Sh3gl2 SH3 domain containing GRB2 like 2, endophilin A1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Sh3gl2provided by RGD
Official Full Name: SH3 domain containing GRB2 like 2, endophilin A1provided by RGD
Primary source: RGD:620276
See related: EnsemblRapid:ENSRNOG00000006761 AllianceGenome:RGD:620276
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Sh3p4; Sh3d2a
Summary: Enables several functions, including identical protein binding activity; protein C-terminus binding activity; and protein kinase binding activity. Involved in several processes, including lipid tube assembly; positive regulation of membrane tubulation; and vesicle scission. Located in several cellular components, including basal dendrite; neuronal cell body; and perinuclear region of cytoplasm. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and synaptic vesicle membrane. Biomarker of visual epilepsy. Orthologous to human SH3GL2 (SH3 domain containing GRB2 like 2, endophilin A1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Brain (RPKM 162.3), Kidney (RPKM 24.8) and 4 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 5q31

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (104699270..104874724)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (99653189..99827500)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (103479767..103654507)

Chromosome 5 - NC_086023.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A potential role for endophilin 1 in Abetainduced postsynaptic dysfunction has been identified, indicating a possible direction for the prevention of postsynaptic dysfunction in cognitive impairment and suggesting that endophilin may be a potential target for the clinical treatment of Alzheimer's disease.
Title: Endophilin 1 knockdown prevents synaptic dysfunction induced by oligomeric amyloid β.
Together, these observations suggest that while endophilin helps shape endocytic tubules and recruit dynamin to endocytic sites, it can also block membrane fission when present in excess by inhibiting inter-dynamin interactions.
Title: Structural inhibition of dynamin-mediated membrane fission by endophilin.
These data suggested a role of EndoII in protecting BASMCs apoptosis induced by H2O2, possibly by inhibiting the addressing of Bax to mitochondria. Targeting on EndoII may be a new strategy to treat apoptosis-associated diseases.
Title: Endophilin A2 protects H2O2-induced apoptosis by blockade of Bax translocation in rat basilar artery smooth muscle cells.
We find that the phosphomimetic mutation S75D favors vesicle formation by inhibiting this conformational switch, acting to regulate endophilin A1-mediated curvature.
Title: Endophilin A1 induces different membrane shapes using a conformational switch that is regulated by phosphorylation.
a coarse-grained model was used to study various membrane remodeling scenarios induced by endophilin N-terminal helix and Bin/amphiphysin/Rvs domains.
Title: Understanding the role of amphipathic helices in N-BAR domain driven membrane remodeling.
Kinetics of endophilin N-BAR domain dimerization and membrane interactions.
Title: Kinetics of endophilin N-BAR domain dimerization and membrane interactions.
Endophilin I and endophilin II interact with N-type Ca2+ channel carboxyl-terminal fragments in clathrin-mediated endocytosis.
Title: Endophilin isoforms have distinct characteristics in interactions with N-type Ca2+ channels and dynamin I.
measurements of curvature sorting and curvature generation of the endophilin A1 N-BAR domain on tubular membranes pulled from giant unilamellar vesicles
Title: Nonlinear sorting, curvature generation, and crowding of endophilin N-BAR on tubular membranes.
Study determined the structure of residues 63-86, a region that is disordered in the crystal structure of endophilin A1.
Title: Roles of amphipathic helices and the bin/amphiphysin/rvs (BAR) domain of endophilin in membrane curvature generation.
the adaptability of endophilin-lipid interactions underlies dynamic changes of endocytic membranes
Title: Multiple modes of endophilin-mediated conversion of lipid vesicles into coated tubes: implications for synaptic endocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU047584 (e-PCR)
- UniSTS:110364

G47071 (e-PCR)
- UniSTS:107861

d5rat151 (e-PCR)
- UniSTS:122099

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
located_in basal dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
is_active_in hippocampal mossy fiber to CA3 synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor ribbon synapse	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic cytosol	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endophilin-A1

Names: SH3 domain protein 2A; SH3 domain-containing GRB2-like 2; SH3 domain-containing GRB2-like protein 2; SH3-domain GRB2-like 2; 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_053935.1 → NP_446387.1 endophilin-A1

See identical proteins and their annotated locations for NP_446387.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000005

UniProtKB/Swiss-Prot

O35179

UniProtKB/TrEMBL

A0A8L2Q412, A6J857

Related

ENSRNOP00000098240.2, ENSRNOT00000120604.2

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_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086023.1 Reference GRCr8

Range

104699270..104874724

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063287074.1 → XP_063143144.1 endophilin-A1 isoform X2

UniProtKB/TrEMBL

A0A8L2Q412

Related

ENSRNOP00000098241.2, ENSRNOT00000120605.2
XM_006238359.5 → XP_006238421.1 endophilin-A1 isoform X1

UniProtKB/TrEMBL

A0A8I6GFM2, A0A8L2Q412

Related

ENSRNOP00000087931.1, ENSRNOT00000110787.3

Conserved Domains (2) summary

cd07613
Location:17 → 239

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

cd11803
Location:285 → 339

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A