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Aliases for SH3GL3 Gene

Aliases for SH3GL3 Gene

  • SH3-Domain GRB2-Like 3 2 3
  • SH3 Domain-Containing GRB2-Like Protein 3 3 4
  • SH3 Domain Protein 2C 3 4
  • Endophilin-3 3 4
  • EEN-B2 3 4
  • SH3D2C 3 4
  • CNSA3 3 4
  • Endophilin-A3 3
  • HsT19371 3
  • SH3P13 3

External Ids for SH3GL3 Gene

Summaries for SH3GL3 Gene

GeneCards Summary for SH3GL3 Gene

SH3GL3 (SH3-Domain GRB2-Like 3) is a Protein Coding gene. Among its related pathways are Endocytosis and EGFR1 Signaling Pathway. GO annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is SH3GLB2.

UniProtKB/Swiss-Prot for SH3GL3 Gene

  • Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).

Gene Wiki entry for SH3GL3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3GL3 Gene

Genomics for SH3GL3 Gene

Genomic Location for SH3GL3 Gene

Start:
83,447,228 bp from pter
End:
83,618,743 bp from pter
Size:
171,516 bases
Orientation:
Plus strand

Genomic View for SH3GL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SH3GL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GL3 Gene

Regulatory Elements for SH3GL3 Gene

Proteins for SH3GL3 Gene

  • Protein details for SH3GL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99963-SH3G3_HUMAN
    Recommended name:
    Endophilin-A3
    Protein Accession:
    Q99963
    Secondary Accessions:
    • O43553
    • O43554

    Protein attributes for SH3GL3 Gene

    Size:
    347 amino acids
    Molecular mass:
    39285 Da
    Quaternary structure:
    • Interacts with ARC (By similarity). Interacts with DNM1, SGIP1 and SYNJ1. Interacts with the huntingtin exon 1 protein (HDEX1P) containing a glutamine repeat in the pathological range and promotes formation of insoluble polyglutamine-containing aggregates in vivo. Interacts with DYDC1. Interacts with FASLG. Interacts with ATX2. Interacts with BIN2.

    Three dimensional structures from OCA and Proteopedia for SH3GL3 Gene

    Alternative splice isoforms for SH3GL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3GL3 Gene

Proteomics data for SH3GL3 Gene at MOPED

Post-translational modifications for SH3GL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH3GL3 Gene

No data available for DME Specific Peptides for SH3GL3 Gene

Domains for SH3GL3 Gene

Protein Domains for SH3GL3 Gene

UniProtKB/Swiss-Prot:

SH3G3_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.:
    • Q99963
  • Contains 1 BAR domain.:
    • Q99963
  • Contains 1 SH3 domain.:
    • Q99963
Family:
  • Belongs to the endophilin family.:
    • Q99963
genes like me logo Genes that share domains with SH3GL3: view

No data available for Gene Families for SH3GL3 Gene

Function for SH3GL3 Gene

Molecular function for SH3GL3 Gene

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

Gene Ontology (GO) - Molecular Function for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15383276
GO:0008289 lipid binding IEA --
GO:0042802 identical protein binding IPI 16115810
genes like me logo Genes that share ontologies with SH3GL3: view
genes like me logo Genes that share phenotypes with SH3GL3: view

Animal Models for SH3GL3 Gene

MGI Knock Outs for SH3GL3:

miRNA for SH3GL3 Gene

miRTarBase miRNAs that target SH3GL3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SH3GL3 Gene

Localization for SH3GL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3GL3 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Associated with postsynaptic endosomes in hippocampal neurons. Associated with presynaptic endosomes in olfactory neurons (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3GL3 Gene COMPARTMENTS Subcellular localization image for SH3GL3 gene
Compartment Confidence
endosome 5
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SH3GL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005768 endosome --
GO:0016020 membrane --
GO:0031901 early endosome membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SH3GL3: view

Pathways for SH3GL3 Gene

SuperPathways for SH3GL3 Gene

genes like me logo Genes that share pathways with SH3GL3: view

Pathways by source for SH3GL3 Gene

1 BioSystems pathway for SH3GL3 Gene
1 KEGG pathway for SH3GL3 Gene

Gene Ontology (GO) - Biological Process for SH3GL3 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 SH3GL3: view

Compounds for SH3GL3 Gene

(1) Novoseek inferred chemical compound relationships for SH3GL3 Gene

Compound -log(P) Hits PubMed IDs
glutamine 44 2
genes like me logo Genes that share compounds with SH3GL3: view

Transcripts for SH3GL3 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for SH3GL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - -

Relevant External Links for SH3GL3 Gene

GeneLoc Exon Structure for
SH3GL3
ECgene alternative splicing isoforms for
SH3GL3

Expression for SH3GL3 Gene

mRNA expression in normal human tissues for SH3GL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3GL3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (6.5), Brain - Hippocampus (5.5), Brain - Substantia nigra (5.1), Brain - Amygdala (4.5), and Brain - Hypothalamus (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3GL3 Gene

SOURCE GeneReport for Unigene cluster for SH3GL3 Gene Hs.270055

mRNA Expression by UniProt/SwissProt for SH3GL3 Gene

Q99963-SH3G3_HUMAN
Tissue specificity: Brain and testis
genes like me logo Genes that share expressions with SH3GL3: view

Orthologs for SH3GL3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SH3GL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3GL3 36
  • 99.42 (n)
  • 99.71 (a)
SH3GL3 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3GL3 36
  • 92.03 (n)
  • 94.81 (a)
SH3GL3 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3GL3 36
  • 93.07 (n)
  • 95.18 (a)
SH3GL3 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3gl3 36
  • 87.19 (n)
  • 86.71 (a)
Sh3gl3 16
Sh3gl3 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3GL3 37
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GL3 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3gl3 36
  • 85.79 (n)
  • 85.58 (a)
chicken
(Gallus gallus)
Aves SH3GL3 36
  • 78.67 (n)
  • 83.86 (a)
SH3GL3 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3GL3 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3gl3 36
  • 74.18 (n)
  • 78.9 (a)
zebrafish
(Danio rerio)
Actinopterygii sh3gl3a 36
  • 71.95 (n)
  • 78.39 (a)
sh3gl3b 37
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004766 36
  • 58.16 (n)
  • 56.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta endoA 36
  • 56.98 (n)
  • 55.23 (a)
endoA 37
  • 50 (a)
OneToMany
endoA 38
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-57 36
  • 54.52 (n)
  • 51.02 (a)
unc-57 37
  • 45 (a)
OneToMany
T04D1.3 38
  • 50 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mug137 36
  • 45.25 (n)
  • 31.01 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 51 (a)
OneToMany
Species with no ortholog for SH3GL3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 SH3GL3 Gene

ENSEMBL:
Gene Tree for SH3GL3 (if available)
TreeFam:
Gene Tree for SH3GL3 (if available)

Paralogs for SH3GL3 Gene

Paralogs for SH3GL3 Gene

Selected SIMAP similar genes for SH3GL3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SH3GL3: view

Variants for SH3GL3 Gene

Sequence variations from dbSNP and Humsavar for SH3GL3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs2304 -- 83,553,528(+) TTTTG(C/G)ATTGA intron-variant
rs876785 -- 83,610,658(+) GGCCC(A/G)AGGTC intron-variant
rs923968 -- 83,446,768(-) TCAAC(G/T)GCACT upstream-variant-2KB
rs934140 -- 83,556,060(-) TTCAA(A/G)TTCAA intron-variant
rs934141 -- 83,556,041(-) CACTC(C/T)CTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SH3GL3 Gene

Variant ID Type Subtype PubMed ID
nsv457216 CNV Loss 19166990
nsv1642 CNV Loss 18451855
nsv833072 CNV Gain 17160897
esv2749961 CNV Deletion 23290073
esv3630 CNV Deletion 18987735
esv2749962 CNV Deletion 23290073
esv2662956 CNV Deletion 23128226
esv5633 CNV Loss 19470904

Relevant External Links for SH3GL3 Gene

HapMap Linkage Disequilibrium report
SH3GL3
Human Gene Mutation Database (HGMD)
SH3GL3

Disorders for SH3GL3 Gene

(1) Novoseek inferred disease relationships for SH3GL3 Gene

Disease -log(P) Hits PubMed IDs
huntington disease 65.7 1

Relevant External Links for SH3GL3

Genetic Association Database (GAD)
SH3GL3
Human Genome Epidemiology (HuGE) Navigator
SH3GL3
genes like me logo Genes that share disorders with SH3GL3: view

No data available for UniProtKB/Swiss-Prot for SH3GL3 Gene

Publications for SH3GL3 Gene

  1. SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates. (PMID: 9809064) Sittler A. … Wanker E.E. (Mol. Cell 1998) 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. Interaction of SH3P13 and DYDC1 protein: a germ cell component that regulates acrosome biogenesis during spermiogenesis. (PMID: 19545932) Li S. … Wang L. (Eur. J. Cell Biol. 2009) 4 23
  4. Expression and protein-binding studies of the EEN gene family, new interacting partners for dynamin, synaptojanin and huntingtin proteins. (PMID: 10816441) So C.W. … Chan L.C. (Biochem. J. 2000) 3 23
  5. The SH3 domains of endophilin and amphiphysin bind to the proline- rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity. (PMID: 10542231) Cestra G. … Cesareni G. (J. Biol. Chem. 1999) 3 4

Products for SH3GL3 Gene

Sources for SH3GL3 Gene

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