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

Gene ID: 51100, updated on 12-Aug-2018

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; Vega:OTTHUMG00000010257
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

Genomic context

See SH3GLB1 in Genome Data Viewer
Location:
1p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (86704570..86748184)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (87170253..87213867)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cell division cycle associated 4 pseudogene 2 Neighboring gene uncharacterized LOC105378828 Neighboring gene chloride channel accessory 4 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Autophagy - animal, organism-specific biosystem (from KEGG)
    Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - animal, conserved biosystem (from KEGG)
    Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Nanoparticle triggered autophagic cell death, organism-specific biosystem (from WikiPathways)
    Nanoparticle triggered autophagic cell death, organism-specific biosystemProgrammed cell death: autophagic cell death. Autophagy (self-eating) is a survival mechanism deployed by cells to cope with conditions of nutrient deprivation. However, unrestrained autophagy can re...
  • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer

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
cadherin binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
autophagosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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_030018.1 RefSeqGene

    Range
    5001..48615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206651.1NP_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_001206652.1NP_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, OTTHUMP00000011913, ENST00000482504.1, OTTHUMT00000028288
    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_001206653.1NP_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_016009.4NP_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, OTTHUMP00000011912, ENST00000370558.8, OTTHUMT00000028287
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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

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