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

Gene ID: 51100, updated on 28-Nov-2021

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
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

See SH3GLB1 in Genome Data Viewer
Location:
1p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (86704570..86748184)
105.20201022 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 chloride channel accessory 3, pseudogene Neighboring gene ribosomal protein L17 pseudogene 5 Neighboring gene uncharacterized LOC105378831

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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

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_001206651.2NP_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/Swiss-Prot
    Q9Y371
    UniProtKB/TrEMBL
    A0A087WW40
    Related
    ENSP00000479919.1, ENST00000616170.4
    Conserved Domains (2) summary
    cd07616
    Location:24281
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:334394
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
  2. NM_001206652.2NP_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:24273
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:326386
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
  3. NM_001206653.2NP_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:205265
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
    cl12013
    Location:1152
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. NM_016009.5NP_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
    Q9Y371
    UniProtKB/TrEMBL
    A0A140VJU5
    Related
    ENSP00000473267.1, ENST00000370558.8
    Conserved Domains (2) summary
    cd07616
    Location:24252
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:305365
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    86704570..86748184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710672.2XP_006710735.1  endophilin-B1 isoform X1

    See identical proteins and their annotated locations for XP_006710735.1

    Conserved Domains (2) summary
    cd07616
    Location:24289
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:342402
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
  2. XM_011541538.1XP_011539840.1  endophilin-B1 isoform X2

    Conserved Domains (2) summary
    cd07616
    Location:24265
    BAR_Endophilin_B1; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-B1
    cd11945
    Location:318378
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
  3. XM_017001409.1XP_016856898.1  endophilin-B1 isoform X5

  4. XM_017001410.2XP_016856899.1  endophilin-B1 isoform X6

  5. XM_006710673.2XP_006710736.1  endophilin-B1 isoform X3

    Conserved Domains (2) summary
    cd11945
    Location:242302
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
    cl12013
    Location:1189
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  6. XM_017001408.1XP_016856897.1  endophilin-B1 isoform X4

    Conserved Domains (2) summary
    cd11945
    Location:226286
    SH3_Endophilin_B1; Src homology 3 domain of Endophilin-B1
    cl12013
    Location:1173
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
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