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FLASH GENE
Symbol MYBPC1 contributors: mct/npt - updated : 25-11-2016
HGNC name myosin binding protein C, slow type
HGNC id 7549
Corresponding disease
AMCD1B arthrogryposis multiplex congenita, distal, type 1B
LCCS4 lethal congenital contracture syndrome 4
Location 12q23.2      Physical location : 101.988.746 - 102.079.657
Synonym name
  • skeletal muscle C-protein
  • slow MyBP-C
  • Synonym symbol(s) MYBPCS, MYBPCC, sMyBP-C
    DNA
    TYPE functioning gene
    STRUCTURE 90.91 kb     32 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    MGC39520 12q23.2 hypothetical protein MGC39520 LOC387878 12 similar to ribosomal protein S4, X-linked KIAA0701 12q23.1-q23.3 similar to ribosomal protein S4, X-linked DKFZp434M0331 12q23.3 hypothetical protein DKFZp434M0331 ACTR6 12q23.3 actin-related protein 6 FLJ33505 12q23.3 hypothetical protein FLJ33505 FLJ10074 12q23.3 hypothetical protein FLJ10074 SLC17A8 12q23.3 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 NR1H4 12q21.3 nuclear receptor subfamily 1, group H, member 4 LOC283431 12q23.3 hypothetical protein LOC283431 PIGAP1 12q21 phosphatidylinositol glycan, class A, pseudogene 1 TMEM16D 12q23.3 transmembrane protein 16D (eight membrane-spanning domains) SLC5A8 12q23.3 solute carrier family 5 (iodide transporter), member 8 DRIM 12q23 down-regulated in metastasis ARL1 12q23.3 ADP-ribosylation factor-like 1 SPIC 12q23.3 likely ortholog of mouse Spi-C transcription factor (Spi-1/PU.1 related) MYBPC1 12q22-q23 myosin binding protein C, slow type CHPT1 12q11 choline phosphotransferase 1 SYCP3 12q24.2-q24.3 synaptonemal complex protein 3 MGC4170 12q23.3 synaptonemal complex protein 3 LOC387880 12 similar to 10 KD HEAT SHOCK PROTEIN, MITOCHONDRIAL (HSP10) (10 KD CHAPERONIN) (CPN10) FLJ11259 12q23.3 hypothetical protein FLJ11259 LOC390353 12 similar to ribosomal protein L9 CGI-116 12q23.3 CGI-116 protein Nup37 12q23.3 nucleoporin Nup37 FLJ20641 12q23.3 hypothetical protein FLJ20641 PMCH 12q23.1 pro-melanin-concentrating hormone IGF1 12q23.1 insulin-like growth factor 1 (somatomedin C) PAH 12q23.1 phenylalanine hydroxylase ASCL1 12q23.1 achaete-scute complex-like 1 (Drosophila) FLJ25323 12q23.3 FLJ25323 protein STAB2 12q33.3 stabilin 2 TU12B1-TY 12q22-q23.1 TU12B1-TY protein LOC253724 12q23.3 hypothetical LOC253724
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 - 3938 131.5 1171 - 2011 21426302
    31 - 3879 129 1148 - 2011 21426302
    30 - 3858 128.2 1141 - 2011 21426302
    29 - 3804 126.3 1123 - 2011 21426302
    27 - 3778 - 1139 - 2011 21426302
    28 - 3841 - 1120 - 2011 21426302
    29 - 3862 - 1127 - 2011 21426302
    29 - 3883 - 1134 - 2011 21426302
    30 - 3919 - 1146 - 2011 21426302
    29 - 3930 - 1173 - 2011 21426302
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
     mouthtongue  highly
     pharynx   highly
    Nervousbrain    
     spinal cord   highly
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in skeletal muscle during early fetal development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight Ig C2 domains
  • three fibronectin type III domains
  • N- and C_termini of MYBPC1 have distinct functions, which are regulated by differential splicing, and are compromized by the presence of missense point mutations linked to muscle disease
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Mybpc1
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • MYBP subfamily
  • CATEGORY motor/contractile , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text the A band of sarcomeres
    basic FUNCTION
  • may be playing a role in myofibril formation, that binds titin and myosin
  • may modulate muscle contraction or may play a more structural role
  • major myosin-associated protein in striated muscle that enhances the lateral association and stabilization of myosin thick filaments and regulates actomyosin
  • interactions
  • sarcomeric protein involved both in thick filament structure and in the regulation of contractility
  • potentially acting as an adaptor to connect the ATP consumer (myosin) and the regenerator (CKM) for efficient energy metabolism and homoeostasis
  • functions to modulate the formation of actomyosin cross-bridges, and to organize and stabilize sarcomeric A- and M-bands
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to myosin
  • binding to titin
  • binds to the LMM (light meromyosin) portion of the myosin rod via its C-terminal domain, C10
  • a new ligand of obscurin at the M-band is MYBPC1, suggesting that their interaction contributes to the assembly of M- and A-bands
  • CKM physically interact with the slow skeletal muscle-type MYBPC1 (CKM binds to the C-terminal domains of MYBPC1, which is also the binding site of myosin)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMCD1B , LCCS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    principal cause of HCM (hypertrophic cardiomyopathy)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS