U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    MYBPC1 myosin binding protein C1 [ Homo sapiens (human) ]

    Gene ID: 4604, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MYBPC1provided by HGNC
    Official Full Name
    myosin binding protein C1provided by HGNC
    Primary source
    HGNC:HGNC:7549
    See related
    Ensembl:ENSG00000196091 MIM:160794; AllianceGenome:HGNC:7549
    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
    LCCS4; CMYO16; CMYP16; MYBPCC; MYBPCS; MYOTREM; ssMyBP-C
    Summary
    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]
    Expression
    Biased expression in prostate (RPKM 75.7), esophagus (RPKM 49.2) and 1 other tissue See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MYBPC1 in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101594971..101695841)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101556082..101657067)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (101988749..102079806)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Spi-C transcription factor Neighboring gene uncharacterized LOC105369935 Neighboring gene Sharpr-MPRA regulatory region 598 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:101974951-101975478 Neighboring gene uncharacterized LOC105369938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4768 Neighboring gene uncharacterized LOC105369937 Neighboring gene uncharacterized LOC124902996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4770 Neighboring gene choline phosphotransferase 1 Neighboring gene RNY1 pseudogene 16 Neighboring gene synaptonemal complex protein 3

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. Stavusis J, et al. Ann Neurol, 2019 Jul. PMID 31025394, Free PMC Article
    2. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Markus B, et al. Hum Mutat, 2012 Oct. PMID 22610851
    3. MYBPC1 computational phosphoprotein network construction and analysis between frontal cortex of HIV encephalitis (HIVE) and HIVE-control patients. Wang L, et al. Cell Mol Neurobiol, 2011 Mar. PMID 21061152
    4. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Gurnett CA, et al. Hum Mol Genet, 2010 Apr 1. PMID 20045868, Free PMC Article
    5. Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. Li X, et al. PLoS One, 2015. PMID 25679999, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Congenital tremor and myopathy secondary to novel MYBPC1 variant.
      Title: Congenital tremor and myopathy secondary to novel MYBPC1 variant.
    2. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
      Title: A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
    3. MYBPC1 is a key regulator for laryngeal carcinoma formation.
      Title: MYBPC1 is a key regulator for laryngeal carcinoma formation.
    4. Data substantiate that damaging variants in MYBPC1 are associated with a new form of an early-onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis.
      Title: Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
    5. Two novel missense mutations in MYBPC1 were linked to a dominant, mild skeletal myopathy associated with a distinctive tremor.
      Title: Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
    6. A novel milder MYBPC1 homozygous phenotype causes arthrogryposis multiplex congenita in a consanguineous Israeli Druze pedigree.
      Title: Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    7. Ca(2+) modulates the interaction of cMyBP-C with the thin filament in the sarcomere.
      Title: C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation.
    8. Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 were both found to occur in the C2 immunoglobulin domain, which constitutes part of the binding site for the S2 subfragment of myosin.
      Title: Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
    9. Mutations in the MYH7 gene, rather than in the MYBPC3 gene, were also related to a worse prognosis. This is the first work characterizing HC molecular epidemiology in the Brazilian population for the 3 most important genes.
      Title: Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.
    10. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
      Title: Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Arthrogryposis, distal, type 1B
    MedGen: C3280526 OMIM: 614335 GeneReviews: Not available
    		not available
    Lethal congenital contracture syndrome 4
    MedGen: C3554046 OMIM: 614915 GeneReviews: Not available
    		not available
    Myopathy, congenital, with tremor
    MedGen: C5231401 OMIM: 618524 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables titin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in myofibril ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in myosin filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    myosin-binding protein C, slow-type
    Names
    myosin binding protein C, slow type
    skeletal muscle C-protein
    slow MyBP-C
    slow skeletal-type muscle myosin-binding-protein C

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_031912.2 RefSeqGene

      Range
      5002..96059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001254718.3 → NP_001241647.1  myosin-binding protein C, slow-type isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three exons and includes an alternate exon in the coding region, compared to variant 1. The encoded isoform (5) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS58268.1
      UniProtKB/TrEMBL
      F8VZY0
      Related
      ENSP00000400908.2, ENST00000452455.6
      Conserved Domains (7) summary
      cd00096
      Location:1064 → 1129
      Ig; Immunoglobulin domain
      cd05894
      Location:531 → 616
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:356 → 414
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:534 → 616
      IG_like; Immunoglobulin like
      cd00063
      Location:620 → 710
      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:1047 → 1136
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:857 → 928
      Ig; Immunoglobulin domain

    2. NM_001254719.3 → NP_001241648.1  myosin-binding protein C, slow-type isoform 6

      See identical proteins and their annotated locations for NP_001241648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS58269.1
      UniProtKB/TrEMBL
      F8VZE0
      Related
      ENSP00000440034.2, ENST00000545503.6
      Conserved Domains (7) summary
      cd00096
      Location:1046 → 1111
      Ig; Immunoglobulin domain
      cd05894
      Location:531 → 616
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:356 → 414
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:534 → 616
      IG_like; Immunoglobulin like
      cd00063
      Location:620 → 710
      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:1029 → 1118
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:839 → 910
      Ig; Immunoglobulin domain

    3. NM_001254720.3 → NP_001241649.1  myosin-binding protein C, slow-type isoform 7

      See identical proteins and their annotated locations for NP_001241649.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks three exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS58271.1
      UniProtKB/TrEMBL
      F8VZE0
      Related
      ENSP00000442847.1, ENST00000541119.5
      Conserved Domains (7) summary
      cd00096
      Location:1034 → 1099
      Ig; Immunoglobulin domain
      cd05894
      Location:519 → 604
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:344 → 402
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:522 → 604
      IG_like; Immunoglobulin like
      cd00063
      Location:608 → 698
      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:1017 → 1106
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:827 → 898
      Ig; Immunoglobulin domain

    4. NM_001254721.3 → NP_001241650.1  myosin-binding protein C, slow-type isoform 8

      See identical proteins and their annotated locations for NP_001241650.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (8) is shorter than isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS58270.1
      UniProtKB/TrEMBL
      F8VZE0
      Related
      ENSP00000446128.1, ENST00000536007.5
      Conserved Domains (7) summary
      cd00096
      Location:1027 → 1092
      Ig; Immunoglobulin domain
      cd05894
      Location:512 → 597
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:337 → 395
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:515 → 597
      IG_like; Immunoglobulin like
      cd00063
      Location:601 → 691
      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:1010 → 1099
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:820 → 891
      Ig; Immunoglobulin domain

    5. NM_001254722.3 → NP_001241651.1  myosin-binding protein C, slow-type isoform 9

      See identical proteins and their annotated locations for NP_001241651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks four consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (9) is shorter than isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS58273.1
      UniProtKB/TrEMBL
      F8VZE0
      Related
      ENSP00000448175.1, ENST00000547405.5
      Conserved Domains (7) summary
      cd00096
      Location:1020 → 1085
      Ig; Immunoglobulin domain
      cd05894
      Location:505 → 590
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:330 → 388
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:508 → 590
      IG_like; Immunoglobulin like
      cd00063
      Location:594 → 684
      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:1003 → 1092
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:813 → 884
      Ig; Immunoglobulin domain

    6. NM_001254723.3 → NP_001241652.1  myosin-binding protein C, slow-type isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks five exons in the coding region, compared to variant 1. The encoded isoform (10) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS58272.1
      UniProtKB/TrEMBL
      F8VZE0
      Related
      ENSP00000376665.3, ENST00000392934.7
      Conserved Domains (7) summary
      cd00096
      Location:1033 → 1098
      Ig; Immunoglobulin domain
      cd05894
      Location:518 → 603
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:343 → 401
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:521 → 603
      IG_like; Immunoglobulin like
      cd00063
      Location:607 → 697
      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:1016 → 1105
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:826 → 897
      Ig; Immunoglobulin domain

    7. NM_001404675.1 → NP_001391604.1  myosin-binding protein C, slow-type isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      Q86TA8

    8. NM_001404676.1 → NP_001391605.1  myosin-binding protein C, slow-type isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      F8VZE0

    9. NM_001404677.1 → NP_001391606.1  myosin-binding protein C, slow-type isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      F8VZE0

    10. NM_001404678.1 → NP_001391607.1  myosin-binding protein C, slow-type isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      A8KAB1, Q8N3R4

    11. NM_001404679.1 → NP_001391608.1  myosin-binding protein C, slow-type isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      F8VZE0

    12. NM_001404680.1 → NP_001391609.1  myosin-binding protein C, slow-type isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      F8VZE0
      Related
      ENSP00000447116.1, ENST00000551300.5

    13. NM_001404681.1 → NP_001391610.1  myosin-binding protein C, slow-type isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC010205, AC090671, AC117505
      UniProtKB/TrEMBL
      F8VZE0

    14. NM_002465.4 → NP_002456.2  myosin-binding protein C, slow-type isoform 1

      See identical proteins and their annotated locations for NP_002456.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC010205, AK295727, AL831993, AL832456, BC030980, DA433791
      Consensus CDS
      CCDS9083.1
      UniProtKB/TrEMBL
      Q86TA8
      Related
      ENSP00000354849.2, ENST00000361466.7
      Conserved Domains (7) summary
      cd00096
      Location:1071 → 1136
      Ig; Immunoglobulin domain
      cd05894
      Location:556 → 641
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:381 → 439
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:559 → 641
      IG_like; Immunoglobulin like
      cd00063
      Location:645 → 735
      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:1054 → 1143
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:864 → 935
      Ig; Immunoglobulin domain

    15. NM_206819.4 → NP_996555.1  myosin-binding protein C, slow-type isoform 2

      See identical proteins and their annotated locations for NP_996555.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. the encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS9084.1
      UniProtKB/TrEMBL
      A8KAB1, Q8N3R4
      Related
      ENSP00000354845.2, ENST00000361685.6
      Conserved Domains (7) summary
      cd00096
      Location:1071 → 1136
      Ig; Immunoglobulin domain
      cd05894
      Location:556 → 641
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:381 → 439
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:559 → 641
      IG_like; Immunoglobulin like
      cd00063
      Location:645 → 735
      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:1054 → 1143
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:864 → 935
      Ig; Immunoglobulin domain

    16. NM_206820.4 → NP_996556.1  myosin-binding protein C, slow-type isoform 3

      See identical proteins and their annotated locations for NP_996556.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three exons and includes an alternate exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS9085.1
      UniProtKB/Swiss-Prot
      B4DKR5, B7Z8G8, B7ZL02, B7ZL09, B7ZL10, E7ESM5, E7EWS6, G3XAE8, Q00872, Q15497, Q17RR7, Q569K7, Q86T48, Q86TC8, Q8N3L2
      UniProtKB/TrEMBL
      F8VZY0
      Related
      ENSP00000449702.1, ENST00000550270.1
      Conserved Domains (7) summary
      cd00096
      Location:1064 → 1129
      Ig; Immunoglobulin domain
      cd05894
      Location:531 → 616
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:356 → 414
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:534 → 616
      IG_like; Immunoglobulin like
      cd00063
      Location:620 → 710
      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:1047 → 1136
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:857 → 928
      Ig; Immunoglobulin domain

    17. NM_206821.4 → NP_996557.1  myosin-binding protein C, slow-type isoform 4

      See identical proteins and their annotated locations for NP_996557.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three exons in the coding region compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to variant 1.
      Source sequence(s)
      AC010205, AC090671, AC117505
      Consensus CDS
      CCDS55877.1
      UniProtKB/TrEMBL
      A8KAB1, Q8N3R4
      Related
      ENSP00000447900.1, ENST00000553190.5
      Conserved Domains (7) summary
      cd00096
      Location:1046 → 1111
      Ig; Immunoglobulin domain
      cd05894
      Location:531 → 616
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:356 → 414
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:534 → 616
      IG_like; Immunoglobulin like
      cd00063
      Location:620 → 710
      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:1029 → 1118
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:839 → 910
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      101594971..101695841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019316.2 → XP_016874805.1  myosin-binding protein C, slow-type isoform X5

      UniProtKB/TrEMBL
      F8VZY0

    2. XM_006719406.5 → XP_006719469.1  myosin-binding protein C, slow-type isoform X2

      UniProtKB/TrEMBL
      Q86TA8
      Conserved Domains (7) summary
      cd00096
      Location:1089 → 1154
      Ig; Immunoglobulin domain
      cd05894
      Location:556 → 641
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:381 → 439
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:559 → 641
      IG_like; Immunoglobulin like
      cd00063
      Location:645 → 735
      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:1072 → 1161
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:882 → 953
      Ig; Immunoglobulin domain

    3. XM_006719410.5 → XP_006719473.1  myosin-binding protein C, slow-type isoform X7

      UniProtKB/TrEMBL
      F8VZY0
      Related
      ENSP00000447660.1, ENST00000549145.5
      Conserved Domains (7) summary
      cd00096
      Location:1089 → 1154
      Ig; Immunoglobulin domain
      cd05894
      Location:556 → 641
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:381 → 439
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:559 → 641
      IG_like; Immunoglobulin like
      cd00063
      Location:645 → 735
      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:1072 → 1161
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:882 → 953
      Ig; Immunoglobulin domain

    4. XM_006719405.5 → XP_006719468.1  myosin-binding protein C, slow-type isoform X1

      UniProtKB/TrEMBL
      F8VZY0
      Conserved Domains (7) summary
      cd00096
      Location:1089 → 1154
      Ig; Immunoglobulin domain
      cd05894
      Location:556 → 641
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:381 → 439
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:559 → 641
      IG_like; Immunoglobulin like
      cd00063
      Location:645 → 735
      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:1072 → 1161
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:882 → 953
      Ig; Immunoglobulin domain

    5. XM_017019315.3 → XP_016874804.1  myosin-binding protein C, slow-type isoform X4

      UniProtKB/TrEMBL
      F8VZY0

    6. XM_017019318.3 → XP_016874807.1  myosin-binding protein C, slow-type isoform X11

      UniProtKB/TrEMBL
      Q86TA8

    7. XM_006719407.4 → XP_006719470.1  myosin-binding protein C, slow-type isoform X3

      UniProtKB/TrEMBL
      F8VZY0
      Conserved Domains (7) summary
      cd00096
      Location:1077 → 1142
      Ig; Immunoglobulin domain
      cd05894
      Location:544 → 629
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:369 → 427
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:547 → 629
      IG_like; Immunoglobulin like
      cd00063
      Location:633 → 723
      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:1060 → 1149
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:870 → 941
      Ig; Immunoglobulin domain

    8. XM_005268876.5 → XP_005268933.1  myosin-binding protein C, slow-type isoform X8

      UniProtKB/TrEMBL
      Q86TA8
      Conserved Domains (7) summary
      cd00096
      Location:1059 → 1124
      Ig; Immunoglobulin domain
      cd05894
      Location:544 → 629
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:369 → 427
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:547 → 629
      IG_like; Immunoglobulin like
      cd00063
      Location:633 → 723
      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:1042 → 1131
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:852 → 923
      Ig; Immunoglobulin domain

    9. XM_006719411.4 → XP_006719474.1  myosin-binding protein C, slow-type isoform X9

      See identical proteins and their annotated locations for XP_006719474.1

      UniProtKB/TrEMBL
      F8VZE0
      Conserved Domains (7) summary
      cd00096
      Location:1064 → 1129
      Ig; Immunoglobulin domain
      cd05894
      Location:531 → 616
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:356 → 414
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:534 → 616
      IG_like; Immunoglobulin like
      cd00063
      Location:620 → 710
      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:1047 → 1136
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:857 → 928
      Ig; Immunoglobulin domain

    10. XM_006719409.4 → XP_006719472.1  myosin-binding protein C, slow-type isoform X6

      UniProtKB/TrEMBL
      F8VZY0
      Conserved Domains (7) summary
      cd00096
      Location:1064 → 1129
      Ig; Immunoglobulin domain
      cd05894
      Location:531 → 616
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:356 → 414
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:534 → 616
      IG_like; Immunoglobulin like
      cd00063
      Location:620 → 710
      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:1047 → 1136
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:857 → 928
      Ig; Immunoglobulin domain

    11. XM_017019317.2 → XP_016874806.1  myosin-binding protein C, slow-type isoform X10

      UniProtKB/TrEMBL
      F8VZE0

    12. XM_017019319.3 → XP_016874808.1  myosin-binding protein C, slow-type isoform X12

      UniProtKB/TrEMBL
      F8VZY0

    13. XM_017019320.2 → XP_016874809.1  myosin-binding protein C, slow-type isoform X13

      UniProtKB/TrEMBL
      F8VZE0

    14. XM_047428875.1 → XP_047284831.1  myosin-binding protein C, slow-type isoform X14

      UniProtKB/TrEMBL
      F8VZE0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      101556082..101657067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372095.1 → XP_054228070.1  myosin-binding protein C, slow-type isoform X5

      UniProtKB/TrEMBL
      F8VZY0

    2. XM_054372092.1 → XP_054228067.1  myosin-binding protein C, slow-type isoform X2

      UniProtKB/TrEMBL
      Q86TA8

    3. XM_054372097.1 → XP_054228072.1  myosin-binding protein C, slow-type isoform X7

      UniProtKB/TrEMBL
      F8VZY0

    4. XM_054372091.1 → XP_054228066.1  myosin-binding protein C, slow-type isoform X1

      UniProtKB/TrEMBL
      F8VZY0

    5. XM_054372094.1 → XP_054228069.1  myosin-binding protein C, slow-type isoform X4

      UniProtKB/TrEMBL
      F8VZY0

    6. XM_054372101.1 → XP_054228076.1  myosin-binding protein C, slow-type isoform X11

      UniProtKB/TrEMBL
      Q86TA8

    7. XM_054372093.1 → XP_054228068.1  myosin-binding protein C, slow-type isoform X3

      UniProtKB/TrEMBL
      F8VZY0

    8. XM_054372098.1 → XP_054228073.1  myosin-binding protein C, slow-type isoform X8

      UniProtKB/TrEMBL
      Q86TA8

    9. XM_054372099.1 → XP_054228074.1  myosin-binding protein C, slow-type isoform X9

      UniProtKB/TrEMBL
      F8VZE0

    10. XM_054372096.1 → XP_054228071.1  myosin-binding protein C, slow-type isoform X6

      UniProtKB/TrEMBL
      F8VZY0

    11. XM_054372100.1 → XP_054228075.1  myosin-binding protein C, slow-type isoform X10

      UniProtKB/TrEMBL
      F8VZE0

    12. XM_054372102.1 → XP_054228077.1  myosin-binding protein C, slow-type isoform X12

      UniProtKB/TrEMBL
      F8VZY0

    13. XM_054372103.1 → XP_054228078.1  myosin-binding protein C, slow-type isoform X13

      UniProtKB/TrEMBL
      F8VZE0

    14. XM_054372104.1 → XP_054228079.1  myosin-binding protein C, slow-type isoform X14

      UniProtKB/TrEMBL
      F8VZE0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00872.2 GenPept UniProtKB/Swiss-Prot:Q00872

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous