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

Gene ID: 20408, updated on 3-Apr-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 and protein C-terminus binding activity. Involved in 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, Apr 2022]
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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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. 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
  2. Synaptojanin and Endophilin Mediate Neck Formation during Ultrafast Endocytosis. Watanabe S, et al. Neuron, 2018 Jun 27. PMID 29953872, 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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

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
acts_upstream_of_or_within endocytosis IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in synaptic vesicle uncoating IGI
Inferred from Genetic Interaction
more info
 PubMed 
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 endosome 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
  
located_in membrane IEA
Inferred from Electronic Annotation
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
    Related
    ENSMUSP00000137621.2, ENSMUST00000179318.8

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

    Status: VALIDATED

    Source sequence(s)
    AC139213, AC175489, AC175660

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

    Status: VALIDATED

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

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

    Status: VALIDATED

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