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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
  • SH3 Domain Containing GRB2 Like 1 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-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 Vesicle-mediated transport and EGFR downregulation. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3GL1 Gene

Genomics for SH3GL1 Gene

Regulatory Elements for SH3GL1 Gene

Enhancers for SH3GL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F004574 1.7 FANTOM5 Ensembl ENCODE 21.3 -174.9 -174916 2.5 HDGF PKNOX1 ARNT ARID4B FEZF1 ZNF2 ZNF143 ZNF548 FOS KLF13 CACTIN APBA3 CACTIN-AS1 ENSG00000267030 TICAM1 ENSG00000269807 ENSG00000267769 DPP9-AS1 SH3GL1 SEMA6B
GH19F004367 1.8 FANTOM5 Ensembl ENCODE 18.2 +25.7 25748 14.8 MLX CREB3L1 DMAP1 ZNF143 ZNF263 NFYC TBX21 MEF2D SSRP1 GLIS1 ENSG00000267769 SEMA6B CACTIN CHAF1A ENSG00000267030 SH3GL1 UBXN6 CACTIN-AS1 FSD1 TMIGD2
GH19F004340 1.2 ENCODE 25.7 +58.1 58128 3.5 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 STAP2 SH3GL1 LOC100287614 ENSG00000266959 DAPK3 ENSG00000267255 TMIGD2 FSD1 SHD CHAF1A
GH19F004539 1.4 FANTOM5 ENCODE 13.7 -139.9 -139916 2.8 HDGF ATF1 MLX SIN3A ARID4B DMAP1 YY1 SP5 GTF2B NFYC SH3GL1 ENSG00000267255 PLIN5 LRG1 KDM4B TICAM1 SEMA6B ZBTB7A CCDC94 GC19P004547
GH19F004453 1.5 FANTOM5 ENCODE 12.5 -55.5 -55492 5.1 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CHAF1A ENSG00000267769 UBXN6 SH3GL1 APBA3 ENSG00000267030 CACTIN ENSG00000269807 MRPL54 ENSG00000267205
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000342262 468 1801 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

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 Lys 239
  • 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.
  • Contains 1 BAR domain.
  • Contains 1 SH3 domain.
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: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

Human Phenotype Ontology for SH3GL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH3GL1 Gene

MGI Knock Outs for SH3GL1:

Animal Model Products

Flow Cytometry Products

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

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:0005913 cell-cell adherens junction IDA 25468996
GO:0016020 membrane 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:0098609 cell-cell adhesion IEA --
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:

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: - -
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 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.
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
rs10403835 -- 4,382,055(+) tatga(A/G)ctgca intron-variant
rs10405548 -- 4,364,900(+) tgtgt(A/G)tatat intron-variant
rs10424413 -- 4,381,876(+) tttta(A/G)tagag intron-variant
rs10424414 -- 4,381,879(+) tagta(A/G)agacg intron-variant
rs104964 -- 4,371,434(+) TGGGC(A/G)GCCTT 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)
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
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
lymphoid leukemia
clear cell hidradenoma
  • eccrine acrospiroma
childhood medulloblastoma
  • pediatric medulloblastoma
enamel caries
  • dental caries limited to enamel
- 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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