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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 Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and titin binding. An important paralog of this gene is MYBPC2.

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

Additional gene information for MYBPC1 Gene

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

Genomics for MYBPC1 Gene

GeneHancer (GH) Regulatory Elements for MYBPC1 Gene

Promoters and enhancers for MYBPC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I101594 Promoter/Enhancer 1 EPDnew dbSUPER 560.9 +26.6 26599 0.1 MEIS2 PKNOX1 PRDM1 ZBTB17 MYBPC1 SYCP3 CHPT1 LOC105369938
GH12I101567 Enhancer 0.4 ENCODE dbSUPER 550.8 -0.3 -335 1.1 MYBPC1 LOC105369935
GH12I101614 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 35.1 +48.7 48731 6 PKNOX1 FOXA2 MLX ARID4B DMAP1 ATF7 RXRA SP5 PPARG KAT8 LOC105369938 MYBPC1 CHPT1 RNU6-101P SYCP3 LOC105369936
GH12I101606 Enhancer 1.1 ENCODE dbSUPER 10.6 +40.2 40164 3.3 PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 DMAP1 ETS1 ATF7 SP5 CHPT1 MYBPC1 RNU6-101P SYCP3 LOC105369936 LOC105369938
GH12I101653 Enhancer 0.8 ENCODE 10.3 +85.2 85226 1 HDAC1 ELF3 FOXA2 ZSCAN9 RARA TCF12 CREM MIXL1 PPARG KAT8 LOC105369936 CHPT1 SYCP3 MYBPC1 GC12P101636
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYBPC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYBPC1 gene promoter:

Genomic Locations for MYBPC1 Gene

Genomic Locations for MYBPC1 Gene
chr12:101,568,353-101,686,018
(GRCh38/hg38)
Size:
117,666 bases
Orientation:
Plus strand
chr12:101,962,131-102,079,796
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for MYBPC1 Gene

Domains & Families for MYBPC1 Gene

Gene Families for MYBPC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q00872

UniProtKB/Swiss-Prot:

MYPC1_HUMAN :
  • Belongs to the immunoglobulin superfamily. MyBP family.
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.

Phenotypes From GWAS Catalog for MYBPC1 Gene

Gene Ontology (GO) - Molecular Function for MYBPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23414517
GO:0008307 structural constituent of muscle TAS 8375400
GO:0031432 titin binding ISS 1429890
GO:0051015 actin filament binding IBA --
GO:0051371 muscle alpha-actinin binding IBA --
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

CRISPR Products

miRNA for MYBPC1 Gene

miRTarBase miRNAs that target MYBPC1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005859 muscle myosin complex IBA --
GO:0030016 myofibril ISS 1429890
GO:0030018 Z disc IBA --
GO:0031430 M band IBA --
genes like me logo Genes that share ontologies with MYBPC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) 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:0006941 striated muscle contraction IBA --
GO:0007015 actin filament organization IBA --
GO:0007155 cell adhesion IEA --
GO:0030049 muscle filament sliding TAS --
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:

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for MYBPC1 Gene

  • Muscle(5)
  • Nervous system(4.8)
  • Liver(4)
  • Pancreas(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYBPC1 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Thorax:
  • lung
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
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 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPC1 34 33
  • 91.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYBPC1 33 34
  • 89.92 (n)
oppossum
(Monodelphis domestica)
Mammalia MYBPC1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybpc1 16 34 33
  • 87.65 (n)
rat
(Rattus norvegicus)
Mammalia Mybpc1 33
  • 86.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYBPC1 33 34
  • 76.06 (n)
lizard
(Anolis carolinensis)
Reptilia MYBPC1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mybpc1 33
  • 71.49 (n)
zebrafish
(Danio rerio)
Actinopterygii mybpc1 33 34
  • 66.7 (n)
Dr.19582 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs11110952 benign, not specified, Distal arthrogryposis 101,673,634(+) T/A/C/G intron_variant
rs112788142 benign, Distal arthrogryposis, not provided 101,632,147(+) G/A intron_variant
rs138048478 likely-benign, Distal arthrogryposis 101,649,313(+) G/A coding_sequence_variant, missense_variant
rs139605474 likely-benign, Distal arthrogryposis 101,651,324(+) C/A coding_sequence_variant, missense_variant
rs140667525 likely-benign, not specified, Distal arthrogryposis 101,631,701(+) C/A/T coding_sequence_variant, synonymous_variant

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

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

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for MYBPC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 FE … Fischman DA (European journal of biochemistry 1993) 2 3 4 22 58
  2. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. (PMID: 26661508) Ekhilevitch N … Baris HN (Clinical genetics 2016) 3 4 58
  3. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (PMID: 22610851) Markus B … Birk OS (Human mutation 2012) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for MYBPC1 Gene

Sources for MYBPC1 Gene

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