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SH3GLB1 Gene

protein-coding   GIFtS: 65
GCID: GC01P087170

SH3-Domain GRB2-Like Endophilin B1

(Previous names: SH3-domain, GRB2-like, endophilin B1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SH3-Domain GRB2-Like Endophilin B11 2     PPP1R702
Bif-12 3     dJ612B15.22
Bax-Interacting Factor 12 3     endophilin-B12
SH3 Domain-Containing GRB2-Like Protein B12 3     Protein Phosphatase 1, Regulatory Subunit 702
Protein Phosphatase 11     SH3-Containing Protein SH3GLB12
Regulatory Subunit 701     KIAA04913
SH3-Domain, GRB2-Like, Endophilin B11     

External Ids:    HGNC: 108331   Entrez Gene: 511002   Ensembl: ENSG000000970337   OMIM: 6092875   UniProtKB: Q9Y3713   

Export aliases for SH3GLB1 gene to outside databases

Previous GC identifers: GC01P087672 GC01P086339 GC01P086462 GC01P086593 GC01P086882 GC01P085280


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with SH3GLB1 include vesiculitis, and merkel cell carcinoma. GO annotations related to this gene include protein homodimerization activity and fatty acid binding. An important paralog of this gene is SH3GL3.

UniProtKB/Swiss-Prot: SHLB1_HUMAN, Q9Y371
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 Wiki entry for SH3GLB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3GLB1 gene promoter:
         Sox5   FOXO3   Cdc5   NF-kappaB   Ik-3   FOXO3b   HFH-1   NF-kappaB2   FOXO3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SH3GLB1 promoter sequence
   Search Chromatin IP Primers for SH3GLB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3GLB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p22   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

SH3GLB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3GLB1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P087170:  view genomic region     (about GC identifiers)

Start:
87,170,253 bp from pter      End:
87,213,867 bp from pter
Size:
43,615 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SHLB1_HUMAN, Q9Y371 (See protein sequence)
Recommended Name: Endophilin-B1  
Size: 365 amino acids; 40796 Da
Subunit: 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
Miscellaneous: SH3GLB1 binds liposomes and induces formation of tubules from liposomes. SH3GLB1 lacking the
N-terminal amphipathic helix fails to induce liposome tubulation
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Caution: Was originally (PubMed:12456676) thought to have lysophosphatidic acid acyltransferase activity, but by
homology with SH3GL2/endophilin A1 is unlikely to have this activity
Sequence caution: Sequence=AAF81225.1; Type=Erroneous initiation; Sequence=BAD88797.1; Type=Erroneous initiation;
Secondary accessions: B4E182 Q5H8U5 Q9H3Z0 Q9NR47 Q9NYA9
Alternative splicing: 3 isoforms:  Q9Y371-1   Q9Y371-2   Q9Y371-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3GLB1: NX_Q9Y371

Explore proteomics data for SH3GLB1 at MOPED

Post-translational modifications: 

  • Phosphorylated at Thr-145 by CDK5; this phosphorylation is required for autophagy induction in starved neurons and
    facilitates homodimerization1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3GLB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001193580.1  NP_001193581.1  NP_001193582.1  NP_057093.1  

    ENSEMBL proteins: 
     ENSP00000473267   ENSP00000418744   ENSP00000441355  

    SH3GLB1 Human Recombinant Protein Products:

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    SH3GLB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SH3GLB1
    R&D Systems Antibodies for SH3GLB1 (Endophilin B1/Bif-1)
    Cell Signaling Technology (CST) Antibodies for SH3GLB1 
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    Novus Biologicals SH3GLB1 Antibodies
    Abcam antibodies for SH3GLB1
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    LSBio Antibodies in human, mouse, rat for SH3GLB1

    SH3GLB1 Assay Products:

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    Cloud-Clone Corp. CLIAs for SH3GLB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    4 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR001452 SH3_domain
     IPR028503 SH3GLB1
     IPR004148 BAR_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y371

    ProtoNet protein and cluster: Q9Y371

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: SHLB1_HUMAN, Q9Y371
    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
    Similarity: Belongs to the endophilin family
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 SH3 domain


    SH3GLB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHLB1_HUMAN, Q9Y371
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005504fatty acid binding IEA--
    GO:0005515protein binding IPI11161816
    GO:0042171lysophosphatidic acid acyltransferase activity IEA--
    GO:0042802identical protein binding IPI19805544
    GO:0042803protein homodimerization activity IPI11161816
         
    SH3GLB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SH3GLB1:
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sh3glb1):
     cellular 

    SH3GLB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh3glb1tm1Hgw for SH3GLB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3GLB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SH3GLB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SH3GLB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SH3GLB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SH3GLB1:
    hsa-mir-29c-3p (MIRT020362), hsa-mir-93-5p (MIRT028134), hsa-let-7b-5p (MIRT032399)

    Block miRNA regulation of human, mouse, rat SH3GLB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SH3GLB1 (see all 53):
    hsa-miR-100* hsa-miR-199a-3p hsa-miR-875-5p hsa-miR-29a hsa-miR-570 hsa-miR-124 hsa-miR-9 hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SH3GLB1

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    GenScript: all cDNA clones in your preferred vector (see all 4): SH3GLB1 (NM_016009)
    Sino Biological Human cDNA Clone for SH3GLB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SH3GLB1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3GLB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SHLB1_HUMAN, Q9Y371: Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein (By similarity).
    Mitochondrion outer membrane; Peripheral membrane protein. Note=Association with the Golgi apparatus depends on
    the cell type (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    mitochondrion5
    cytosol3
    endosome2
    nucleus2
    cytoskeleton1
    vacuole1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005737cytoplasm IDA--
    GO:0005741mitochondrial outer membrane IEA--
    GO:0016020membrane ----
    GO:0043234protein complex IEA--

    SH3GLB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SH3GLB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Transport Clathrin coated vesicle cycle0.66
    wtCFTR and delta508 traffic Clathrin coated vesicles formation norm and CF 0.35
    2Senescence and Autophagy
    Senescence and Autophagy
    3Endocytosis
    Endocytosis
    4Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SH3GLB1
        Apoptosis and Autophagy

    2 GeneGo (Thomson Reuters) Pathways for SH3GLB1
        wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for SH3GLB1
        Senescence and Autophagy



    1 Kegg Pathway  (Kegg details for SH3GLB1):
        Endocytosis


    SH3GLB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SH3GLB1: 
              Mitochondria in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SH3GLB1

    Selected Interacting proteins for SH3GLB1 (Q9Y3711, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 240)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006654phosphatidic acid biosynthetic process IEA--
    GO:0006915apoptotic process IEA--
    GO:0008654phospholipid biosynthetic process ----
    GO:0032461positive regulation of protein oligomerization IDA19074440
    GO:0051084'de novo' posttranslational protein folding IEA--

    SH3GLB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH3GLB1 (SHLB1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SH3GLB1 gene (4 alternative transcripts): 
    NM_001206651.1  NM_001206652.1  NM_001206653.1  NM_016009.4  

    Unigene Cluster for SH3GLB1:

    SH3-domain GRB2-like endophilin B1
    Hs.136309  [show with all ESTs]
    Unigene Representative Sequence: NM_001206651
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370558(uc001dlx.3 uc001dly.3 uc001dlw.3 uc001dlz.3)
    ENST00000482504 ENST00000602603 ENST00000535010

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    Selected qRT-PCR Assays for microRNAs that regulate SH3GLB1 (see all 53):
    hsa-miR-100* hsa-miR-199a-3p hsa-miR-875-5p hsa-miR-29a hsa-miR-570 hsa-miR-124 hsa-miR-9 hsa-miR-29a*
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      QuantiTect SYBR Green Assays in human, mouse, rat SH3GLB1
      QuantiFast Probe-based Assays in human, mouse, rat SH3GLB1

    Additional mRNA sequence: 

    AB007960.2 AF151819.1 AF257318.1 AF263293.1 AF350371.1 AK001954.1 AK225864.1 AK303710.1 
    BC007455.2 

    10 DOTS entries:

    DT.444330  DT.100812769  DT.100812771  DT.100812772  DT.121410516  DT.115561  DT.121410541  DT.95315781 
    DT.95315787  DT.115564 

    Selected AceView cDNA sequences (see all 379):

    BE139089 AI364564 AA995672 AW151799 N49038 BM975823 AI190529 AA465255 
    AA574222 BE502850 BF195935 AA383124 BQ573833 AL599954 BU621181 BM988766 
    BQ574419 AI678154 AI377009 AI383627 CD675838 AL704534 AI699592 BG696231 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SH3GLB1    About this scheme

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


    ECgene alternative splicing isoforms for SH3GLB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SH3GLB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATATTCCATC
    SH3GLB1 Expression
    About this image


    SH3GLB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Colon (Gastrointestinal Tract)
    SH3GLB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3GLB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.136309

    UniProtKB/Swiss-Prot: SHLB1_HUMAN, Q9Y371
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SH3GLB1: 
              Mitochondria in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat SH3GLB1
    QuantiFast Probe-based Assays in human, mouse, rat SH3GLB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3GLB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SH3GLB1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3glb11 , 5 SH3-domain GRB2-like B1 (endophilin)1, 5 90.85(n)1
    95.85(a)1
      3 (69.00 cM)5
    546731  NM_001282037.11  NP_001268966.11 
     1446888445 
    chicken
    (Gallus gallus)
    Aves SH3GLB11 SH3-domain GRB2-like endophilin B1 82.64(n)
    89.47(a)
      424522  NM_001006534.1  NP_001006534.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH3GLB16
    SH3-domain GRB2-like endophilin B1
    82(a)
    1 ↔ 1
    4(97400549-97428800)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.258262 Xenopus laevis transcribed sequence with weak similarity more 78.57(n)    BU913782.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa08f032 Danio rerio, clone IMAGE5777505, mRNA 76.16(n)    BC050954.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta endoB1 , 3 membrane organization and biogenesis3
    endophilin B1
    39(a)3
    50.54(n)1
    44.89(a)1
      56C103
    372181  NM_137566.31  NP_611410.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F35A5.8b3   -- 51(a)
    (best of 2)
      X(3836480-3838046)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3GLB1 gene
    SH3GL32  SH3GL12  SH3GL22  SH3GLB22  
    1 SIMAP similar gene for SH3GLB1 using alignment to 1 protein entry:     SHLB1_HUMAN:
    SH3GLB2

    SH3GLB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SH3GLB1 (see all 845)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1446127901,2
    C--85301113(+) GTTTGC/TGCCAC 4 -- int10--------
    rs1855115931,2
    C--85301175(+) AAAAAA/TATATA 4 -- int10--------
    rs115776581,2
    C,F,H--85301177(+) aaaaaT/Aatata 4 -- int11Minor allele frequency- A:0.50NA 4
    rs38340071,2
    C--87169593(+) TGCTTAAG/-AAGTT 4 -- us2k13Minor allele frequency- -:0.20MN EA NA 1254
    rs349095311,2
    C--87175950(+) AAGAA-/T/TT  
            
    TTTTT
    4 -- int12NA CSA 4
    rs760894771,2
    C,F--87182132(+) TTTTTG/TTGTGT 4 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs348521851,2
    C--87183725(+) TTTTTT/-GAGAC 4 -- int11Minor allele frequency- -:0.50NA 2
    rs568906121,2
    C--87187715(+) TTTTT-/TT/   
      TTTTTT
    AATAG
    8 -- int1 cds11NA 2
    rs1869284261,2
    C--87189644(+) TTTGGC/GAATGA 4 -- us2k10--------
    rs1914228181,2
    --87189681(+) GAGGTG/TGAAAT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SH3GLB1 (87170253 - 87213867 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SH3GLB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv871378CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SH3GLB1
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3GLB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609287    OMIM disorders: --

    11 diseases for SH3GLB1:    
    About MalaCards
    vesiculitis    merkel cell carcinoma    gallbladder cancer    pancreatic ductal adenocarcinoma
    parkinson's disease    adenocarcinoma    pancreatitis    prostate cancer
    prostatitis    breast cancer    malaria


    SH3GLB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SH3GLB1
    Human Genome Epidemiology (HuGE) Navigator: SH3GLB1 (1 document)

    Export disorders for SH3GLB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SH3GLB1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with SH3GLB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SH3GLB, a new endophilin-related protein family featuring an SH3 domain. (PubMed id 11161816)1, 2, 3, 9 Pierrat B.... Heim J. (Genomics 2001)
    2. Molecular cloning and characterization of Bif-1. A novel Src homology 3 domain-containing protein that associates with Bax. (PubMed id 11259440)1, 2, 3 Cuddeback S.M.... Wang H.-G. (J. Biol. Chem. 2001)
    3. Endophilin B1 is required for the maintenance of mitochondrial morphology. (PubMed id 15452144)1, 2, 9 Karbowski M.... Youle R.J. (J. Cell Biol. 2004)
    4. Characterization of endophilin B1b, a brain-specific membrane- associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1. (PubMed id 12456676)1, 2, 9 Modregger J.... Plomann M. (J. Biol. Chem. 2003)
    5. Somatic mutation of pro-cell death Bif-1 gene is rare in common human cancers. (PubMed id 19132989)1, 4 Kim M.S....Lee S.H. (APMIS 2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.-H.... Lin W.-C. (Genome Res. 2000)
    10. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (DNA Res. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51100 HGNC: 10833 AceView: SH3GLB1 Ensembl:ENSG00000097033 euGenes: HUgn51100
    ECgene: SH3GLB1 Kegg: 51100 H-InvDB: SH3GLB1

    (According to HUGE)
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    HUGE: KIAA0491

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SH3GLB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SH3GLB1 gene:
    Search GeneIP for patents involving SH3GLB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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