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Mybpc1 Gene Detail
Summary
  • Symbol
    Mybpc1
  • Name
    myosin binding protein C, slow-type
  • Synonyms
    8030451F13Rik, Slow-type C-protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336213
    NCBI Gene: 109272
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:88354141-88441014 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 43.99 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1104 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1336213
protein coding gene Chr10:88354141-88441051 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017629
protein coding gene Chr10:89613250-89705222 (-)
A/J MGP_AJ_G0017608
protein coding gene Chr10:86579900-86669325 (-)
AKR/J MGP_AKRJ_G0017566
protein coding gene Chr10:89047719-89141084 (-)
BALB/cJ MGP_BALBcJ_G0017571
protein coding gene Chr10:86862666-86950704 (-)
C3H/HeJ MGP_C3HHeJ_G0017394
protein coding gene Chr10:89018571-89117677 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018028
protein coding gene Chr10:92625489-92719168 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015710
protein coding gene Chr10:82347834-82437910 (-)
CAST/EiJ MGP_CASTEiJ_G0016959
protein coding gene Chr10:88945237-89037584 (-)
CBA/J MGP_CBAJ_G0017363
protein coding gene Chr10:96455347-96551879 (-)
DBA/2J MGP_DBA2J_G0017469
protein coding gene Chr10:85700131-85787481 (-)
FVB/NJ MGP_FVBNJ_G0017461
protein coding gene Chr10:84922514-85009751 (-)
LP/J MGP_LPJ_G0017543
protein coding gene Chr10:90283237-90376535 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017492
protein coding gene Chr10:97955276-98048747 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018065
protein coding gene Chr10:88880458-88974598 (-)
PWK/PhJ MGP_PWKPhJ_G0016740
protein coding gene Chr10:85724372-85813990 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016528
protein coding gene Chr10:87617224-87704752 (-)
WSB/EiJ MGP_WSBEiJ_G0017018
protein coding gene Chr10:88866111-88963185 (-)



Homology
more
  • Human Ortholog
    MYBPC1, myosin binding protein C1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MYBPC1, myosin binding protein C1
  • Synonyms
    LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
  • Links
    NCBI Gene ID: 4604
    neXtProt AC: NX_Q00872
    UniProt: Q00872

  • Chr Location
    12q23.2; chr12:101594849-101695841 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mybpc1 mouse models; 2 with human MYBPC1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a point mutation exhibit tremors and neonatal lethality. Mice heterozygous for the allele exhibit tremors, decreased muscle mass, decreased body size, decreased strength, myogenic tremor, kyphoisis, and sarcomeric dysregulation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020061 Ensembl Gene Model | MGI Sequence Detail 86874 C57BL/6J ±  kb
    transcript ENSMUST00000238199 Ensembl | MGI Sequence Detail 3650 Not Applicable  
    polypeptide ENSMUSP00000158844 Ensembl | MGI Sequence Detail 1139 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 25
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1924741
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 2
      Phenotypes 12
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:306226 Firulli BA, et al., HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure. Cardiovasc Res. 2020 Mar 1;116(3):605-618

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    last database update
    08/03/2022
    MGI 6.21
    The Jackson Laboratory