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

Gene ID: 51100, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See SH3GLB1 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene cell division cycle associated 4 pseudogene 2 Neighboring gene chloride channel accessory 4 Neighboring gene CLCA4 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:87075539-87075711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1278 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:87113290-87114489 Neighboring gene chloride channel accessory 3, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:87149909-87150556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1279 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:87170097-87170598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:87221223-87221723 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:87239295-87240494 Neighboring gene ribosomal protein L17 pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:87279745-87280336 Neighboring gene uncharacterized LOC105378831

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Somatic mutation of pro-cell death Bif-1 gene is rare in common human cancers. Kim MS, et al. APMIS, 2008 Oct. PMID 19132989
  2. Bax-interacting factor-1 inhibits cell proliferation and promotes apoptosis in prostate cancer cells. Xu L, et al. Oncol Rep, 2016 Dec. PMID 27748942
  3. Down-regulation of Bax-interacting factor 1 in human pancreatic ductal adenocarcinoma. Coppola D, et al. Pancreas, 2011 Apr. PMID 21283040, Free PMC Article
  4. Association of Endophilin B1 with Cytoplasmic Vesicles. Li J, et al. Biophys J, 2016 Aug 9. PMID 27508440, Free PMC Article
  5. Decreased expression of tumour suppressor Bax-interacting factor-1 (Bif-1), a Bax activator, in gastric carcinomas. Lee JW, et al. Pathology, 2006 Aug. PMID 16916719

See all (89) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0491

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding HDA 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 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 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

  1. NG_030018.2 RefSeqGene

    Range
    5007..48615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    86704576..86748184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_017001409.2 → XP_016856898.1  endophilin-B1 isoform X3

  4. XM_017001410.3 → XP_016856899.1  endophilin-B1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    86544605..86588211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336881.1 → XP_054192856.1  endophilin-B1 isoform X1

  2. XM_054336882.1 → XP_054192857.1  endophilin-B1 isoform X2

  3. XM_054336883.1 → XP_054192858.1  endophilin-B1 isoform X3

  4. XM_054336884.1 → XP_054192859.1  endophilin-B1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y371.1 GenPept UniProtKB/Swiss-Prot:Q9Y371

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