Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OBSCN Gene

protein-coding   GIFtS: 58
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are NRAGE signals death through JNK and Signaling by GPCR. GO annotations related to this gene include protein serine/threonine kinase activity and calmodulin binding. An important paralog of this gene is MYOT.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for OBSCN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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
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;
6/16 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VST9

  • OBSCN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OBSCN Protein Expression
    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
    Human Recombinant Protein Products for OBSCN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for OBSCN
    GenScript Custom Purified and Recombinant Proteins Services for OBSCN
    Novus Biologicals OBSCN Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OBSCN 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0030016myofibril NAS11717165
    GO:0030018Z disc ISS11717165
    GO:0031430M band ISS11717165

    OBSCN for ontologies           About GeneDecksing



    OBSCN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of OBSCN
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for OBSCN
    GenScript Custom Superior Antibodies Services for OBSCN
    Novus Biologicals OBSCN Antibodies
    Abcam antibodies for OBSCN
    Cloud-Clone Corp. Antibodies for OBSCN 
    Search ThermoFisher Antibodies for OBSCN
    Search LSBio for Antibodies for OBSCN 

    Assay Products for OBSCN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for OBSCN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for OBSCN
    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    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

    5/19 InterPro protein domains (see all 19):
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    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 - Custom generated mouse model solutions for OBSCN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OBSCN
    1 QIAGEN miScript miRNA Assays for microRNA that regulate OBSCN:
    hsa-miR-1294
    SwitchGear 3'UTR luciferase reporter plasmidOBSCN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OBSCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OBSCN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for OBSCN


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for OBSCN (see all 5)
    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
    Products:
         
    GenScript Custom overexpressing Cell Line Services for OBSCN
    Search LifeMap BioReagents cell lines for OBSCN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSCN


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for OBSCN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE0.74
    p75 NTR receptor-mediated signalling0.73
    NRAGE signals death through JNK0.74
    G alpha (12/13) signalling events0.46
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Signaling by Rho GTPases1.00
    Rho GTPase cycle1.00
    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


    5/10        Reactome Pathways for OBSCN (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    OBSCN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OBSCN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/14 Interacting proteins for OBSCN (Q5VST91, 2, 3 ENSP000004094934) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5/10 biological process terms (GO ID links to tree view) (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 IEA--
    GO:0036309protein localization to M-band ISS18782775

    OBSCN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OBSCN

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

    Search CenterWatch for drugs/clinical trials and news about OBSCN

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OBSCN
    1 QIAGEN miScript miRNA Assays for microRNA that regulate OBSCN:
    hsa-miR-1294
    SwitchGear 3'UTR luciferase reporter plasmidOBSCN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for OBSCN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OBSCN
    Clone
    Products:
         
    OriGene clones in human, mouse for OBSCN (see all 5)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OBSCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OBSCN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for OBSCN
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OBSCN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OBSCN
      QIAGEN 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 

    24/66 AceView cDNA sequences (see all 66):

    BC034746 F28086 CK299696 BQ001756 AL080128 CD674219 AI080136 BM551034 
    BC043916 BM984363 BE466441 AK097489 BX279955 CA430292 CA391927 AL833724 
    BQ446463 CA396562 NM_052843 AB046776 AJ002535 AL708839 BI488730 BE731455 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See OBSCN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OBSCN

    SOURCE GeneReport for Unigene cluster: Hs.656999
        SABiosciences Custom PCR Arrays for OBSCN
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for OBSCN
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OBSCN
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OBSCN
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OBSCN gene from 5/10 species (see all 10)    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 65.74(n)1
    59.04(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 54.66(n)
    45.2(a)
      420395  XM_418501.3  XP_418501.3 
    lizard
    (Anolis carolinensis)
    Reptilia OBSCN6
    obscurin, cytoskeletal calmodulin and titin-intera...
    50(a)
    1 ↔ 1
    6(2933697-3125588)
    zebrafish
    (Danio rerio)
    Actinopterygii obscn1 obscurin, cytoskeletal calmodulin and titin-interacting more 50.42(n)
    42.34(a)
      445358  XM_001341169.4  XP_001341205.4 
    worm
    (Caenorhabditis elegans)
    Secernentea him-46
    Protein HIM-4, isoform d
    8(a)
    1 → many
    X(9717626-9753764)


    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)
    About This Section
    Paralogs for OBSCN gene
    MYOT2  MYPN2  PALLD2  OBSL12  
    18/57 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4886 SNPs in OBSCN are shown (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--------
    VAR_0422944
    ----see VAR_0422942 E Q mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 3 diseases for OBSCN:    About MalaCards
    leiomyosarcoma    gastrointestinal stromal tumor    hypertrophic cardiomyopathy


    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)
    About This Section

    PubMed articles for OBSCN gene, integrated from 9 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. (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. (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. (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. (2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Complete human gene structure of obscurin: implications for isoform generation by differential splicing. (PubMed id 16625316)1, 2 Fukuzawa A.... Gautel M. (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. (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. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 84033 HGNC: 15719 AceView: OBSCN Ensembl:ENSG00000154358 euGenes: HUgn84033
    ECgene: OBSCN H-InvDB: OBSCN

    (According to HUGE)
    About This Section
    HUGE: KIAA1556 KIAA1639

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of OBSCN
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for OBSCN  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for OBSCN  
     OriGene qSTAR qPCR primer pairs in human, mouse for OBSCN   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for OBSCN   OriGene Custom Protein Services for OBSCN  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OBSCN
     QIAGEN SeqTarget long-range PCR primers for resequencing OBSCN
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OBSCN
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OBSCN
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OBSCN
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OBSCN
     GenScript Custom Purified and Recombinant Proteins Services for OBSCN GenScript cDNA clones with any tag delivered in your preferred vector for OBSCN
     GenScript Custom Assay Services for OBSCN GenScript Custom Superior Antibodies Services for OBSCN
     GenScript Custom overexpressing Cell Line Services for OBSCN CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in OBSCN promoter
     Search Chromatin IP Primers for OBSCN
     RT2 qPCR Primer Assay in human, mouse / rat OBSCN
     GNC Network for OBSCN
     SABiosciences Custom PCR Arrays for OBSCN
     Search Tocris compounds for OBSCN
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for OBSCN
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     OBSCN antibodies
     OBSCN proteins
     Antibodies for OBSCN
     See all of Abcam's Antibodies, Kits and Proteins for OBSCN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for OBSCN
     Antibodies for OBSCN
     ELISAs for OBSCN
     CLIAs for OBSCN
     Search LifeMap BioReagents cell lines for OBSCN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSCN
     SwitchGear 3'UTR luciferase reporter plasmids for OBSCN
     SwitchGear Promoter luciferase reporter plasmids for OBSCN
     Search ThermoFisher Antibodies for OBSCN
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OBSCN
     inGenious Targeting Laboratory - Custom generated mouse model solutions for OBSCN
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OBSCN
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression
     Search LSBio for Antibodies for OBSCN
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      OBSCN gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4