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Cpt1c Gene Detail
Summary
  • Symbol
    Cpt1c
  • Name
    carnitine palmitoyltransferase 1c
  • Synonyms
    9630004I06Rik, CPT I-C
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446526
    NCBI Gene: 78070
Location & Maps
more
  • Sequence Map
    Chr7:44959373-44974851 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15479 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 29.07 cM, cytoband B2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CPT1C, carnitine palmitoyltransferase 1C
  • Vertebrate Orthologs
    6
  • Human Ortholog
    CPT1C, carnitine palmitoyltransferase 1C
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
  • Links
    NCBI Gene ID: 126129
    neXtProt AC: NX_Q8TCG5

  • Chr Location
    19q13.33; chr19:49690878-49713731 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CPT1C associations

Human Disease Mouse Models
       Spastic Paraplegia 73, Autosomal Dominant; SPG73   OMIM: 616282
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    16 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.
Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning.
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 ENSMUSG00000007783 Ensembl Gene Model | MGI Sequence Detail 15479 C57BL/6J ±  kb
transcript ENSMUST00000063761 Ensembl | MGI Sequence Detail 2793 Not Applicable  
polypeptide ENSMUSP00000069539 Ensembl | MGI Sequence Detail 798 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    204 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005837 carnitine O-palmitoyltransferase 1, brain isoform
  • EC
  • InterPro Domains
    IPR000542 Acyltransferase ChoActase/COT/CPT
    IPR032476 Carnitine O-palmitoyltransferase, N-terminal
Molecular
Reagents
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  • All nucleic 35
    cDNA 33
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:2442291
References
more
  • Summaries
    All 44
    Developmental Gene Expression 5
    Gene Ontology 6
    Phenotypes 16
  • Earliest
    J:79496 Price N, et al., A novel brain-expressed protein related to carnitine palmitoyltransferase I. Genomics. 2002 Oct;80(4):433-42
  • Latest
    J:221498 Rinaldi C, et al., Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurol. 2015 May 1;72(5):561-70

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
08/17/2016
MGI 6.05
The Jackson Laboratory