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MYBPC1 Gene

protein-coding   GIFtS: 61
GCID: GC12P101971

Myosin Binding Protein C, Slow Type

(Previous names: myosin-binding protein C, slow-type)
  See MYBPC1-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
Myosin Binding Protein C, Slow Type1 2     C-Protein, Skeletal Muscle Slow Isoform2 3
Myosin-Binding Protein C, Slow-Type1 2     LCCS42 5
Slow MyBP-C2 3     MYBPCC2
MYBPCS2 3     Skeletal Muscle C-Protein2

External Ids:    HGNC: 75491   Entrez Gene: 46042   Ensembl: ENSG000001960917   OMIM: 1607945   UniProtKB: Q008723   

Export aliases for MYBPC1 gene to outside databases

Previous GC identifers: GC12P101122 GC12P100491 GC12P099048


(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 MYBPC1 Gene:
This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are
myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The
encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in
muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are
associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple
isoforms have been observed for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for MYBPC1 Gene:
MYBPC1 (myosin binding protein C, slow type) is a protein-coding gene. Diseases associated with MYBPC1 include lethal congenital contracture syndrome 4, and arthrogryposis, distal, type 1b. GO annotations related to this gene include actin binding and titin binding. An important paralog of this gene is MYOM1.

UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872
Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a
bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated
myosin ATPase. It may modulate muscle contraction or may play a more structural role

Gene Wiki entry for MYBPC1 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 at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYBPC1 gene promoter:
         Egr-3   TBP   STAT5B   AML1a   MEF-2   Nkx2-5   MEF-2A   PPAR-gamma1   TFIID   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYBPC1 promoter sequence
   Search Chromatin IP Primers for MYBPC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYBPC1


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

Entrez Gene cytogenetic band: 12q23.2   Ensembl cytogenetic band:  12q23.2   HGNC cytogenetic band: 12q23.2

MYBPC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYBPC1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P101971:  view genomic region     (about GC identifiers)

Start:
101,962,131 bp from pter      End:
102,079,796 bp from pter
Size:
117,666 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872 (See protein sequence)
Recommended Name: Myosin-binding protein C, slow-type  
Size: 1141 amino acids; 128294 Da
Subunit: Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1
Selected PDB 3D structures from and Proteopedia for MYBPC1 (see all 7):
1X44 (3D)        2DAV (3D)        2YUV (3D)        2YUW (3D)        2YUX (3D)        2YUZ (3D)    
Secondary accessions: B4DKR5 B7Z8G8 B7ZL02 B7ZL09 B7ZL10 E7ESM5 E7EWS6 G3XAE8 Q15497 Q17RR7
Q569K7 Q86T48 Q86TC8 Q8N3L2
Alternative splicing: 10 isoforms:  Q00872-1   Q00872-2   Q00872-3   Q00872-4   Q00872-5   Q00872-6   Q00872-7   Q00872-8   
Q00872-9   Q00872-10   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYBPC1: NX_Q00872

Explore proteomics data for MYBPC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYBPC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (10 alternative transcripts): 
    NP_001241647.1  NP_001241648.1  NP_001241649.1  NP_001241650.1  NP_001241651.1  NP_001241652.1  NP_002456.2  NP_996555.1  
    NP_996556.1  NP_996557.1  

    ENSEMBL proteins: 
     ENSP00000447404   ENSP00000448175   ENSP00000400908   ENSP00000376665   ENSP00000447362  
     ENSP00000354845   ENSP00000447660   ENSP00000447900   ENSP00000440034   ENSP00000446128  
     ENSP00000442847   ENSP00000354849   ENSP00000447116   ENSP00000449702   ENSP00000388989  
     ENSP00000353822  
    Reactome Protein details: Q00872

    MYBPC1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYBPC1

     
    Search eBioscience for Proteins for MYBPC1 

     
    antibodies-online proteins for MYBPC1 (3 products) 

     
    antibodies-online peptides for MYBPC1

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    antibodies-online antibodies for MYBPC1 (48 products) 

    MYBPC1 Assay Products:

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    antibodies-online kits for MYBPC1 (5 products) 


    (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
    MYBP: Myosin binding proteins

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q00872

    ProtoNet protein and cluster: Q00872

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872
    Similarity: Belongs to the immunoglobulin superfamily. MyBP family
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 7 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with MYBPC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYPC1_HUMAN, Q00872
    Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a
    bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated
    myosin ATPase. It may modulate muscle contraction or may play a more structural role

         Genatlas biochemistry entry for MYBPC1:
    myosin,and titin binding protein C,skeletal muscle,slow type,expressed in the A band of sarcomeres

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI--
    GO:0008307structural constituent of muscle TAS8375400
    GO:0031432titin binding ISS1429890
         
    Find genes that share ontologies with MYBPC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MYBPC1:
     Synthetic lethal with c-Myc af 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MYBPC1

    miRNA
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    miRTarBase miRNAs that target MYBPC1:
    hsa-mir-130b-5p (MIRT038283), hsa-mir-26b-5p (MIRT028918)

    Block miRNA regulation of human, mouse, rat MYBPC1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MYBPC1:
    hsa-miR-298 hsa-miR-1224-3p
    SwitchGear 3'UTR luciferase reporter plasmidMYBPC1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat MYBPC1

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    GenScript: all cDNA clones in your preferred vector (see all 4): MYBPC1 (NM_002465)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYBPC1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton3
    endoplasmic reticulum2
    mitochondrion2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030016myofibril ISS1429890
    GO:0032982myosin filament IEA--

    Find genes that share ontologies with MYBPC1           About GenesLikeMe


    (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 MYBPC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82


    Find genes that share SuperPaths with MYBPC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MYBPC1
        Striated Muscle Contraction

    1 Reactome Pathway for MYBPC1
        Striated Muscle Contraction


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MYBPC1
    Interactions:

        GeneGlobe Interaction Network for MYBPC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYBPC1 (Q008721, 3 ENSP000003548494) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    FHL1Q136423, ENSP000003597244I2D: score=2 STRING: ENSP00000359724
    MYBPC2Q143241, ENSP000003503324EBI-5652924,EBI-5653200 STRING: ENSP00000350332
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction ----
    GO:0007155cell adhesion IEA--
    GO:0030049muscle filament sliding TAS--

    Find genes that share ontologies with MYBPC1           About GenesLikeMe



    (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 MYBPC1 (MYPC1)

    3 Novoseek inferred chemical compound relationships for MYBPC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 0 1 12767664 (1)
    calcium 0 1 19655190 (1)
    isoproterenol 0 1 11179196 (1)



    Find genes that share compounds with MYBPC1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYBPC1 gene (10 alternative transcripts): 
    NM_001254718.1  NM_001254719.1  NM_001254720.1  NM_001254721.1  NM_001254722.1  NM_001254723.1  NM_002465.3  NM_206819.2  
    NM_206820.2  NM_206821.2  

    Unigene Cluster for MYBPC1:

    Myosin binding protein C, slow type
    Hs.654589  [show with all ESTs]
    Unigene Representative Sequence: NM_002465
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000550514 ENST00000547405 ENST00000452455 ENST00000547627 ENST00000392934
    ENST00000547509 ENST00000361685(uc001tif.2 uc001tig.3) ENST00000550501
    ENST00000549145(uc010svq.2) ENST00000553190 ENST00000545503 ENST00000536007
    ENST00000541119 ENST00000361466(uc001tih.3) ENST00000551300 ENST00000550270
    ENST00000552198 ENST00000550312
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    2 qRT-PCR Assays for microRNAs that regulate MYBPC1:
    hsa-miR-298 hsa-miR-1224-3p
    SwitchGear 3'UTR luciferase reporter plasmidMYBPC1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat MYBPC1

    Additional mRNA sequence: 

    AK056587.1 AK292976.1 AK295727.1 AK296681.1 AK303401.1 AL831993.2 AL832000.2 AL832332.2 
    AL832350.2 AL832354.2 AL832456.2 AL834249.2 BC015187.1 BC030980.1 BC065720.1 BC092418.1 
    BC117217.1 BC143495.1 BC143502.1 BC143503.1 BC143504.1 BX649073.2 X66276.1 X73114.1 

    Selected DOTS entries (see all 29):

    DT.102831905  DT.95111148  DT.119180  DT.121120307  DT.91771299  DT.100828737  DT.91771311  DT.100828740 
    DT.91771301  DT.95111158  DT.100828739  DT.121120319  DT.121120356  DT.95111140  DT.97786988  DT.100669522 
    DT.121120325  DT.121120329  DT.91982975  DT.95284364  DT.100828738  DT.40116572  DT.75198509  DT.91948362 

    Selected AceView cDNA sequences (see all 417):

    AL596818 F29539 AL598948 CR609402 BQ949769 AA112818 F20624 BQ953803 
    F30877 F16251 AJ572664 F30201 F29090 AL598938 F28536 F32574 
    AA640428 AL589594 F23360 AJ573873 F12930 AL589595 NM_002465 F21429 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC1 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
    SP1:                    -           -     -     -     -                                               -                                                         
    SP2:                    -           -           -     -                                               -                                         -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                            -     -                                                                                                         
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b
    SP1:        -                                   -     -     -                                                                       -     -                     
    SP2:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -     -                     
    SP3:                                                                                                                                -     -     -               
    SP4:                                                                                                                                                            
    SP5:                                            -     -                                                                                                         


    ECgene alternative splicing isoforms for MYBPC1

    (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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    MYBPC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACTCAGC
    MYBPC1 Expression
    About this image


    MYBPC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Heart (Cardiovascular System)
             Outflow Tract
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Bone (Muscoskeletal System)
             Zeugopod Long Bone
    MYBPC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYBPC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654589
        Custom PCR Arrays for MYBPC1
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    (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 chordates.

    Orthologs for MYBPC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mybpc11 , 5 myosin binding protein C, slow-type1, 5 87.65(n)1
    92.07(a)1
      10 (43.99 cM)5
    1092721  NM_175418.51  NP_780627.21 
     885182795 
    chicken
    (Gallus gallus)
    Aves MYBPC11 myosin binding protein C, slow type 76.06(n)
    78.77(a)
      418099  XM_004937841.1  XP_004937898.1 
    lizard
    (Anolis carolinensis)
    Reptilia MYBPC16
    myosin binding protein C, slow type
    74(a)
    1 ↔ 1
    5(17238676-17339693)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mybpc11 myosin binding protein C, slow type 71.49(n)
    75.94(a)
      100487880  XM_004912894.1  XP_004912951.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195822 Transcribed sequence with moderate similarity to protein more 75.34(n)    CK142448.1 


    ENSEMBL Gene Tree for MYBPC1 (if available)
    TreeFam Gene Tree for MYBPC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYBPC1 gene
    MYOM12  IGSF222  MYBPH2  IGFN12  MYBPC22  MYBPC32  MYBPHL2  MYOM32  
    MYOM22  
    10 SIMAP similar genes for MYBPC1 using alignment to 7 protein entries:     MYPC1_HUMAN (see all proteins):
    DKFZp779M1050    DKFZp451E186    DKFZp451B236    DKFZp451H115    DKFZp451M091    MYBPHL
    MYBPH    MYBPC2    MYBPC3    MUSK

    Find genes that share paralogs with MYBPC1           About GenesLikeMe



    (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 MYBPC1 (see all 2325)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0670454
    Arthrogryposis, distal, 1B (DA1B)4--see VAR_0670452 W R mis40--------
    VAR_0670464
    Arthrogryposis, distal, 1B (DA1B)4--see VAR_0670462 Y H mis40--------
    rs2010527491,2
    C--99064348(+) CTTTT-/C/TCGTAG 10 -- int10--------
    rs3706903161,2
    C--99065920(+) AAAGA-/A/AA  
            
    AAAAA
    10 -- int10--------
    rs2003207481,2
    --99069495(+) CCCCG-/CCCCCCC 10 -- int10--------
    rs1379359121,2
    --99069500(+) CCCCC-/CACCCCG 10 -- int10--------
    rs2014683971,2
    --99069502(+) CCCCC-/CCCG  
            
    CCCCC
    10 -- int10--------
    rs1996469811,2
    --99069503(+) CCCCC-/CCGCCCCC 10 -- int10--------
    rs72986461,2
    C--99069505(+) CCCCCA/C/GCCCCC 10 -- int10--------
    rs753771481,2
    C--99069505(+) CCCCC-/G/GCCC
            
    CCCCA
    10 -- int10--------

    HapMap Linkage Disequilibrium report for MYBPC1 (101962131 - 102079796 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MYBPC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832497CNV Gain17160897

    Human Gene Mutation Database (HGMD): MYBPC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYBPC1
    DNA2.0 Custom Variant and Variant Library Synthesis for MYBPC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 160794   
    OMIM disorders: 614335  614915  
    UniProtKB/Swiss-Prot: MYPC1_HUMAN, Q00872
  • Arthrogryposis, distal, 1B (DA1B) [MIM:614335]: A form of distal arthrogryposis, a disease characterized
    by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a
    primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly
    and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are
    less frequently affected. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Lethal congenital contracture syndrome 4 (LCCS4) [MIM:614915]: A form of lethal congenital contracture
    syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme
    skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper
    or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations
    evident at birth. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for MYBPC1:    
    About MalaCards
    lethal congenital contracture syndrome 4    arthrogryposis, distal, type 1b    lethal congenital contractural syndrome 3    arthrogryposis multiplex congenita distal type 1
    distal arthrogryposis    congenital contractures

    1 disease from the University of Copenhagen DISEASES database for MYBPC1:
    Distal arthrogryposis

    Find genes that share disorders with MYBPC1           About GenesLikeMe

    5 Novoseek inferred disease relationships for MYBPC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiomyopathy 57.6 3 15631686 (1), 10405155 (1)
    dilated cardiomyopathy 55.9 1 18957093 (1)
    hypertrophy 50.9 1 15823648 (1)
    cardiac hypertrophy 48 1 10806915 (1)
    heart diseases 33.7 3 8791411 (1), 19140019 (1)

    Genetic Association Database (GAD): MYBPC1
    Human Genome Epidemiology (HuGE) Navigator: MYBPC1 (4 documents)

    Export disorders for MYBPC1 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 MYBPC1 gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with MYBPC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequence of human fast-type and slow-type muscle myosin- binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. (PubMed id 8375400)1, 2, 3, 9 Weber F.E.... Fischman D.A. (Eur. J. Biochem. 1993)
    2. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (PubMed id 22610851)1, 2 Markus B.... Birk O.S. (Hum. Mutat. 2012)
    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. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (PubMed id 20045868)1, 2 Gurnett C.A.... Dobbs M.B. (Hum. Mol. Genet. 2010)
    6. Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod. (PubMed id 16918501)1, 3 Flashman E....Redwood C. (Biochem. J. 2007)
    7. The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins. (PubMed id 16501887)1, 2 Bosch-Comas A....Marfany G. (Cell. Mol. Life Sci. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA. (PubMed id 1429890)1, 2 Fuerst D.O.... Weber K. (J. Cell Sci. 1992)
    10. The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PubMed id 12154082)1, 9 Welikson R.E. and Fischman D.A. (J. Cell. Sci. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4604 HGNC: 7549 AceView: MYBPC1 Ensembl:ENSG00000196091 euGenes: HUgn4604
    ECgene: MYBPC1 H-InvDB: MYBPC1

    (According to HUGE)
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      --

    (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 MYBPC1 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 MYBPC1 gene:
    Search GeneIP for patents involving MYBPC1

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



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