • 91.94 (n)
dog
(Canis familiaris)
Mammalia SH3GL1 34 35
  • 91.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL1 35
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3GL1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3gl1 34 16 35
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Sh3gl1 34
  • 86.87 (n)
chicken
(Gallus gallus)
Aves SH3GL1 34 35
  • 83.2 (n)
lizard
(Anolis carolinensis)
Reptilia SH3GL1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl1 34
  • 71.61 (n)
MGC75976 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4175 34
zebrafish
(Danio rerio)
Actinopterygii sh3gl1b 34 35
  • 72.57 (n)
sh3gl1a 35
  • 67 (a)
OneToMany
Dr.21043 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2776 34
fruit fly
(Drosophila melanogaster)
Insecta endoA 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea T04D1.3 36
  • 50 (a)
unc-57 35
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SH3GL1 (if available)
TreeFam:
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
esv2718012 CNV deletion 23290073
esv2718013 CNV deletion 23290073
esv3643501 CNV gain 21293372
nsv1072847 CNV deletion 25765185
nsv458328 CNV gain 19166990
nsv578443 CNV gain 21841781
nsv833717 CNV loss 17160897
nsv833718 CNV loss 17160897
nsv833719 CNV loss 17160897
nsv833720 CNV loss 17160897

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)
SH3GL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3GL1

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

Disorders for SH3GL1 Gene

MalaCards: The human disease database

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

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

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. {ECO:0000269 PubMed:9122235}.

Relevant External Links for SH3GL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3GL1
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 64
  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 C.W. … Chan L.C. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 22 64
  3. 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) 3 22 64
  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 B.L. … Low B.C. (J. Cell. Sci. 2005) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SH3GL1 Gene

Sources for SH3GL1 Gene

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