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MYBPC3 myosin binding protein C, cardiac [ Homo sapiens (human) ]

Gene ID: 4607, updated on 21-Jul-2014
Official Symbol
MYBPC3provided by HGNC
Official Full Name
myosin binding protein C, cardiacprovided by HGNC
Primary source
HGNC:7551
See related
Ensembl:ENSG00000134571; HPRD:02980; MIM:600958; Vega:OTTHUMG00000166986
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHC; CMH4; CMD1MM; LVNC10; MYBP-C
Summary
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
See MYBPC3 in Epigenomics, MapViewer
Location:
11p11.2
Exon count :
35
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (47331406..47352702, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47352957..47374253, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene acid phosphatase 2, lysosomal Neighboring gene nuclear receptor subfamily 1, group H, member 3 Neighboring gene MAP-kinase activating death domain Neighboring gene Spi-1 proto-oncogene Neighboring gene microRNA 4487

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYBPC3 that are pathogenic or expected to be pathogenic.

GuidelinePubMed
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
myosin binding IDA
Inferred from Direct Assay
more info
PubMed 
myosin heavy chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
titin binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
myosin filament assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of heart rate IEA
Inferred from Electronic Annotation
more info
 
regulation of muscle filament sliding ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of striated muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcomere organization IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
A band IDA
Inferred from Direct Assay
more info
PubMed 
C zone NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
sarcomere IDA
Inferred from Direct Assay
more info
PubMed 
striated muscle myosin thick filament IDA
Inferred from Direct Assay
more info
PubMed 
striated muscle myosin thick filament ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
myosin-binding protein C, cardiac-type
Names
myosin-binding protein C, cardiac-type
C-protein, cardiac muscle isoform

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007667.1 

    Range
    5001..26297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_386

mRNA and Protein(s)

  1. NM_000256.3NP_000247.2  myosin-binding protein C, cardiac-type

    See proteins identical to NP_000247.2

    Status: REVIEWED

    Source sequence(s)
    AJ708511, AJ708699, AL691822, AU140784, DA563514, EF560722
    Consensus CDS
    CCDS53621.1
    UniProtKB/TrEMBL
    A5YM48
    UniProtKB/Swiss-Prot
    Q14896
    Related
    ENSP00000442795, OTTHUMP00000234664, ENST00000545968, OTTHUMT00000392271
    Conserved Domains (7) summary
    cd00096
    Location:11981265
    Blast Score: 140
    Ig; Immunoglobulin domain
    cd05748
    Location:9901062
    Blast Score: 212
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd05894
    Location:655768
    Blast Score: 377
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    smart00410
    Location:9811062
    Blast Score: 146
    IG_like; Immunoglobulin like
    cd00063
    Location:772862
    Blast Score: 213
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:11811270
    Blast Score: 241
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:1589
    Blast Score: 110
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    47331406..47352702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718238.1XP_006718301.1  

    Conserved Domains (7) summary
    cd00096
    Location:11921259
    Blast Score: 140
    Ig; Immunoglobulin domain
    cd05748
    Location:9841056
    Blast Score: 212
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd05894
    Location:649762
    Blast Score: 377
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    smart00410
    Location:9751056
    Blast Score: 146
    IG_like; Immunoglobulin like
    cd00063
    Location:766856
    Blast Score: 213
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:11751264
    Blast Score: 241
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:1589
    Blast Score: 110
    Ig; Immunoglobulin domain

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    47052045..47073383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    47352197..47373500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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