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Cpt1b Gene Detail
Summary
  • Symbol
    Cpt1b
  • Name
    carnitine palmitoyltransferase 1b, muscle
  • Synonyms
    Cpt1, M-CPTI, M-CPT I
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098297
    NCBI Gene: 12895
Location & Maps
more
  • Sequence Map
    Chr15:89416405-89425863 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9459 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 44.89 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    CPT1B, carnitine palmitoyltransferase 1B
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CPT1B, carnitine palmitoyltransferase 1B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CPT1M, CPT1-M, CPTI, CPTI-M, MCCPT1, MCPT1, M-CPT1
  • Links
    NCBI Gene ID: 1375
    neXtProt AC: NX_Q92523

  • Chr Location
    22q13.33; chr22:50568861-50578667 (-)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    23 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    3 involving Cpt1b
  • Incidental Mutations
Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035434 VEGA Gene Model | MGI Sequence Detail 9459 C57BL/6J ±  kb
transcript OTTMUST00000090606 VEGA | MGI Sequence Detail 2895 Not Applicable  
polypeptide OTTMUSP00000049742 VEGA | MGI Sequence Detail 772 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    14 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000005836 carnitine O-palmitoyltransferase 1, muscle isoform
  • EC
  • InterPro Domains
    IPR000542 Acyltransferase ChoActase/COT/CPT
    IPR032476 Carnitine O-palmitoyltransferase, N-terminal
Molecular
Reagents
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  • All nucleic 37
    Genomic 3
    cDNA 32
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-2118
References
more
  • Summaries
    All 48
    Developmental Gene Expression 10
    Diseases 1
    Gene Ontology 7
    Phenotypes 23
  • Earliest
    J:16140 Gelb BD, Genomic structure of and a cardiac promoter for the mouse carnitine palmitoyltransferase II gene. Genomics. 1993 Dec;18(3):651-5
  • Latest
    J:223761 Wicks SE, et al., Impaired mitochondrial fat oxidation induces adaptive remodeling of muscle metabolism. Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3300-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory