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    Sh3gl1 SH3-domain GRB2-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 20405, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sh3gl1provided by MGI
    Official Full Name
    SH3-domain GRB2-like 1provided by MGI
    Primary source
    MGI:MGI:700010
    See related
    Ensembl:ENSMUSG00000003200 AllianceGenome:MGI:700010
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    EEN; SH3P8; Sh3d2b
    Summary
    Predicted to enable several functions, including SH3 domain binding activity; beta-1 adrenergic receptor binding activity; and enzyme binding activity. Predicted to be involved in modulation of excitatory postsynaptic potential; positive regulation of synaptic vesicle endocytosis; and synaptic vesicle uncoating. Predicted to be located in cytosol. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density, intracellular component. Is expressed in several structures, including central nervous system; chondrocranium; liver; spleen; and testis. Human ortholog(s) of this gene implicated in acute myeloid leukemia and high grade glioma. Orthologous to human SH3GL1 (SH3 domain containing GRB2 like 1, endophilin A2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 67.4), limb E14.5 (RPKM 56.0) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Sh3gl1 in Genome Data Viewer
    Location:
    17 D; 17 29.11 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (56323750..56343659, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (56016750..56036659, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene signal transducing adaptor family member 2 Neighboring gene STARR-positive B cell enhancer ABC_E2497 Neighboring gene MPN domain containing Neighboring gene bolA-like 3 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:56160654-56160880 Neighboring gene STARR-positive B cell enhancer ABC_E3206 Neighboring gene STARR-positive B cell enhancer ABC_E9960 Neighboring gene chromatin assembly factor 1, subunit A Neighboring gene UBX domain protein 6 Neighboring gene STARR-positive B cell enhancer ABC_E100 Neighboring gene HDGF like 2 Neighboring gene nuclear encoded tRNA glutamic acid 4 (anticodon CTC)

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-1 adrenergic receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of excitatory postsynaptic potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in synaptic vesicle uncoating IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in Schaffer collateral - CA1 synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in hippocampal mossy fiber to CA3 synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in hippocampal mossy fiber to CA3 synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic density, intracellular component ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in presynapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in synapse ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    endophilin-A2
    Names
    SH3 domain protein 2B
    SH3 domain-containing GRB2-like protein 1
    endophilin II
    endophilin-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001252471.1NP_001239400.1  endophilin-A2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC145345, CD774556, CT009719
      Consensus CDS
      CCDS89121.1
      UniProtKB/TrEMBL
      A0A3B2W7K0
      Related
      ENSMUSP00000156570.2, ENSMUST00000233803.2
      Conserved Domains (1) summary
      cd07592
      Location:25244
      BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A
    2. NM_001357649.1NP_001344578.1  endophilin-A2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      CD774556, CT009719
      UniProtKB/TrEMBL
      Q3TJB4, Q3U3C4
      Conserved Domains (2) summary
      cd07592
      Location:1212
      BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A
      cd11803
      Location:274328
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
    3. NM_013664.3NP_038692.1  endophilin-A2 isoform 1

      See identical proteins and their annotated locations for NP_038692.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI846378, AK162715, CT009719
      Consensus CDS
      CCDS28891.1
      UniProtKB/Swiss-Prot
      Q62419
      UniProtKB/TrEMBL
      Q3TJB4, Q3TRJ7, Q3U3C4
      Related
      ENSMUSP00000003268.10, ENSMUST00000003268.11
      Conserved Domains (2) summary
      cd07592
      Location:25247
      BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A
      cd11803
      Location:309363
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      56323750..56343659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)