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

    Gene ID: 51100, updated on 3-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
    mouse all
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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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    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)

    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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