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

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. Involved in synaptic vesicle uncoating. Predicted to be located in cytosol and membrane. Predicted to be active in cytoplasm; glutamatergic synapse; and presynapse. 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, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 67.4), limb E14.5 (RPKM 56.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Endophilin A2-mediated alleviation of endoplasmic reticulum stress-induced cardiac injury involves the suppression of ERO1alpha/IP3R signaling pathway.
Title: Endophilin A2-mediated alleviation of endoplasmic reticulum stress-induced cardiac injury involves the suppression of ERO1α/IP(3)R signaling pathway.
The variations of endophilin A2-FoxO3a-autophagy signal in angiotensin II-induced dopaminergic neuron injury mouse model and by biochanin A.
Title: The variations of endophilin A2-FoxO3a-autophagy signal in angiotensin II-induced dopaminergic neuron injury mouse model and by biochanin A.
Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation.
Title: Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation.
Endophilin-A2 is a critical mediator of endothelial cell migration and sprouting angiogenesis. ENDOA2 deficiency reduces VEGFR2 internalization and inhibits downstream activation of the signaling effector PAK but not ERK, thereby affecting front-rear polarity and migration but not proliferation or survival.
Title: Endophilin-A2 dependent VEGFR2 endocytosis promotes sprouting angiogenesis.
This study provides a new mechanism by which endophilin A2 regulates ClC-3 channel activity, and sheds light on how ClC-3 is transported to cell membranes to play its critical role as a chloride channel in VSMCs function
Title: Endophilin A2 Influences Volume-Regulated Chloride Current by Mediating ClC-3 Trafficking in Vascular Smooth Muscle Cells.
Mutation in the FAK gene disrupted the function of FAK scaffolding to mediate endophilin A2 phosphorylation at Tyr-315 by Src, leading to the decreased surface expression of MT1-MMP.
Title: Function of focal adhesion kinase scaffolding to mediate endophilin A2 phosphorylation promotes epithelial-mesenchymal transition and mammary cancer stem cell activities in vivo.
these results demonstrate that MNSFbeta/endophilin II inhibits the signal pathway upstream of IKK activation, but not downstream of TLR2 signaling.
Title: Ubiquitin-like protein MNSFβ/endophilin II complex regulates Dectin-1-mediated phagocytosis and inflammatory responses in macrophages.
Further analysis based on antibody staining of central and peripheral nerves revealed beta-adducin, septin 2, and sh3p8 as putative paranodal proteins.
Title: Proteomic analysis of optic nerve lipid rafts reveals new paranodal proteins.
post-translational modification of endophilin II by MNSFbeta might be implicated in phagocytosis by macrophages.
Title: The ubiquitin-like protein monoclonal nonspecific suppressor factor beta conjugates to endophilin II and regulates phagocytosis.
Mll(Een/+) chimeric mice developed leukaemia displaying enlarged livers, spleens, thymuses and lymph nodes owing to infiltration of Mll(Een/+)-expressing leukemic cells
Title: The Mll-Een knockin fusion gene enhances proliferation of myeloid progenitors derived from mouse embryonic stem cells and causes myeloid leukaemia in chimeric mice.

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Variation

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Alleles

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

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C77078 (e-PCR)
- UniSTS:163592

NoName (e-PCR)
- UniSTS:224994

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	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
acts_upstream_of_or_within 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
involved_in synaptic vesicle uncoating	IMP Inferred from Mutant Phenotype more info	PubMed

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	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
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 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 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

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Preferred Names: endophilin-A2

Names: SH3 domain protein 2B; SH3 domain-containing GRB2-like protein 1; endophilin II; endophilin-2

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_001252471.1 → NP_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:25 → 244

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A
NM_001357649.1 → NP_001344578.1 endophilin-A2 isoform 3

Status: VALIDATED

Source sequence(s)

CD774556, CT009719

UniProtKB/TrEMBL

Q3TJB4, Q3U3C4

Conserved Domains (2) summary

cd07592
Location:1 → 212

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A

cd11803
Location:274 → 328

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
NM_013664.3 → NP_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:25 → 247

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A

cd11803
Location:309 → 363

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A