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    Sh3gl3 SH3-domain GRB2-like 3 [ Mus musculus (house mouse) ]

    Gene ID: 20408, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sh3gl3provided by MGI
    Official Full Name
    SH3-domain GRB2-like 3provided by MGI
    Primary source
    MGI:MGI:700011
    See related
    Ensembl:ENSMUSG00000030638 AllianceGenome:MGI:700011
    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-B2; SH3P13; Sh3d2c; Sh3d2c2
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in negative regulation of clathrin-dependent endocytosis; positive regulation of neuron differentiation; and synaptic vesicle uncoating. Located in cytoplasm. Is expressed in several structures, including adrenal gland; central nervous system; dorsal aorta; peripheral nervous system; and testis. Orthologous to human SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 23.9), CNS E18 (RPKM 14.9) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sh3gl3 in Genome Data Viewer
    Location:
    7 D3; 7 47.15 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (81824581..81956618)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (82173808..82307420)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 20744 Neighboring gene predicted gene, 32850 Neighboring gene STARR-seq mESC enhancer starr_19380 Neighboring gene STARR-seq mESC enhancer starr_19381 Neighboring gene STARR-seq mESC enhancer starr_19382 Neighboring gene STARR-seq mESC enhancer starr_19384 Neighboring gene predicted gene, 32903 Neighboring gene predicted gene, 51492 Neighboring gene ADAMTS-like 3 Neighboring gene stabilizer of axonemal microtubules 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Synaptojanin and Endophilin Mediate Neck Formation during Ultrafast Endocytosis. Watanabe S, et al. Neuron, 2018 Jun 27. PMID 29953872, Free PMC Article
    2. Endophilin-A coordinates priming and fusion of neurosecretory vesicles via intersectin. Gowrisankaran S, et al. Nat Commun, 2020 Mar 9. PMID 32152276, Free PMC Article
    3. Upregulation of Parkin in endophilin mutant mice. Cao M, et al. J Neurosci, 2014 Dec 3. PMID 25471590, Free PMC Article
    4. Use of intercross outbred mice and single nucleotide polymorphisms to map skin cancer modifier loci. Peissel B, et al. Mamm Genome, 2001 Apr. PMID 11309660
    5. Role of dynamin, synaptojanin, and endophilin in podocyte foot processes. Soda K, et al. J Clin Invest, 2012 Dec. PMID 23187129, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockout of all three mouse endophilins results in the accumulation of clathrin-coated vesicles, but not of clathrin-coated pits, at synapse.
      Title: Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission.
    2. Endophilin 3 interacts with Mta1, the site of interaction is suggested to be the SH-3-binding domain of Mta1 and SH-3 domain of endophilin 3.
      Title: Direct interaction between metastasis-associated protein 1 and endophilin 3.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118269

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of clathrin-dependent endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of clathrin-dependent 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
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome 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 postsynaptic density, intracellular component ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in postsynaptic endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in presynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynapse ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    endophilin-A3
    Names
    SH3 domain protein 2 C2
    SH3 domain protein 2C
    SH3 domain-containing GRB2-like protein 3
    endophilin III
    endophilin-3

    NCBI Reference Sequences (RefSeq)

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    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_001277954.3 → NP_001264883.1  endophilin-A3 isoform 2

      See identical proteins and their annotated locations for NP_001264883.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at an internal exon, compared to variant 1, and initiates translation at a downstream in-frame start codon. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2, 6, and 7 all encode the same isoform (2).
      Source sequence(s)
      AC139213, AC175489, AC175660
      UniProtKB/TrEMBL
      J3QQ44, Q497N4
      Conserved Domains (2) summary
      cd11803
      Location:219 → 273
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
      cl12013
      Location:1 → 178
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_001277955.3 → NP_001264884.1  endophilin-A3 isoform 3

      See identical proteins and their annotated locations for NP_001264884.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the coding region, compared to variant 1, and initiates translation at a downstream in-frame start codon. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC139213, AC175489, AC175660
      UniProtKB/TrEMBL
      Q9CZV7
      Conserved Domains (2) summary
      cd11803
      Location:155 → 209
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
      cl12013
      Location:11 → 114
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. NM_001417256.1 → NP_001404185.1  endophilin-A3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC139213, AC175489, AC175660
      UniProtKB/Swiss-Prot
      Q62421, Q8R0B7
      Related
      ENSMUSP00000137621.2, ENSMUST00000179318.8

    4. NM_001417257.1 → NP_001404186.1  endophilin-A3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC139213, AC175489, AC175660
      UniProtKB/TrEMBL
      J3QQ44

    5. NM_001417258.1 → NP_001404187.1  endophilin-A3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC139213, AC175489, AC175660
      UniProtKB/TrEMBL
      J3QQ44, Q497N4

    6. NM_001417259.1 → NP_001404188.1  endophilin-A3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC139213, AC175489, AC175660
      UniProtKB/TrEMBL
      J3QQ44, Q497N4

    7. NM_001417260.1 → NP_001404189.1  endophilin-A3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC139213, AC175489, AC175660

    8. NM_017400.8 → NP_059096.3  endophilin-A3 isoform 1

      See identical proteins and their annotated locations for NP_059096.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC139213, AC175489, AC175660
      Consensus CDS
      CCDS90263.1
      UniProtKB/Swiss-Prot
      Q62421, Q8R0B7
      UniProtKB/TrEMBL
      A0A0R4J0B8
      Related
      ENSMUSP00000032874.8, ENSMUST00000032874.14
      Conserved Domains (2) summary
      cd07615
      Location:25 → 247
      BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
      cd11803
      Location:288 → 342
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      81824581..81956618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242266.2 → XP_030098126.1  endophilin-A3 isoform X4

      UniProtKB/TrEMBL
      J3QQ44, Q497N4
      Conserved Domains (2) summary
      cd11803
      Location:219 → 273
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
      cl12013
      Location:1 → 178
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. XM_036152824.1 → XP_036008717.1  endophilin-A3 isoform X4

      UniProtKB/TrEMBL
      J3QQ44, Q497N4
      Conserved Domains (2) summary
      cd11803
      Location:219 → 273
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
      cl12013
      Location:1 → 178
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_030242263.1 → XP_030098123.1  endophilin-A3 isoform X2

      UniProtKB/Swiss-Prot
      Q62421, Q8R0B7
      Conserved Domains (2) summary
      cd07615
      Location:39 → 261
      BAR_Endophilin_A3; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A3
      cd11803
      Location:302 → 356
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

    4. XM_036152823.1 → XP_036008716.1  endophilin-A3 isoform X4

      UniProtKB/TrEMBL
      J3QQ44, Q497N4
      Conserved Domains (2) summary
      cd11803
      Location:219 → 273
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
      cl12013
      Location:1 → 178
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    5. XM_036152825.1 → XP_036008718.1  endophilin-A3 isoform X4

      UniProtKB/TrEMBL
      J3QQ44, Q497N4
      Conserved Domains (2) summary
      cd11803
      Location:219 → 273
      SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
      cl12013
      Location:1 → 178
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q62421.1 GenPept UniProtKB/Swiss-Prot:Q62421

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