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Aliases for MYBPC1 Gene

Aliases for MYBPC1 Gene

  • Myosin Binding Protein C, Slow Type 2 3 5
  • C-Protein, Skeletal Muscle Slow Isoform 3 4
  • Myosin-Binding Protein C, Slow-Type 2 3
  • Slow MyBP-C 3 4
  • MYBPCS 3 4
  • Skeletal Muscle C-Protein 3
  • MYBPCC 3
  • LCCS4 3

External Ids for MYBPC1 Gene

Previous GeneCards Identifiers for MYBPC1 Gene

  • GC12P101122
  • GC12P101971
  • GC12P100491
  • GC12P099048

Summaries for MYBPC1 Gene

Entrez Gene Summary for MYBPC1 Gene

  • This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for MYBPC1 Gene

MYBPC1 (Myosin Binding Protein C, Slow Type) is a Protein Coding gene. Diseases associated with MYBPC1 include Arthrogryposis, Distal, Type 1B and Lethal Congenital Contracture Syndrome 4. Among its related pathways are Striated Muscle Contraction and Cardiac conduction. GO annotations related to this gene include actin binding and titin binding. An important paralog of this gene is MYBPC3.

UniProtKB/Swiss-Prot for MYBPC1 Gene

  • Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

Gene Wiki entry for MYBPC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYBPC1 Gene

Genomics for MYBPC1 Gene

Regulatory Elements for MYBPC1 Gene

Enhancers for MYBPC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F101614 1.3 FANTOM5 Ensembl ENCODE 35.1 +49.3 49292 7.1 PKNOX1 MLX ARID4B DMAP1 SP5 JUNB PPARG KAT8 MIER3 ATF4 MYBPC1 CHPT1 RNU6-101P SYCP3 LOC105369936 LOC105369938
GH12F101594 0.8 ENCODE 10.9 +26.4 26425 0.2 PBX2 PRDM1 CHPT1 MYBPC1 SYCP3 LOC105369938
GH12F101595 0.6 ENCODE 10.9 +26.1 26124 0.3 MYBPC1 SYCP3 CHPT1 LOC105369938
GH12F101606 0.4 ENCODE 10.6 +40.2 40164 3.3 PKNOX1 ATF1 MLX ARID4B DMAP1 SP5 NFYC MIER2 PPARG KAT8 CHPT1 MYBPC1 RNU6-101P SYCP3 LOC105369936 LOC105369938
GH12F101628 0.5 ENCODE 10.3 +60.5 60458 1.4 RNF2 ADNP HLF CEBPG CHPT1 SYCP3 MYBPC1 GC12P101636 LOC105369938
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MYBPC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYBPC1 Gene

Chromosome:
12
Start:
101,568,353 bp from pter
End:
101,686,018 bp from pter
Size:
117,666 bases
Orientation:
Plus strand

Genomic View for MYBPC1 Gene

Genes around MYBPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYBPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYBPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYBPC1 Gene

Proteins for MYBPC1 Gene

  • Protein details for MYBPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00872-MYPC1_HUMAN
    Recommended name:
    Myosin-binding protein C, slow-type
    Protein Accession:
    Q00872
    Secondary Accessions:
    • B4DKR5
    • B7Z8G8
    • B7ZL02
    • B7ZL09
    • B7ZL10
    • E7ESM5
    • E7EWS6
    • G3XAE8
    • Q15497
    • Q17RR7
    • Q569K7
    • Q86T48
    • Q86TC8
    • Q8N3L2

    Protein attributes for MYBPC1 Gene

    Size:
    1141 amino acids
    Molecular mass:
    128294 Da
    Quaternary structure:
    • Interacts with USP25 (isoform USP25m only); the interaction prevents proteasomal degradation of MYBPC1.

    Three dimensional structures from OCA and Proteopedia for MYBPC1 Gene

    Alternative splice isoforms for MYBPC1 Gene

neXtProt entry for MYBPC1 Gene

Post-translational modifications for MYBPC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for MYBPC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for MYBPC1

No data available for DME Specific Peptides for MYBPC1 Gene

Domains & Families for MYBPC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q00872

UniProtKB/Swiss-Prot:

MYPC1_HUMAN :
  • Contains 3 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. MyBP family.
Domain:
  • Contains 3 fibronectin type-III domains.
  • Contains 7 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.
genes like me logo Genes that share domains with MYBPC1: view

Function for MYBPC1 Gene

Molecular function for MYBPC1 Gene

GENATLAS Biochemistry:
myosin,and titin binding protein C,skeletal muscle,slow type,expressed in the A band of sarcomeres
UniProtKB/Swiss-Prot Function:
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

Gene Ontology (GO) - Molecular Function for MYBPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 23414517
GO:0008307 structural constituent of muscle TAS 8375400
GO:0031432 titin binding ISS 1429890
genes like me logo Genes that share ontologies with MYBPC1: view
genes like me logo Genes that share phenotypes with MYBPC1: view

Human Phenotype Ontology for MYBPC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MYBPC1 Gene

miRTarBase miRNAs that target MYBPC1

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MYBPC1 Gene

Localization for MYBPC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYBPC1 Gene COMPARTMENTS Subcellular localization image for MYBPC1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MYBPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030016 myofibril ISS 1429890
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYBPC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYBPC1 Gene

Pathways & Interactions for MYBPC1 Gene

genes like me logo Genes that share pathways with MYBPC1: view

Pathways by source for MYBPC1 Gene

1 BioSystems pathway for MYBPC1 Gene
2 Reactome pathways for MYBPC1 Gene

Gene Ontology (GO) - Biological Process for MYBPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IEA --
GO:0007155 cell adhesion IEA --
GO:0030049 muscle filament sliding TAS --
GO:1903955 positive regulation of protein targeting to mitochondrion IMP 24270810
genes like me logo Genes that share ontologies with MYBPC1: view

No data available for SIGNOR curated interactions for MYBPC1 Gene

Drugs & Compounds for MYBPC1 Gene

(3) Drugs for MYBPC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MYBPC1: view

Transcripts for MYBPC1 Gene

Unigene Clusters for MYBPC1 Gene

Myosin binding protein C, slow type:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10: - - - - - - -
SP11:
SP12:
SP13:
SP14:

ExUns: 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35a · 35b
SP1: - - - - - -
SP2: - - - - - - - - - - - - - - - - - - - - -
SP3: - - -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for MYBPC1 Gene

GeneLoc Exon Structure for
MYBPC1
ECgene alternative splicing isoforms for
MYBPC1

Expression for MYBPC1 Gene

mRNA expression in normal human tissues for MYBPC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYBPC1 Gene

This gene is overexpressed in Muscle - Skeletal (x50.0).

Protein differential expression in normal tissues from HIPED for MYBPC1 Gene

This gene is overexpressed in Tonsil (37.6) and Esophagus (30.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYBPC1 Gene



Protein tissue co-expression partners for MYBPC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYBPC1 Gene:

MYBPC1

SOURCE GeneReport for Unigene cluster for MYBPC1 Gene:

Hs.654589
genes like me logo Genes that share expression patterns with MYBPC1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MYBPC1 Gene

Orthologs for MYBPC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYBPC1 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia MYBPC1 34 35
  • 91.24 (n)
cow
(Bos Taurus)
Mammalia MYBPC1 34 35
  • 89.92 (n)
oppossum
(Monodelphis domestica)
Mammalia MYBPC1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybpc1 34 16 35
  • 87.65 (n)
rat
(Rattus norvegicus)
Mammalia Mybpc1 34
  • 86.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYBPC1 34 35
  • 76.06 (n)
lizard
(Anolis carolinensis)
Reptilia MYBPC1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mybpc1 34
  • 71.49 (n)
zebrafish
(Danio rerio)
Actinopterygii mybpc1 34 35
  • 66.7 (n)
Dr.19582 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToMany
Species where no ortholog for MYBPC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYBPC1 Gene

ENSEMBL:
Gene Tree for MYBPC1 (if available)
TreeFam:
Gene Tree for MYBPC1 (if available)

Paralogs for MYBPC1 Gene

Paralogs for MYBPC1 Gene

genes like me logo Genes that share paralogs with MYBPC1: view

Variants for MYBPC1 Gene

Sequence variations from dbSNP and Humsavar for MYBPC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs387906657 Arthrogryposis, distal, 1B (DA1B) [MIM:614335], Pathogenic 101,642,459(+) ACGTA(C/T)GGGAG reference, missense
rs387906658 Arthrogryposis, distal, 1B (DA1B) [MIM:614335], Pathogenic 101,670,362(+) AAACC(C/T)ATATC reference, missense
VAR_075219 Arthrogryposis, distal, 1B (DA1B) [MIM:614335]
rs397515422 Pathogenic 101,644,783(+) AAATT(C/T)GACCC reference, stop-gained
rs140667525 Likely benign 101,631,701(+) GAAAC(C/T)TTTGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for MYBPC1 Gene

Variant ID Type Subtype PubMed ID
dgv511e212 CNV loss 25503493
esv3580436 CNV loss 25503493
esv3580440 CNV loss 25503493
esv3630578 CNV loss 21293372
nsv832497 CNV gain 17160897
nsv976025 CNV duplication 23825009

Variation tolerance for MYBPC1 Gene

Residual Variation Intolerance Score: 4.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.26; 81.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYBPC1 Gene

Human Gene Mutation Database (HGMD)
MYBPC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYBPC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYBPC1 Gene

Disorders for MYBPC1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MYBPC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 1b
  • da1b
lethal congenital contracture syndrome 4
  • lccs4
lethal congenital contractural syndrome 3
  • lethal congenital contracture syndrome 3
arthrogryposis multiplex congenita, distal, type 1
  • arthrogryposis multiplex congenita
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MYPC1_HUMAN
  • Arthrogryposis, distal, 1B (DA1B) [MIM:614335]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. {ECO:0000269 PubMed:20045868, ECO:0000269 PubMed:26661508}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lethal congenital contracture syndrome 4 (LCCS4) [MIM:614915]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269 PubMed:22610851}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYBPC1

Genetic Association Database (GAD)
MYBPC1
Human Genome Epidemiology (HuGE) Navigator
MYBPC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYBPC1
genes like me logo Genes that share disorders with MYBPC1: view

No data available for Genatlas for MYBPC1 Gene

Publications for MYBPC1 Gene

  1. Complete sequence of human fast-type and slow-type muscle myosin- binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. (PMID: 8375400) Weber F.E. … Fischman D.A. (Eur. J. Biochem. 1993) 2 3 4 22 64
  2. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (PMID: 22610851) Markus B. … Birk O.S. (Hum. Mutat. 2012) 3 4 64
  3. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. (PMID: 20045868) Gurnett C.A. … Dobbs M.B. (Hum. Mol. Genet. 2010) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for MYBPC1 Gene

Sources for MYBPC1 Gene

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