SH3GLB1 SH3 domain containing GRB2 like, endophilin B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SH3GLB1provided by HGNC
Official Full Name: SH3 domain containing GRB2 like, endophilin B1provided by HGNC
Primary source: HGNC:HGNC:10833
See related: Ensembl:ENSG00000097033 MIM:609287; AllianceGenome:HGNC:10833
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Bif-1; CGI-61; PPP1R70; dJ612B15.2
Summary: This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in fat (RPKM 36.8), testis (RPKM 20.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (86704576..86748184)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (86544605..86588211)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (87170259..87213867)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Amphipathic Motifs Regulate N-BAR Protein Endophilin B1 Auto-inhibition and Drive Membrane Remodeling.
Title: Amphipathic Motifs Regulate N-BAR Protein Endophilin B1 Auto-inhibition and Drive Membrane Remodeling.
Loss of Concurrent Regulation of the Expression of BIF-1, BAX, and Beclin-1 in Primary and Metastatic Melanoma.
Title: Loss of Concurrent Regulation of the Expression of BIF-1, BAX, and Beclin-1 in Primary and Metastatic Melanoma.
BIF-1 inhibits both mitochondrial and glycolytic ATP production: its downregulation promotes melanoma growth.
Title: BIF-1 inhibits both mitochondrial and glycolytic ATP production: its downregulation promotes melanoma growth.
during cell stress, Bif-1 regulates mitochondrial inner membrane by interacting with prohibitin-2 to disrupt prohibitin complexes and induce OPA1 proteolysis and inactivation.
Title: Bif-1 Interacts with Prohibitin-2 to Regulate Mitochondrial Inner Membrane during Cell Stress and Apoptosis.
Here the authors report that Endophilin B2, similarly to Endophilin B1, plays an indispensable role in mitochondria sequestration and inner mitochondrial membrane (IMM) protein degradation during mitophagy.
Title: Endophilin B2 promotes inner mitochondrial membrane degradation by forming heterodimers with Endophilin B1 during mitophagy.
endophilin B1 participates in dynamin 2-dependent formation of a population of transport vesicles distinct from those generated by A-type endophilins
Title: Association of Endophilin B1 with Cytoplasmic Vesicles.
Bif-1 is involved in prostate cancer tumorigenesis and acts as a suppressor in prostate cancer progression.
Title: Bax-interacting factor-1 inhibits cell proliferation and promotes apoptosis in prostate cancer cells.
endophilin B1 mediated the biological function of EGFR in cancer cell proliferation through regulating the EGFR endocytic trafficking and downstream signaling.
Title: Endophilin B1 regulates EGFR endocytic degradation in prostate cancer cell.
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.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3283 (e-PCR)
- UniSTS:73729

SHGC-33734 (e-PCR)
- UniSTS:77082

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-75080 (e-PCR)
- UniSTS:44451

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in autophagic cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to glucose starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane fission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of membrane tubulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to vacuolar membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of macroautophagy	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein stability	HMP more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endophilin-B1

Names: Bax-interacting factor 1; SH3 domain-containing GRB2-like protein B1; SH3-containing protein SH3GLB1; SH3-domain GRB2 like endophilin B1; protein phosphatase 1, regulatory subunit 70; testicular tissue protein Li 172

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.

Genomic

NG_030018.2 RefSeqGene

Range

5007..48615

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001206651.2 → NP_001193580.1 endophilin-B1 isoform 2

See identical proteins and their annotated locations for NP_001193580.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional in-frame exon in the CDS, compared to variant 1. The resulting isoform (2) has an additional segment, compared to isoform 1.

Source sequence(s)

AF350371, AI936794, AK225864, AL049597, DB038227

Consensus CDS

CCDS72819.1

UniProtKB/TrEMBL

A0A087WW40

Related

ENSP00000479919.1, ENST00000616170.4

Conserved Domains (2) summary

cd07616
Location:24 → 281

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

cd11945
Location:334 → 394

SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
NM_001206652.2 → NP_001193581.1 endophilin-B1 isoform 3

See identical proteins and their annotated locations for NP_001193581.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has two additional in-frame exons in the CDS, compared to variant 1. The resulting isoform (3) has an additional segment, compared to isoform 1.

Source sequence(s)

AF263293, AF350371, AI936794, AL049597, DB038227

Consensus CDS

CCDS55612.1

UniProtKB/Swiss-Prot

Q9Y371

Related

ENSP00000418744.1, ENST00000482504.1

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_001206653.2 → NP_001193582.1 endophilin-B1 isoform 4

See identical proteins and their annotated locations for NP_001193582.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the 5' region, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AI936794, AK303710, AL049597, DB038227

Consensus CDS

CCDS55613.1

UniProtKB/Swiss-Prot

Q9Y371

Related

ENSP00000441355.1, ENST00000535010.5

Conserved Domains (2) summary

cd11945
Location:205 → 265

SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1

cl12013
Location:1 → 152

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001410824.1 → NP_001397753.1 endophilin-B1 isoform 5

Status: REVIEWED

Source sequence(s)

AL049597

Consensus CDS

CCDS90998.1

UniProtKB/TrEMBL

A0A994J549

Related

ENSP00000516134.1, ENST00000705519.1
NM_016009.5 → NP_057093.1 endophilin-B1 isoform 1

See identical proteins and their annotated locations for NP_057093.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is a predominant transcript and encodes isoform 1.

Source sequence(s)

AF350371, AI936794, AL049597, DB038227

Consensus CDS

CCDS710.1

UniProtKB/Swiss-Prot

B4E182, Q5H8U5, Q9H3Z0, Q9NR47, Q9NYA9, Q9Y371

UniProtKB/TrEMBL

A0A140VJU5

Related

ENSP00000473267.1, ENST00000370558.8

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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

86704576..86748184

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006710672.3 → XP_006710735.1 endophilin-B1 isoform X1

See identical proteins and their annotated locations for XP_006710735.1

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
XM_006710673.3 → XP_006710736.1 endophilin-B1 isoform X2

Conserved Domains (2) summary

cd11945
Location:242 → 302

SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1

cl12013
Location:1 → 189

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_017001409.2 → XP_016856898.1 endophilin-B1 isoform X3
XM_017001410.3 → XP_016856899.1 endophilin-B1 isoform X4