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MYBPC3

GENERAL INFORMATION

Gene name

 MYBPC3

Gene description

 Myosin binding protein C, cardiac

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (heart muscle)
GTEx:Tissue enriched (heart muscle)
FANTOM5:Tissue enriched (heart muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Highly selective cytoplasmic expression in heart myocytes.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA040147 , HPA043898
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (heart muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (heart muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (heart muscle)

GENE INFORMATION

Gene name

 MYBPC3 (HGNC Symbol)

Synonyms

 CMH4, FHC, MYBP-C

Description

 Myosin binding protein C, cardiac (HGNC Symbol)

Entrez gene 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]

Chromosome

 11

Cytoband

 p11.2

Chromosome location (bp)

 47331397 - 47352702

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000134571 (version 83.38)

Entrez gene

 4607

UniProt

 Q14896 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14896

Antibodypedia

 MYBPC3 antibodies

PROTEIN BROWSER
MYBPC3-001
MYBPC3-201
MYBPC3-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MYBPC3-001
ENSP00000442795
ENST00000545968
Q14896 [Direct mapping]
Myosin-binding protein C, cardiac-type
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Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001671 [ATPase activator activity]
GO:0002027 [regulation of heart rate]
GO:0003007 [heart morphogenesis]
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005863 [striated muscle myosin thick filament]
GO:0006936 [muscle contraction]
GO:0006942 [regulation of striated muscle contraction]
GO:0007155 [cell adhesion]
GO:0008016 [regulation of heart contraction]
GO:0008307 [structural constituent of muscle]
GO:0014705 [C zone]
GO:0017022 [myosin binding]
GO:0030016 [myofibril]
GO:0030017 [sarcomere]
GO:0030049 [muscle filament sliding]
GO:0031034 [myosin filament assembly]
GO:0031432 [titin binding]
GO:0031672 [A band]
GO:0032036 [myosin heavy chain binding]
GO:0032781 [positive regulation of ATPase activity]
GO:0032971 [regulation of muscle filament sliding]
GO:0042802 [identical protein binding]
GO:0045214 [sarcomere organization]
GO:0046872 [metal ion binding]
GO:0055010 [ventricular cardiac muscle tissue morphogenesis]
GO:0060048 [cardiac muscle contraction]
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 1274 aa
140.8 kDa 		No 0
MYBPC3-201
ENSP00000256993
ENST00000256993
A0A0A0MQU5 [Direct mapping]
Myosin-binding protein C, cardiac-type
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 1274 aa
140.7 kDa 		No 0
MYBPC3-202
ENSP00000382193
ENST00000399249
A8MXZ9 [Direct mapping]
Myosin-binding protein C, cardiac-type
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 1274 aa
140.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.