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Aliases for SH3GLB1 Gene

Aliases for SH3GLB1 Gene

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

External Ids for SH3GLB1 Gene

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 GRB2-Like Endophilin B1) is a Protein Coding gene. Among its related pathways are Endocytosis and Delta508-CFTR traffic / ER-to-Golgi in CF. GO annotations related to this gene include protein homodimerization activity and fatty acid binding. An important paralog of this gene is SH3GLB2.

UniProtKB/Swiss-Prot for SH3GLB1 Gene

  • May be required for normal outer mitochondrial membrane dynamics. Required for coatomer-mediated retrograde transport in certain cells. May recruit other proteins to membranes with high curvature. May promote membrane fusion.

Gene Wiki entry for SH3GLB1 Gene

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

Genomics for SH3GLB1 Gene

Genomic Location for SH3GLB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SH3GLB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3GLB1 Gene

Regulatory Elements 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:
    • Binds DNM1, HTT, AMPH, BIN1 and ARFGAP1 (By similarity). Homodimer, and heterodimer with SH3GLB2. Binds BAX. Induction of apoptosis augments BAX binding.
    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

Proteomics data for SH3GLB1 Gene at MOPED

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

Other Protein References for SH3GLB1 Gene

No data available for DME Specific Peptides for SH3GLB1 Gene

Domains for SH3GLB1 Gene

Gene Families for SH3GLB1 Gene

HGNC:
  • PPP1R :Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

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
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.:
    • Q9Y371
  • Contains 1 BAR domain.:
    • Q9Y371
  • Contains 1 SH3 domain.:
    • Q9Y371
Family:
  • Belongs to the endophilin family.:
    • Q9Y371
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. Required for coatomer-mediated retrograde transport in certain cells. May recruit other proteins to membranes with high curvature. May promote membrane fusion.

Gene Ontology (GO) - Molecular Function for SH3GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005504 fatty acid binding --
GO:0005515 protein binding IPI 11161816
GO:0008289 lipid binding IEA --
GO:0042171 lysophosphatidic acid acyltransferase activity --
GO:0042802 identical protein binding IPI 19805544
genes like me logo Genes that share ontologies with SH3GLB1: view

Phenotypes for SH3GLB1 Gene

MGI mutant phenotypes for SH3GLB1:
inferred from 1 alleles
GenomeRNAi human phenotypes for SH3GLB1:
genes like me logo Genes that share phenotypes with SH3GLB1: view

Animal Models for SH3GLB1 Gene

MGI Knock Outs for SH3GLB1:

miRNA for SH3GLB1 Gene

miRTarBase miRNAs that target SH3GLB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. Note=Association with the Golgi apparatus depends on the cell type. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3GLB1 Gene COMPARTMENTS Subcellular localization image for SH3GLB1 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 5
cytosol 3
endosome 2
nucleus 2
cytoskeleton 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SH3GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0000421 autophagic vacuole membrane IDA 17891140
GO:0005737 cytoplasm IDA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005794 Golgi apparatus --
genes like me logo Genes that share ontologies with SH3GLB1: view

Pathways 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
1 BioSystems pathway for SH3GLB1 Gene
1 KEGG pathway for SH3GLB1 Gene

Gene Ontology (GO) - Biological Process for SH3GLB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006654 phosphatidic acid biosynthetic process --
GO:0006915 apoptotic process IEA --
GO:0008654 phospholipid biosynthetic process --
GO:0010508 positive regulation of autophagy IMP 17891140
GO:0032461 positive regulation of protein oligomerization IDA 19074440
genes like me logo Genes that share ontologies with SH3GLB1: view

Transcripts for SH3GLB1 Gene

Unigene Clusters for SH3GLB1 Gene

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

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 for SH3GLB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3GLB1 Gene

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.
genes like me logo Genes that share expressions with SH3GLB1: view

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 35
  • 99.74 (n)
  • 99.74 (a)
SH3GLB1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3GLB1 35
  • 94.06 (n)
  • 95.89 (a)
SH3GLB1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3GLB1 35
  • 93.87 (n)
  • 94.48 (a)
SH3GLB1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3glb1 35
  • 90.85 (n)
  • 95.85 (a)
Sh3glb1 16
Sh3glb1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3GLB1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH3GLB1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3glb1 35
  • 89.32 (n)
  • 94.79 (a)
chicken
(Gallus gallus)
Aves SH3GLB1 35
  • 82.64 (n)
  • 89.47 (a)
SH3GLB1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3GLB1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25826 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3glb1 35
  • 74.7 (n)
  • 82.27 (a)
Str.16229 35
zebrafish
(Danio rerio)
Actinopterygii sh3glb1a 35
  • 70.29 (n)
  • 77.44 (a)
sh3glb1a 36
  • 77 (a)
OneToMany
sh3glb1b 36
  • 74 (a)
OneToMany
wufa08f03 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010376 35
  • 50.9 (n)
  • 47.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta endoB 35
  • 50.54 (n)
  • 44.89 (a)
endoB 36
  • 40 (a)
OneToMany
endoB 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea erp-1 36
  • 45 (a)
OneToMany
F35A5.8a 37
  • 44 (a)
F35A5.8b 37
  • 51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7943 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToOne
Species with no ortholog for SH3GLB1:
  • 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

Selected 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 MAF
rs7805 -- 86,743,270(-) TACAA(A/T)GTCAT utr-variant-3-prime
rs10446 -- 86,747,316(-) gtctc(C/T)gaaaa utr-variant-3-prime
rs166415 -- 86,742,117(-) ACCAA(A/C)CTTCA intron-variant
rs183803 -- 86,710,526(-) GCACT(G/T)TGGGA intron-variant
rs183804 -- 86,704,350(-) GAAAT(A/G)TAGGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SH3GLB1 Gene

Variant ID Type Subtype PubMed ID
nsv871378 CNV Loss 21882294

Relevant External Links for SH3GLB1 Gene

HapMap Linkage Disequilibrium report
SH3GLB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3GLB1 Gene

Disorders for SH3GLB1 Gene

Relevant External Links for SH3GLB1

Genetic Association Database (GAD)
SH3GLB1
Human Genome Epidemiology (HuGE) Navigator
SH3GLB1
genes like me logo Genes that share disorders with SH3GLB1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. Endophilin B1 is required for the maintenance of mitochondrial morphology. (PMID: 15452144) Karbowski M. … Youle R.J. (J. Cell Biol. 2004) 3 4 23
  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
  5. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N. … Ohara O. (DNA Res. 1997) 3 4

Products for SH3GLB1 Gene

Sources for SH3GLB1 Gene

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