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 3
  • Endophilin A2 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 Containing GRB2 Like 1, Endophilin A2) is a Protein Coding gene. Diseases associated with SH3GL1 include Clear Cell Hidradenoma and Leukemia, Acute Myeloid. Among its related pathways are Signaling events mediated by focal adhesion kinase and Clathrin-mediated endocytosis. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for SH3GL1 Gene

Promoters and enhancers for SH3GL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J004398 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 661.5 -1.0 -1005 6.8 MLX YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 CHAF1A SH3GL1 PIR37989 ENSG00000267769 CACTIN-AS1 CACTIN ENSG00000267030 YJU2 UBXN6 APBA3
GH19J004453 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.3 -55.5 -55491 5.1 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 UBXN6 ENSG00000267769 CHAF1A ENSG00000267030 APBA3 CACTIN-AS1 SH3GL1 YJU2 DPP9-AS1 CACTIN
GH19J004340 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.7 +58.1 58125 3.5 HDGF FOXA2 PKNOX1 CLOCK MLX ARID4B NEUROD1 SIN3A DMAP1 YY1 STAP2 MPND SH3GL1 ENSG00000267255 FSD1 TMIGD2 SHD CHAF1A YJU2 ENSG00000269425
GH19J003760 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.1 +638.3 638325 3 ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 MRPL54 APBA3 GC19M003753 LOC105372248 CACTIN-AS1 YJU2 ENSG00000267030 CACTIN ZNF77 DPP9-AS1
GH19J004246 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.7 +153.2 153236 2.2 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 MCM3 YJU2 ENSG00000280247 CACTIN CACTIN-AS1 ENSG00000267030 ENSG00000267769 APBA3 HDGFL2 KDM4B PIAS4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3GL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH3GL1 gene promoter:
  • AML1a
  • AP-1

Genomic Locations for SH3GL1 Gene

Genomic Locations for SH3GL1 Gene
chr19:4,360,367-4,400,568
(GRCh38/hg38)
Size:
40,202 bases
Orientation:
Minus strand
chr19:4,360,364-4,400,565
(GRCh37/hg19)
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

HGNC:
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

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

UniProtKB/Swiss-Prot Function:
Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).
GENATLAS Biochemistry:
Src-homology 3 domain GRB2-like gene 1,ubiquitously expressed

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,IEA 10542231
GO:0008022 protein C-terminus binding IEA --
GO:0008289 lipid binding IEA --
GO:0017124 SH3 domain binding IEA --
GO:0019902 phosphatase 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:

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

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

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 IEA,IDA 25468996
GO:0005768 endosome IEA --
GO:0005829 cytosol IDA --
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:0016191 synaptic vesicle uncoating IEA --
GO:0098815 modulation of excitatory postsynaptic potential 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: - -
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, 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
Regions:
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia SH3GL1 34 33
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SH3GL1 34 33
  • 91.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SH3GL1 34 33
  • 91.21 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL1 34
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3GL1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3gl1 16 34 33
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Sh3gl1 33
  • 86.87 (n)
chicken
(Gallus gallus)
Aves SH3GL1 34 33
  • 83.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3GL1 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl1 33
  • 71.61 (n)
MGC75976 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4175 33
zebrafish
(Danio rerio)
Actinopterygii sh3gl1b 34 33
  • 72.57 (n)
OneToMany
sh3gl1a 34
  • 67 (a)
OneToMany
Dr.21043 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2776 33
fruit fly
(Drosophila melanogaster)
Insecta endoA 34 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04D1.3 35
  • 50 (a)
unc-57 34
  • 46 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SH3GL1: view image

Paralogs for SH3GL1 Gene

Paralogs for SH3GL1 Gene

(52) SIMAP similar genes for SH3GL1 Gene using alignment to 7 proteins:

  • SH3G1_HUMAN
  • M0QYE0_HUMAN
  • M0R0I3_HUMAN
  • M0R2K6_HUMAN
  • Q6FGM0_HUMAN
  • Q9BVL7_HUMAN
  • Q9BWP4_HUMAN

Pseudogenes.org Pseudogenes 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 Variation AA Info Type
rs1000005923 -- 4,375,656(-) A/C intron_variant
rs1000055207 -- 4,399,857(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000064713 -- 4,375,993(-) G/A intron_variant
rs1000106244 -- 4,402,378(-) G/A upstream_transcript_variant
rs1000165276 -- 4,362,444(-) T/C 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)

Additional Variant Information 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: HGMD, OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
clear cell hidradenoma
  • clear cell myoepithelioma
leukemia, acute myeloid
  • aml
lymphoid leukemia
diaphragmatic eventration
anterograde amnesia
  • amnesia, anterograde
- 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}.

Additional Disease Information for 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 58
  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 58
  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 58
  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 58
  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 58

Products for SH3GL1 Gene

Sources for SH3GL1 Gene

Content
Loading form....