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

Gene ID: 4604, updated on 28-Oct-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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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

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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
Compare labs
Lethal congenital contracture syndrome 4
MedGen: C3554046 OMIM: 614915 GeneReviews: Not available
Compare labs
Myopathy, congenital, with tremor
MedGen: C5231401 OMIM: 618524 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

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

    Status: REVIEWED

    Source sequence(s)
    AC010205, AC090671, AC117505

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

    Status: REVIEWED

    Source sequence(s)
    AC010205, AC090671, AC117505

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

    Status: REVIEWED

    Source sequence(s)
    AC010205, AC090671, AC117505

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

    Status: REVIEWED

    Source sequence(s)
    AC010205, AC090671, AC117505

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

    Status: REVIEWED

    Source sequence(s)
    AC010205, AC090671, AC117505
    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

  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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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