Sh3gl2 SH3-domain GRB2-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sh3gl2provided by MGI
Official Full Name: SH3-domain GRB2-like 2provided by MGI
Primary source: MGI:MGI:700009
See related: Ensembl:ENSMUSG00000028488 AllianceGenome:MGI:700009
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: EEN1; SH3PA; EEN-B1; Sh3d2a; 9530001L19Rik; B930049H17Rik
Summary: Enables identical protein binding activity. Involved in cellular response to brain-derived neurotrophic factor stimulus; dendrite extension; and postsynaptic actin cytoskeleton organization. Acts upstream of or within regulation of receptor internalization and synaptic vesicle endocytosis. Located in early endosome. Is active in several cellular components, including glutamatergic synapse; photoreceptor ribbon synapse; and presynaptic cytosol. Is expressed in several structures, including adrenal gland; central nervous system; dorsal aorta; peripheral nervous system; and testis. Orthologous to human SH3GL2 (SH3 domain containing GRB2 like 2, endophilin A1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 89.6), frontal lobe adult (RPKM 58.2) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C4; 4 40.23 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (85123663..85307617)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (85205456..85389380)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of EndophilinA1 in chronic unpredicted mild stress-induced depression model mice.
Title: The role of EndophilinA1 in chronic unpredicted mild stress-induced depression model mice.
endophilin A1 plays a critical role in epilepsy
Title: Endophilin A1 mediates seizure activity via regulation of AMPARs in a PTZ-kindled epileptic mouse model.
upregulation of EP expression in amyloid-beta peptide (Abeta)-rich environments leads to changes in both long-term potentiation and learning and memory of transgenic animals
Title: Overexpression of endophilin A1 exacerbates synaptic alterations in a mouse model of Alzheimer's disease.
Alix acts in concert with endophilin A to promote clathrin-independent endocytosis of cholera toxin and to regulate cell migration.
Title: ALG-2 interacting protein-X (Alix) is essential for clathrin-independent endocytosis and signaling.
Transcriptional analysis of endophilin-A mutant mice, complemented by proteomics, highlighted ataxia- and protein-homeostasis-related genes and revealed upregulation of the E3-ubiquitin ligase FBXO32/atrogin-1 and its transcription factor FOXO3A.
Title: Endophilin-A Deficiency Induces the Foxo3a-Fbxo32 Network in the Brain and Causes Dysregulation of Autophagy and the Ubiquitin-Proteasome System.
these results reveal a novel function of postsynaptic endophilin A1 in spine morphogenesis, stabilization and synaptic function through the regulation of p140Cap
Title: Endophilin A1 regulates dendritic spine morphogenesis and stability through interaction with p140Cap.
retrolinkin is a binding partner of endophilin A1 and that both proteins are required for BDNF-induced dendrite outgrowth
Title: Retrolinkin cooperates with endophilin A1 to mediate BDNF-TrkB early endocytic trafficking and signaling from early endosomes.
Data report that the parkin ubiquitin-like domain binds SH3 domains from endocytic BAR proteins such as endophilin-A with an affinity comparable to proline-rich domains from well-established SH3 partners.
Title: SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination.
Results sugest that reduced or defective OPHN1 signaling impairs synaptic vesicle cycling at hippocampal synapses.
Title: The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1.
Tip-to-tip interactions between the BAR domains in a trigonal crystal form of Snx9(PX-BAR) reminiscent of functionally important interactions described for F-BAR domains.
Title: Structure and plasticity of Endophilin and Sorting Nexin 9.

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Variation

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Alleles

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

Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U58886 (e-PCR)
- UniSTS:207634

AI120490 (e-PCR)
- UniSTS:165336

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to brain-derived neurotrophic factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid tube assembly	ISO Inferred from Sequence Orthology more info
involved_in membrane bending	ISO Inferred from Sequence Orthology more info
involved_in membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of blood-brain barrier permeability	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within synaptic vesicle endocytosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle uncoating	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle scission	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
located_in basal dendrite	ISO Inferred from Sequence Orthology 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 early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
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 membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endophilin-A1

Names: SH3 domain protein 2A; SH3 domain-containing GRB2-like protein 2; SH3p4; endophilin I; endophilin-1

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)

NM_001419017.1 → NP_001405946.1 endophilin-A1 isoform 2

Status: VALIDATED

Source sequence(s)

AL805970, AL806524
NM_019535.3 → NP_062408.2 endophilin-A1 isoform 1

See identical proteins and their annotated locations for NP_062408.2

Status: VALIDATED

Source sequence(s)

AL805970, AL806524

Consensus CDS

CCDS18303.1

UniProtKB/Swiss-Prot

Q3UTL7, Q3UY49, Q62420, Q8BXS6, Q8VBV1

Related

ENSMUSP00000030212.9, ENSMUST00000030212.15

Conserved Domains (2) summary

cd07613
Location:25 → 247

BAR_Endophilin_A1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A1

cd11803
Location:293 → 347

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

85123663..85307617

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537710.3 → XP_006537773.1 endophilin-A1 isoform X1

Conserved Domains (2) summary

cd07613
Location:1 → 212

BAR_Endophilin_A1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A1

cd11803
Location:258 → 312

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A