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OBSCN Gene

protein-coding   GIFtS: 59
GCID: GC01P228395

Obscurin, Cytoskeletal Calmodulin And Titin-Interacting...

  See related diseases
at  

(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
Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF1 2     EC 2.7.11.13
ARHGEF302     KIAA15563
UNC892     KIAA16393
obscurin2     Obscurin-MLCK3
Obscurin, Myosin Light Chain Kinase2     Obscurin-RhoGEF3
obscurin-MLCK2     Obscurin-Myosin Light Chain Kinase3

External Ids:    HGNC: 157191   Entrez Gene: 840332   Ensembl: ENSG000001543587   OMIM: 6086165   UniProtKB: Q5VST93   

Export aliases for OBSCN gene to outside databases

Previous GC identifers: GC01P226893 GC01M224138 GC01P224855 GC01P225370 GC01P224702 GC01P226462 GC01P198910


(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 OBSCN Gene:
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa.
The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF
domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of
giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of
myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils.
Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq,
Jul 2008)

GeneCards Summary for OBSCN Gene:
OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF) is a protein-coding gene. Diseases associated with OBSCN include leiomyosarcoma, and gastrointestinal stromal tumor. GO annotations related to this gene include protein serine/threonine kinase activity and calmodulin binding. An important paralog of this gene is STK17B.

UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9
Function: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in
striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the
sarcoplasmic reticulum and myofibrils

Gene Wiki entry for OBSCN 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_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OBSCN gene promoter:
         AhR   NRSF form 1   Lmo2   LUN-1   HNF-4alpha2   NRSF form 2   Gfi-1   Arnt   HNF-4alpha1   HEN1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOBSCN promoter sequence
   Search Chromatin IP Primers for OBSCN

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


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

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q42

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P228395:  view genomic region     (about GC identifiers)

Start:
228,395,831 bp from pter      End:
228,566,577 bp from pter
Size:
170,747 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9 (See protein sequence)
Recommended Name: Obscurin  
Size: 7968 amino acids; 868484 Da
Cofactor: Magnesium (By similarity)
Subunit: Isoform 3 interacts with TTN/titin, ANK1 isoform Mu17/ank1.5, and with calmodulin in a Ca(2+)-independent
manner. Associates with fast skeletal muscle myosin (By similarity)
Caution: Initially the name obscurin was used to describe isoform 3 which lacks the kinase domains
Sequence caution: Sequence=CAC85746.1; Type=Erroneous gene model prediction; Sequence=CAC85749.1; Type=Erroneous
gene model prediction; Sequence=CAC85750.1; Type=Erroneous gene model prediction; Sequence=CAH71670.2;
Type=Erroneous gene model prediction; Sequence=CAI19283.1; Type=Erroneous gene model prediction;
Sequence=CAI19284.1; Type=Erroneous gene model prediction;
Selected PDB 3D structures from and Proteopedia for OBSCN (see all 16):
1V1C (3D)        2CR6 (3D)        2DKU (3D)        2DM7 (3D)        2E7B (3D)        2EDF (3D)    
Secondary accessions: Q2A664 Q5T7G8 Q5T7G9 Q5VSU2 Q86YC7 Q8NHN0 Q8NHN1 Q8NHN2 Q8NHN3 Q8NHN4
Q8NHN5 Q8NHN6 Q8NHN7 Q8NHN8 Q8NHN9 Q96AA2 Q9HCD3 Q9HCL6
Alternative splicing: 5 isoforms:  Q5VST9-1   Q5VST9-2   Q5VST9-3   Q5VST9-5   Q5VST9-6   (No experimental confirmation available. Ref.4 (BAB13382) sequence differs from that shown due to frameshifts in positions 3891, 5061, 5093, 5268, 6352 and 6919)

Explore the universe of human proteins at neXtProt for OBSCN: NX_Q5VST9

Explore proteomics data for OBSCN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001092093.2  NP_001258152.2  NP_443075.3  

    ENSEMBL proteins: 
     ENSP00000284548   ENSP00000455507   ENSP00000355667   ENSP00000455688   ENSP00000388554  
     ENSP00000455500   ENSP00000409493   ENSP00000352613   ENSP00000355668   ENSP00000355670  
    Reactome Protein details: Q5VST9

    OBSCN Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for OBSCN

    OBSCN Antibody Products:

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    OBSCN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for OBSCN
    Cloud-Clone Corp. CLIAs for OBSCN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    IUPHAR Guide to PHARMACOLOGY protein family classification: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
    Trio family

    Selected InterPro protein domains (see all 18):
     IPR003598 Ig_sub2
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR000219 DH-domain
     IPR003961 Fibronectin_type3

    Graphical View of Domain Structure for InterPro Entry Q5VST9

    ProtoNet protein and cluster: Q5VST9

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB003598 Immunoglobulin C-2 type
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 55 Ig-like (immunoglobulin-like) domains
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 2 protein kinase domains
    Similarity: Contains 1 SH3 domain


    OBSCN 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: OBSCN_HUMAN, Q5VST9
    Function: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in
    striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the
    sarcoplasmic reticulum and myofibrils
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity IEA--
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI11448995
         
    OBSCN for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Obscn):
     muscle 

    OBSCN for phenotypes           About GeneDecksing

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target OBSCN:
    hsa-mir-155-5p (MIRT020811)

    Block miRNA regulation of human, mouse, rat OBSCN using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate OBSCN:
    hsa-miR-1294
    SwitchGear 3'UTR luciferase reporter plasmidOBSCN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OBSCN
    Predesigned siRNA for gene silencing in human, mouse, rat OBSCN

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): OBSCN (NM_001098623)
    Sino Biological Human cDNA Clone for OBSCN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OBSCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OBSCN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for OBSCN 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSCN


    (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
    OBSCN_HUMAN, Q5VST9: Isoform 3: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line.
    Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less
    frequently to the Z-disk. Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated
    skeletal muscle cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    endoplasmic reticulum2
    nucleus2
    plasma membrane2
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030016myofibril NAS11717165
    GO:0030018Z disc ISS11717165
    GO:0031430M band ISS11717165

    OBSCN 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 OBSCN About    
    See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    4Signaling by FGFR
    Signalling by NGF0.71
    5Regulation of RhoA activity
    Regulation of RhoA activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for OBSCN
        Regulation of RhoA activity


    3 Reactome Pathways for OBSCN
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle



    OBSCN for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OBSCN
    Interactions:

        GeneGlobe Interaction Network for OBSCN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for OBSCN (Q5VST91, 2, 3 ENSP000004094934) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTNQ8WZ421, 2, 3EBI-941850,EBI-681210 MINT-7979881 MINT-7979650 MINT-7979863 MINT-7979665 MINT-7979826 MINT-7979808 MINT-7979844 I2D: score=3 
    ANK1P161571, 2, 3, ENSP000002657094EBI-941921,EBI-941686 MINT-50079 MINT-50077 MINT-50078 MINT-50080 MINT-50083 I2D: score=3 STRING: ENSP00000265709
    ANK2Q014842, 3, ENSP000003495884MINT-50081 I2D: score=1 STRING: ENSP00000349588
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007275multicellular organismal development IEA--
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0036309protein localization to M-band ISS18782775

    OBSCN 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 OBSCN

    1 HMDB Compound for OBSCN    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--



    (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,
    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 OBSCN gene (3 alternative transcripts): 
    NM_001098623.2  NM_001271223.2  NM_052843.3  

    Unigene Cluster for OBSCN:

    Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
    Hs.656999  [show with all ESTs]
    Unigene Representative Sequence: NM_001271223
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284548(uc001hsn.3) ENST00000570156 ENST00000493977 ENST00000366706(uc001hsp.1)
    ENST00000366704 ENST00000483539 ENST00000494839 ENST00000602685 ENST00000602832
    ENST00000441106 ENST00000474237(uc009xfa.3) ENST00000422127(uc009xez.1 uc001hsr.1)
    ENST00000359599 ENST00000366707(uc001hsq.1) ENST00000366709
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    1 qRT-PCR Assays for microRNA that regulate OBSCN:
    hsa-miR-1294
    SwitchGear 3'UTR luciferase reporter plasmidOBSCN 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat OBSCN

    Additional mRNA sequence: 

    AB046776.1 AB046859.2 AJ002535.1 AK097489.1 AK294019.1 AL832357.1 AL833724.1 AM231061.1 
    BC034746.1 BC098118.1 BC098262.1 BC098292.1 BC099731.1 BC114382.1 BC114461.1 DQ400343.1 

    15 DOTS entries:

    DT.309204  DT.91660234  DT.40192867  DT.100019129  DT.432103  DT.95070233  DT.91742598  DT.92068659 
    DT.97813424  DT.121379161  DT.91941546  DT.101962611  DT.40235496  DT.91833941  DT.91961510 

    Selected AceView cDNA sequences (see all 66):

    BC034746 CA396562 AK097489 BQ001756 BM984363 CK299696 CD674219 CA430292 
    BX279955 BC043916 BE466441 AL080128 AI080136 BM551034 AL833724 CA391927 
    F28086 BQ446463 AJ002535 AJ571824 BG222837 BE731455 AJ573143 NM_052843 

    GeneLoc Exon Structure


    (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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    OBSCN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAGCGCCG
    OBSCN Expression
    About this image


    OBSCN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Heart (Cardiovascular System)
     
     Skeletal Muscle (Muscoskeletal System)
    OBSCN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OBSCN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656999
        Custom PCR Arrays for OBSCN
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat OBSCN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSCN

    (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 and fungi.

    Orthologs for OBSCN gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Obscn1 , 5 obscurin, cytoskeletal calmodulin and titin-interacting more1, 5 65.77(n)1
    58.59(a)1
      11 (36.40 cM)5
    3806981  NM_001171512.21  NP_001164983.21 
     589942595 
    chicken
    (Gallus gallus)
    Aves OBSCN1 obscurin, cytoskeletal calmodulin and titin-interacting more 53.54(n)
    45.05(a)
      420395  XM_418501.4  XP_418501.4 
    lizard
    (Anolis carolinensis)
    Reptilia OBSCN6
    obscurin, cytoskeletal calmodulin and titin-intera...
    46(a)
    1 ↔ 1
    6(2933697-3131806)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017305641 obscurin-like 52.56(n)
    44.78(a)
      101730564  XM_004915708.1  XP_004915765.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5724121 obscurin-like 49.33(n)
    39.35(a)
      572412  XM_005162874.1  XP_005162931.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-226
    Protein UNC-22, isoform f (unc-22) mRNA, complete ...
    8(a)
    1 → many
    IV(11972708-12011007) WBGene00006759
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEK16
    Meiosis-specific serine/threonine protein kinase, ...
    28(a)
    1 → many
    XV(995018-996511) YOR351C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OBSCN gene
    STK17B2  DAPK22  MYLK22  TTN2  STK17A2  MYLK32  DAPK32  SPEG2  
    MYLK42  DAPK12  MYLK2  
    Selected SIMAP similar genes for OBSCN using alignment to 11 protein entries:     OBSCN_HUMAN (see all proteins) (see all similar genes):
    DCC    RPS6KA1    MAPK3    HUNK    PRKD3    STK17B
    DAPK1    MYLK4    RPS6KA2    STK25    BRSK2    RPS6KA3
    TRIB1    PHKG2    PNCK    STK17A    DAPK3    MARK4

    OBSCN for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for OBSCN
    PGOHUM00000245240


    (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)
    About This Section

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    Selected SNPs for OBSCN (see all 4886)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355334
    A colorectal cancer sample4--see VAR_0355332 E K mis40--------
    VAR_0355314
    A colorectal cancer sample4--see VAR_0355312 R H mis40--------
    VAR_0355344
    A breast cancer sample4--see VAR_0355342 S F mis40--------
    VAR_0355354
    A colorectal cancer sample4--see VAR_0355352 R Q mis40--------
    VAR_0355364
    A colorectal cancer sample4--see VAR_0355362 R H mis40--------
    VAR_0355384
    A breast cancer sample4--see VAR_0355382 A T mis40--------
    VAR_0355324
    A colorectal cancer sample4--see VAR_0355322 V M mis40--------
    VAR_0355304
    A colorectal cancer sample4--see VAR_0355302 A V mis40--------
    VAR_0355374
    A breast cancer sample4--see VAR_0355372 R Q mis40--------
    rs31211891,2
    C,F,A,H--198916425(-) CCAGTA/CCCAAC 3 -- int14Minor allele frequency- C:0.44NA WA 242

    HapMap Linkage Disequilibrium report for OBSCN (228395831 - 228566577 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for OBSCN (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv102e199CNV Deletion23128226
    esv2724284CNV Deletion23290073
    esv2659508CNV Deletion23128226
    esv2659533CNV Deletion23128226
    esv2724295CNV Deletion23290073
    esv995050CNV Deletion20482838
    nsv873280CNV Loss21882294
    nsv873263CNV Loss21882294
    nsv827019CNV Loss20364138
    nsv523935CNV Loss19592680

    Human Gene Mutation Database (HGMD): OBSCN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OBSCN
    DNA2.0 Custom Variant and Variant Library Synthesis for OBSCN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608616    OMIM disorders: --

    UniProtKB/Swiss-Prot: OBSCN_HUMAN, Q5VST9
  • Note=A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation
    t(1;7)(q42;p15) with PTHB1

  • 8 diseases for OBSCN:    
    About MalaCards
    leiomyosarcoma    gastrointestinal stromal tumor    hypertrophic cardiomyopathy    breast and colorectal cancer
    melanoma    colorectal cancer    multiple myeloma    myeloma


    OBSCN for disorders           About GeneDecksing

    Genetic Association Database (GAD): OBSCN
    Human Genome Epidemiology (HuGE) Navigator: OBSCN (1 document)

    Export disorders for OBSCN 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 OBSCN gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with OBSCN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, tissue expression and chromosomal localization of human obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases. (PubMed id 11814696)1, 2, 3, 9 Russell M.W.... Sonneman K.J. (Gene 2002)
    2. Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. (PubMed id 11448995)1, 2, 3 Young P.W.... Gautel M. (J. Cell Biol. 2001)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing. (PubMed id 16205939)1, 2 Borisov A.B.... Russell M.W. (Histochem. Cell Biol. 2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Complete human gene structure of obscurin: implications for isoform generation by differential splicing. (PubMed id 16625316)1, 2 Fukuzawa A.... Gautel M. (J. Muscle Res. Cell Motil. 2005)
    7. Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. (PubMed id 12527750)1, 2 Bagnato P.... Sorrentino V. (J. Cell Biol. 2003)
    8. The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system. (PubMed id 11717165)1, 2 Bang M.-L....Labeit S. (Circ. Res. 2001)
    9. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases. (PubMed id 15185077)1, 9 Sutter S.B.... Russell M.W. (Dev. Genes Evol. 2004)

    (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)
    About This Section

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    Entrez Gene: 84033 HGNC: 15719 AceView: OBSCN Ensembl:ENSG00000154358 euGenes: HUgn84033
    ECgene: OBSCN H-InvDB: OBSCN

    (According to HUGE)
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    HUGE: KIAA1556 KIAA1639

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OBSCN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OBSCN gene:
    Search GeneIP for patents involving OBSCN

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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