Sh3glb1 SH3-domain GRB2-like B1 (endophilin) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sh3glb1provided by MGI
Official Full Name: SH3-domain GRB2-like B1 (endophilin)provided by MGI
Primary source: MGI:MGI:1859730
See related: Ensembl:ENSMUSG00000037062 AllianceGenome:MGI:1859730
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: Bif-1; mKIAA0491
Summary: Enables fatty acid binding activity and lysophosphatidic acid acyltransferase activity. Involved in several processes, including positive regulation of autophagosome assembly; positive regulation of phosphatidylinositol 3-kinase activity; and regulation of intrinsic apoptotic signaling pathway by p53 class mediator. Acts upstream of or within 'de novo' posttranslational protein folding; phosphatidic acid biosynthetic process; and positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway. Located in membrane. Part of protein-containing complex. Is expressed in cerebellum; embryo; endolymphatic appendage; otocyst; and spleen. Orthologous to human SH3GLB1 (SH3 domain containing GRB2 like, endophilin B1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 28.5), CNS E18 (RPKM 9.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 H2; 3 69.0 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (144389426..144426186, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (144683665..144720408, complement)

Chromosome 3 - NC_000069.7 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?

Bif-1/Endophilin B1/SH3GLB1 regulates bone homeostasis.
Title: Bif-1/Endophilin B1/SH3GLB1 regulates bone homeostasis.
SH3GLB1 controls nicotinic acetylcholine receptors endocytic trafficking in a phosphorylation- and RAB5-dependent manner at steps upstream of autophagosome formation.
Title: Progress of endocytic CHRN to autophagic degradation is regulated by RAB5-GTPase and T145 phosphorylation of SH3GLB1 at mouse neuromuscular junctions in vivo.
These findings thus identify Bif-1 as a novel regulator of lipid homeostasis to prevent the pathogenesis of obesity and its associated metabolic complications.
Title: Bif-1 deficiency impairs lipid homeostasis and causes obesity accompanied by insulin resistance.
these data reveal an Irgm1-dependent mechanism that promotes the tumorigenesis of melanoma via dual regulation of apoptosis and Bif-1-dependent autophagy
Title: IFNg-induced Irgm1 promotes tumorigenesis of melanoma via dual regulation of apoptosis and Bif-1-dependent autophagy.
Our findings suggest that endophilin-B1 is a key mediator of a feed-forward mechanism of Alzheimer's disease pathogenesis
Title: Loss of endophilin-B1 exacerbates Alzheimer's disease pathology.
selective autophagy regulates the basal and atrophy-induced turnover of the pentameric transmembrane protein, CHRN, and that TRIM63, together with SH3GLB1 and SQSTM1 regulate this process.
Title: Role of autophagy, SQSTM1, SH3GLB1, and TRIM63 in the turnover of nicotinic acetylcholine receptors.
these data suggest that Bif-1 is essential for the maintenance of mitochondrial morphology and function in neurons
Title: Bax interacting factor-1 promotes survival and mitochondrial elongation in neurons.
Bif-1 haploinsufficiency attenuates mitophagy and results in the promotion of chromosomal instability, which enables tumor cells to efficiently bypass the oncogenic/metabolic pressures for apoptosis.
Title: Bif-1 haploinsufficiency promotes chromosomal instability and accelerates Myc-driven lymphomagenesis via suppression of mitophagy.
findings not only establish Cdk5 as a critical regulator of autophagy induction, but also reveal a role for Cdk5 and EndoB1 in the pathophysiology of Parkinson's disease through modulating autophagy
Title: Cdk5-mediated phosphorylation of endophilin B1 is required for induced autophagy in models of Parkinson's disease.
These findings suggest that Bif-1 acts as a critical regulator of Atg9 puncta formation presumably by mediating Golgi fission for autophagosome biogenesis during starvation.
Title: Bif-1 regulates Atg9 trafficking by mediating the fission of Golgi membranes during autophagy.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI314629 (e-PCR)
- UniSTS:178948

RH124907 (e-PCR)
- UniSTS:161729

AU015566 (e-PCR)
- UniSTS:207572

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fatty acid binding	IDA Inferred from Direct Assay 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 lysophosphatidic acid acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol 3-kinase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within 'de novo' post-translational protein folding	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in autophagic cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagic cell death	ISO Inferred from Sequence Orthology more info
involved_in cellular response to amino acid starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucose starvation	ISO Inferred from Sequence Orthology more info
involved_in membrane fission	ISO Inferred from Sequence Orthology more info
involved_in membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phospholipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of establishment of protein localization to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurotrophin TRK receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in protein localization to vacuolar membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to vacuolar membrane	ISO Inferred from Sequence Orthology more info
involved_in receptor catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytokinesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of early endosome to late endosome transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in autophagosome membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IC Inferred by Curator more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in mitochondrial envelope	ISO Inferred from Sequence Orthology more info	PubMed
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: endophilin-B1

Names: SH3 domain-containing GRB2-like protein B1

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_001282037.1 → NP_001268966.1 endophilin-B1 isoform 1

See identical proteins and their annotated locations for NP_001268966.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript.

Source sequence(s)

AC134404, AK052668, AK172959, AW050200

Consensus CDS

CCDS80043.1

UniProtKB/TrEMBL

A0A0G2JEC4

Related

ENSMUSP00000143312.2, ENSMUST00000198254.5

Conserved Domains (2) summary

cd07616
Location:24 → 273

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cd11945
Location:326 → 386

SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
NM_001282042.1 → NP_001268971.1 endophilin-B1 isoform 3

See identical proteins and their annotated locations for NP_001268971.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site and alternate exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC134404, AK158415

Consensus CDS

CCDS80042.1

UniProtKB/TrEMBL

A0A0G2JEC4

Related

ENSMUSP00000143433.2, ENSMUST00000199531.5

Conserved Domains (2) summary

cd07616
Location:24 → 252

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cl17036
Location:305 → 355

SH3; Src Homology 3 domain superfamily
NM_001379170.1 → NP_001366099.1 endophilin-B1 isoform 4

Status: VALIDATED

Source sequence(s)

AC134404

UniProtKB/TrEMBL

A0A0G2JEC4

Conserved Domains (2) summary

cd07616
Location:24 → 289

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cd11945
Location:342 → 402

SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
NM_001379171.1 → NP_001366100.1 endophilin-B1 isoform 5

Status: VALIDATED

Source sequence(s)

AC134404

UniProtKB/TrEMBL

A0A0G2JEC4

Conserved Domains (2) summary

cd07616
Location:24 → 273

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cl17036
Location:326 → 376

SH3; Src Homology 3 domain superfamily
NM_001379172.1 → NP_001366101.1 endophilin-B1 isoform 6

Status: VALIDATED

Source sequence(s)

AC134404

UniProtKB/TrEMBL

A0A0G2JEC4

Conserved Domains (2) summary

cd07616
Location:24 → 273

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cl17036
Location:326 → 351

SH3; Src Homology 3 domain superfamily
NM_001379173.1 → NP_001366102.1 endophilin-B1 isoform 7

Status: VALIDATED

Source sequence(s)

AC134404

UniProtKB/TrEMBL

A0A0G2JEC4

Conserved Domains (2) summary

cd07616
Location:24 → 252

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cl17036
Location:305 → 330

SH3; Src Homology 3 domain superfamily
NM_001379174.1 → NP_001366103.1 endophilin-B1 isoform 8

Status: VALIDATED

Source sequence(s)

AC134404

UniProtKB/TrEMBL

A0A0G2JEC4

Conserved Domains (2) summary

cd07616
Location:24 → 289

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cl17036
Location:342 → 392

SH3; Src Homology 3 domain superfamily
NM_019464.3 → NP_062337.1 endophilin-B1 isoform 2

See identical proteins and their annotated locations for NP_062337.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC134404, AK052668, AK172959, AW050200

Consensus CDS

CCDS17885.1

UniProtKB/Swiss-Prot

Q3TYR7, Q6A059, Q8CDS9, Q8VI52, Q9CT31, Q9JK48

UniProtKB/TrEMBL

A0A0G2JEC4

Related

ENSMUSP00000129800.2, ENSMUST00000163279.6

Conserved Domains (2) summary

cd07616
Location:24 → 252

BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1

cd11945
Location:305 → 365

SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1

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_000069.7 Reference GRCm39 C57BL/6J

Range

144389426..144426186 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501717.3 → XP_006501780.1 endophilin-B1 isoform X1

UniProtKB/TrEMBL

A0A0G2JEC4

Related

ENSMUSP00000142716.2, ENSMUST00000199854.5

Conserved Domains (2) summary

cl12013
Location:24 → 289

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl17036
Location:342 → 367

SH3; Src Homology 3 domain superfamily