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MYBPC3 myosin binding protein C3 [ Homo sapiens (human) ]

Gene ID: 4607, updated on 13-Jan-2020

Summary

Official Symbol
MYBPC3provided by HGNC
Official Full Name
myosin binding protein C3provided by HGNC
Primary source
HGNC:HGNC:7551
See related
Ensembl:ENSG00000134571 MIM:600958
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; cMyBP-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]
Expression
Restricted expression toward heart (RPKM 426.0) See more
Orthologs

Genomic context

See MYBPC3 in Genome Data Viewer
Location:
11p11.2
Exon count:
35
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 MADD antisense RNA 1 Neighboring gene MAP kinase activating death domain Neighboring gene Spi-1 proto-oncogene Neighboring gene microRNA 4487

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-11-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-12)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp779E1762

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myosin heavy chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein 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
 
positive regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
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
 
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 
cardiac myofibril IDA
Inferred from Direct Assay
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
 

General protein information

Preferred Names
myosin-binding protein C, cardiac-type
Names
C-protein, cardiac muscle isoform
myosin binding protein C, cardiac
truncated cardiac myosin-binding protein C

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    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 identical proteins and their annotated locations for NP_000247.2

    Status: REVIEWED

    Source sequence(s)
    AJ708511, AJ708699, AL691822, AU140784, DA563514, EF560722
    Consensus CDS
    CCDS53621.1
    UniProtKB/Swiss-Prot
    Q14896
    UniProtKB/TrEMBL
    A5YM48
    Related
    ENSP00000442795.1, ENST00000545968.6
    Conserved Domains (9) summary
    cd05748
    Location:9901062
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd05894
    Location:655768
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    smart00408
    Location:12001257
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:161256
    IG; Immunoglobulin
    smart00410
    Location:9811062
    IG_like; Immunoglobulin like
    cd00063
    Location:772862
    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
    I-set; Immunoglobulin I-set domain
    pfam00047
    Location:161245
    ig; Immunoglobulin domain
    cl11960
    Location:1589
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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