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Aliases for SH3GLB1 Gene

Aliases for SH3GLB1 Gene

  • SH3 Domain Containing GRB2 Like, Endophilin B1 2 3
  • Protein Phosphatase 1, Regulatory Subunit 70 2 3
  • SH3 Domain-Containing GRB2-Like Protein B1 3 4
  • Bax-Interacting Factor 1 3 4
  • Bif-1 3 4
  • SH3 Domain Containing GRB2 Like Endophilin B1 5
  • SH3-Domain, GRB2-Like, Endophilin B1 2
  • SH3-Domain GRB2 Like Endophilin B1 3
  • Testicular Tissue Protein Li 172 3
  • SH3-Containing Protein SH3GLB1 3
  • Endophilin-B1 3
  • DJ612B15.2 3
  • KIAA0491 4
  • PPP1R70 3
  • CGI-61 3

External Ids for SH3GLB1 Gene

Previous GeneCards Identifiers for SH3GLB1 Gene

  • GC01P087672
  • GC01P086339
  • GC01P086462
  • GC01P086593
  • GC01P086882
  • GC01P087170
  • GC01P085280

Summaries for SH3GLB1 Gene

Entrez Gene Summary for SH3GLB1 Gene

  • 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]

GeneCards Summary for SH3GLB1 Gene

SH3GLB1 (SH3 Domain Containing GRB2 Like, Endophilin B1) is a Protein Coding gene. Among its related pathways are Apoptosis and Autophagy and Autophagy Pathway. GO annotations related to this gene include protein homodimerization activity and lipid binding. An important paralog of this gene is SH3GLB2.

UniProtKB/Swiss-Prot for SH3GLB1 Gene

  • May be required for normal outer mitochondrial membrane dynamics (PubMed:15452144). Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion (PubMed:11604418). Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation (PubMed:16227588). Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2) (PubMed:17891140). Associated with PI3KC3-C2 during autophagy may regulate the trafficking of ATG9A from the Golgi complex to the peripheral cytoplasm for the formation of autophagosomes by inducing Golgi membrane tubulation and fragmentation (PubMed:21068542). Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123). Isoform 2 acts antiapoptotic in neuronal cells; involved in maintenance of mitochondrial morphology and promotes neuronal viability (By similarity).

Gene Wiki entry for SH3GLB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3GLB1 Gene

Genomics for SH3GLB1 Gene

Regulatory Elements for SH3GLB1 Gene

Enhancers for SH3GLB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G086772 2 FANTOM5 Ensembl ENCODE dbSUPER 8 +70.1 70053 3.6 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 ZNF766 ZNF302 FOS SP3 REST LOC105378828 SH3GLB1 GC01P086761 RPL17P5
GH01G086787 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.3 +84.3 84266 2.3 HDAC1 ELF3 PKNOX1 FOXA2 ATF1 SIN3A RARA GATA2 ZSCAN5C ZNF350 SH3GLB1 LOC105378828 RPL17P5 LOC105378831
GH01G086703 1.7 FANTOM5 ENCODE dbSUPER 7.8 +0.5 529 3.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 LOC105378828 SH3GLB1 GC01P086705
GH01G086792 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +89.2 89175 3.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 ZNF766 ZNF263 LOC105378828 SH3GLB1 RPL17P5 LOC105378831
GH01G086709 0.8 Ensembl dbSUPER 5.6 +4.6 4550 0.2 ARID1B MAFF ZNF316 MAFG NFE2 EMSY MAFK SH3GLB1 GC01P086705 GC01P086761
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SH3GLB1 on UCSC Golden Path with GeneCards custom track

Promoters for SH3GLB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000009343 730 3401 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1

Genomic Location for SH3GLB1 Gene

Chromosome:
1
Start:
86,704,570 bp from pter
End:
86,748,184 bp from pter
Size:
43,615 bases
Orientation:
Plus strand

Genomic View for SH3GLB1 Gene

Genes around SH3GLB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3GLB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3GLB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GLB1 Gene

Proteins for SH3GLB1 Gene

  • Protein details for SH3GLB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y371-SHLB1_HUMAN
    Recommended name:
    Endophilin-B1
    Protein Accession:
    Q9Y371
    Secondary Accessions:
    • B4E182
    • Q5H8U5
    • Q9H3Z0
    • Q9NR47
    • Q9NYA9

    Protein attributes for SH3GLB1 Gene

    Size:
    365 amino acids
    Molecular mass:
    40796 Da
    Quaternary structure:
    • Homodimer, and heterodimer with SH3GLB2 (PubMed:11161816). Binds BAX; induction of apoptosis augments BAX binding (PubMed:11161816, PubMed:11259440). Binds DNM1, HTT, AMPH, BIN1 and ARFGAP1 (By similarity). Interacts with UVRAG; UVRAG bridges the interaction to BECN1 indicative for an association with the PI3K complex II (PI3KC3-C2) (PubMed:17891140, PubMed:20643123).
    Miscellaneous:
    • HeLa cells lacking SH3GLB1 show dissociation of outer and inner mitochondrial membrane as well as abnormal mitochondrial morphology. Cells overexpressing SH3GLB1 lacking an N-terminal amphipathic helix show a similar phenotype.
    • SH3GLB1 binds liposomes and induces formation of tubules from liposomes. SH3GLB1 lacking the N-terminal amphipathic helix fails to induce liposome tubulation.
    SequenceCaution:
    • Sequence=AAF81225.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD88797.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SH3GLB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3GLB1 Gene

Post-translational modifications for SH3GLB1 Gene

  • Phosphorylated at Thr-145 by CDK5; this phosphorylation is required for autophagy induction in starved neurons and facilitates homodimerization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for SH3GLB1 (Endophilin B1/Bif-1)
  • Cell Signaling Technology (CST) Antibodies for SH3GLB1 (SH3GLB1)
  • Abcam antibodies for SH3GLB1

No data available for DME Specific Peptides for SH3GLB1 Gene

Domains & Families for SH3GLB1 Gene

Protein Domains for SH3GLB1 Gene

Suggested Antigen Peptide Sequences for SH3GLB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y371

UniProtKB/Swiss-Prot:

SHLB1_HUMAN :
  • An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.
  • Belongs to the endophilin family.
Domain:
  • An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes.
  • The SH3 domain is required and sufficient for the interaction with UVRAG.
Family:
  • Belongs to the endophilin family.
genes like me logo Genes that share domains with SH3GLB1: view

Function for SH3GLB1 Gene

Molecular function for SH3GLB1 Gene

UniProtKB/Swiss-Prot Function:
May be required for normal outer mitochondrial membrane dynamics (PubMed:15452144). Required for coatomer-mediated retrograde transport in certain cells (By similarity). May recruit other proteins to membranes with high curvature. May promote membrane fusion (PubMed:11604418). Involved in activation of caspase-dependent apoptosis by promoting BAX/BAK1 activation (PubMed:16227588). Isoform 1 acts proapoptotic in fibroblasts (By similarity). Involved in caspase-independent apoptosis during nutrition starvation and involved in the regulation of autophagy. Activates lipid kinase activity of PIK3C3 during autophagy probably by associating with the PI3K complex II (PI3KC3-C2) (PubMed:17891140). Associated with PI3KC3-C2 during autophagy may regulate the trafficking of ATG9A from the Golgi complex to the peripheral cytoplasm for the formation of autophagosomes by inducing Golgi membrane tubulation and fragmentation (PubMed:21068542). Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123). Isoform 2 acts antiapoptotic in neuronal cells; involved in maintenance of mitochondrial morphology and promotes neuronal viability (By similarity).

Gene Ontology (GO) - Molecular Function for SH3GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005504 fatty acid binding IEA --
GO:0005515 protein binding IPI 11161816
GO:0008289 lipid binding IEA --
GO:0042171 lysophosphatidic acid acyltransferase activity IEA --
GO:0042802 identical protein binding IPI 20562859
genes like me logo Genes that share ontologies with SH3GLB1: view

Phenotypes for SH3GLB1 Gene

genes like me logo Genes that share phenotypes with SH3GLB1: view

Animal Models for SH3GLB1 Gene

MGI Knock Outs for SH3GLB1:

Animal Model Products

CRISPR Products

miRNA for SH3GLB1 Gene

miRTarBase miRNAs that target SH3GLB1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH3GLB1 Gene

Localization for SH3GLB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3GLB1 Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Mitochondrion outer membrane; Peripheral membrane protein. Cytoplasmic vesicle, autophagosome membrane. Midbody. Note=Association with the Golgi apparatus depends on the cell type (By similarity). Following starvation colocalizes with ATG5 and LC3 autophagy-related protein(s)on autophagosomal membranes (PubMed:17891140). {ECO:0000250, ECO:0000269 PubMed:17891140}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3GLB1 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
golgi apparatus 3
nucleus 2
endosome 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SH3GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0000421 autophagosome membrane IDA,IEA 17891140
GO:0005737 cytoplasm IDA 11161816
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with SH3GLB1: view

Pathways & Interactions for SH3GLB1 Gene

genes like me logo Genes that share pathways with SH3GLB1: view

Pathways by source for SH3GLB1 Gene

1 Cell Signaling Technology pathway for SH3GLB1 Gene
2 KEGG pathways for SH3GLB1 Gene
1 R&D Systems pathway for SH3GLB1 Gene

SIGNOR curated interactions for SH3GLB1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SH3GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006654 phosphatidic acid biosynthetic process IEA --
GO:0006914 autophagy IEA --
GO:0006915 apoptotic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0010508 positive regulation of autophagy IMP 17891140
genes like me logo Genes that share ontologies with SH3GLB1: view

Drugs & Compounds for SH3GLB1 Gene

No Compound Related Data Available

Transcripts for SH3GLB1 Gene

Unigene Clusters for SH3GLB1 Gene

SH3-domain GRB2-like endophilin B1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3GLB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for SH3GLB1 Gene

GeneLoc Exon Structure for
SH3GLB1
ECgene alternative splicing isoforms for
SH3GLB1

Expression for SH3GLB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH3GLB1 Gene

mRNA differential expression in normal tissues according to GTEx for SH3GLB1 Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for SH3GLB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH3GLB1 Gene



Protein tissue co-expression partners for SH3GLB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH3GLB1 Gene:

SH3GLB1

SOURCE GeneReport for Unigene cluster for SH3GLB1 Gene:

Hs.136309

mRNA Expression by UniProt/SwissProt for SH3GLB1 Gene:

Q9Y371-SHLB1_HUMAN
Tissue specificity: Highly expressed in heart, skeletal muscle, kidney and placenta. Detected at lower levels in brain, colon, thymus, spleen, liver, small intestine, lung and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for SH3GLB1 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Muscle(4.4)
  • Kidney(4.3)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with SH3GLB1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3GLB1 Gene

Orthologs for SH3GLB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3GLB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3GLB1 34 35
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia SH3GLB1 34 35
  • 94.06 (n)
dog
(Canis familiaris)
Mammalia SH3GLB1 34 35
  • 93.87 (n)
mouse
(Mus musculus)
Mammalia Sh3glb1 34 16 35
  • 90.85 (n)
rat
(Rattus norvegicus)
Mammalia Sh3glb1 34
  • 89.32 (n)
oppossum
(Monodelphis domestica)
Mammalia SH3GLB1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GLB1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3GLB1 34 35
  • 82.64 (n)
lizard
(Anolis carolinensis)
Reptilia SH3GLB1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3glb1 34
  • 74.7 (n)
Str.16229 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25826 34
zebrafish
(Danio rerio)
Actinopterygii sh3glb1b 35
  • 74 (a)
OneToMany
sh3glb1a 34 35
  • 70.29 (n)
wufa08f03 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010376 34
  • 50.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta endoB 36 34 35
  • 50.54 (n)
worm
(Caenorhabditis elegans)
Secernentea F35A5.8b 36
  • 51 (a)
erp-1 35
  • 45 (a)
OneToMany
F35A5.8a 36
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7943 34
Species where no ortholog for SH3GLB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3GLB1 Gene

ENSEMBL:
Gene Tree for SH3GLB1 (if available)
TreeFam:
Gene Tree for SH3GLB1 (if available)

Paralogs for SH3GLB1 Gene

Paralogs for SH3GLB1 Gene

(1) SIMAP similar genes for SH3GLB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SH3GLB1: view

Variants for SH3GLB1 Gene

Sequence variations from dbSNP and Humsavar for SH3GLB1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000017715 -- 86,708,680(+) TGGTA(A/G)AATAC intron-variant
rs1000033069 -- 86,705,504(+) AGCCC(C/G)CGGGG intron-variant, upstream-variant-2KB
rs1000066885 -- 86,722,011(+) CCATC(C/T)TTTTT intron-variant
rs1000104930 -- 86,705,829(+) AAACA(A/G)TCTGG intron-variant, upstream-variant-2KB
rs1000167237 -- 86,718,619(+) AATCT(A/G)TGTGA intron-variant

Variation tolerance for SH3GLB1 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3GLB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3GLB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SH3GLB1 Gene

Disorders for SH3GLB1 Gene

Relevant External Links for SH3GLB1

Genetic Association Database (GAD)
SH3GLB1
Human Genome Epidemiology (HuGE) Navigator
SH3GLB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3GLB1

No disorders were found for SH3GLB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3GLB1 Gene

Publications for SH3GLB1 Gene

  1. SH3GLB, a new endophilin-related protein family featuring an SH3 domain. (PMID: 11161816) Pierrat B. … Heim J. (Genomics 2001) 2 3 4 22 64
  2. Endophilin B1 is required for the maintenance of mitochondrial morphology. (PMID: 15452144) Karbowski M. … Youle R.J. (J. Cell Biol. 2004) 3 4 22 64
  3. Characterization of endophilin B1b, a brain-specific membrane- associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1. (PMID: 12456676) Modregger J. … Plomann M. (J. Biol. Chem. 2003) 3 4 22 64
  4. Molecular cloning and characterization of Bif-1. A novel Src homology 3 domain-containing protein that associates with Bax. (PMID: 11259440) Cuddeback S.M. … Wang H.-G. (J. Biol. Chem. 2001) 2 3 4 64
  5. Bif-1 regulates Atg9 trafficking by mediating the fission of Golgi membranes during autophagy. (PMID: 21068542) Takahashi Y. … Wang H.G. (Autophagy 2011) 3 4 64

Products for SH3GLB1 Gene

Sources for SH3GLB1 Gene

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