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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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 43.99 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    2774 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
    CMYO16, CMYP16, LCCS4, MYBPCC, MYBPCS, MYOTREM, ssMyBP-C
  • Links
    NCBI Gene ID: 4604
    neXtProt AC: NX_Q00872
    UniProt: Q00872

  • Chr Location
    12q23.2; chr12:101568353-101695841 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mybpc1 mouse models; 3 with human MYBPC1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
less
  • 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    6
  • GO References
    3
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    939
  • Tissues
    87
  • cDNA Data
    25
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 45
      Developmental Gene Expression 12
      Diseases 1
      Gene Ontology 3
      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:334527 Weiss AC, et al., Permissive ureter specification by TBX18-mediated repression of metanephric gene expression. Development. 2023 Mar 15;150(6):dev201048
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory