ENSG00000134571


Homo sapiens

Features
Gene ID: ENSG00000134571
  
Biological name :MYBPC3
  
Synonyms : MYBPC3 / myosin binding protein C, cardiac / Q14896
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p11.2
Gene start: 47331397
Gene end: 47352702
  
Corresponding Affymetrix probe sets: 208040_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000256993
Ensembl peptide - ENSP00000444259
Ensembl peptide - ENSP00000442795
Ensembl peptide - ENSP00000382193
NCBI entrez gene - 4607     See in Manteia.
OMIM - 600958
RefSeq - NM_000256
RefSeq Peptide - NP_000247
swissprot - Q14896
swissprot - F5GZR4
swissprot - A0A0A0MQU5
swissprot - A8MXZ9
Ensembl - ENSG00000134571
  
Related genetic diseases (OMIM): 115197 - Cardiomyopathy, hypertrophic, 4, 115197
  615396 - Cardiomyopathy, dilated, 1MM, 615396
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mybpc3ENSDARG00000011615Danio rerio
 MYBPC3ENSGALG00000008148Gallus gallus
 Mybpc3ENSMUSG00000002100Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYBPC2 / Q14324 / myosin binding protein C, fast typeENSG0000008696749
MYBPC1 / Q00872 / myosin binding protein C, slow typeENSG0000019609145
IGSF22 / Q8N9C0 / immunoglobulin superfamily member 22ENSG0000017905724
IGFN1 / Q86VF2 / immunoglobulin-like and fibronectin type III domain containing 1ENSG0000016339523
MYBPH / Q13203 / myosin binding protein HENSG0000013305518
MYOM1 / P52179 / myomesin 1ENSG0000010160517
MYOM2 / P54296 / myomesin 2ENSG0000003644817
MYOM3 / Q5VTT5 / myomesin 3ENSG0000014266116
A2RUH7 / MYBPHL / myosin binding protein H likeENSG0000022198613


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003007 heart morphogenesis IMP
 biological_processGO:0006941 striated muscle contraction IBA
 biological_processGO:0006942 regulation of striated muscle contraction IEA
 biological_processGO:0007015 actin filament organization IBA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0030049 muscle filament sliding TAS
 biological_processGO:0032781 positive regulation of ATPase activity ISS
 biological_processGO:0032971 regulation of muscle filament sliding ISS
 biological_processGO:0045214 sarcomere organization IBA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IMP
 biological_processGO:0060048 cardiac muscle contraction IEA
 biological_processGO:0071688 striated muscle myosin thick filament assembly IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005863 striated muscle myosin thick filament IEA
 cellular_componentGO:0014705 C zone NAS
 cellular_componentGO:0030017 sarcomere IDA
 cellular_componentGO:0030018 Z disc IBA
 cellular_componentGO:0031430 M band IBA
 cellular_componentGO:0031672 A band IDA
 cellular_componentGO:0032982 myosin filament IEA
 cellular_componentGO:0097512 cardiac myofibril IDA
 molecular_functionGO:0001671 ATPase activator activity ISS
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008307 structural constituent of muscle IMP
 molecular_functionGO:0017022 myosin binding IDA
 molecular_functionGO:0031432 titin binding NAS
 molecular_functionGO:0032036 myosin heavy chain binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051015 actin filament binding IBA
 molecular_functionGO:0051371 muscle alpha-actinin binding IBA
 molecular_functionGO:0097493 structural molecule activity conferring elasticity IBA


Pathways (from Reactome)
Pathway description
Striated Muscle Contraction


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0030682 Left ventricular noncompaction "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708]
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111245 MYL2 / P10916 / myosin light chain 2  / complex
 ENSG00000133020 MYH8 / P13535 / myosin heavy chain 8  / complex / reaction
 ENSG00000160808 MYL3 / P08590 / myosin light chain 3  / complex
 ENSG00000198336 MYL4 / P12829 / myosin light chain 4  / complex
 ENSG00000109063 MYH3 / P11055 / myosin heavy chain 3  / complex / reaction
 ENSG00000197616 MYH6 / P13533 / myosin heavy chain 6  / complex / reaction
 ENSG00000168530 MYL1 / P05976 / myosin light chain 1  / complex
 ENSG00000155657 TTN / titin / Q8WZ42  / complex






 

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