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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:44608796-44624275 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 29.07 cM, cytoband B2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    559 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2446526
 protein coding gene Chr7:44607907-44624304 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032188
 protein coding gene Chr7:45177440-45195432 (-)
A/J MGP_AJ_G0032167
 protein coding gene Chr7:44327982-44343004 (-)
AKR/J MGP_AKRJ_G0032103
 protein coding gene Chr7:45549236-45564195 (-)
BALB/cJ MGP_BALBcJ_G0032179
 protein coding gene Chr7:44325394-44341120 (-)
C3H/HeJ MGP_C3HHeJ_G0031895
 protein coding gene Chr7:46051903-46069736 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032671
 protein coding gene Chr7:47439073-47458929 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029685
 protein coding gene Chr7:46895699-46911090 (-)
CAST/EiJ MGP_CASTEiJ_G0031223
 protein coding gene Chr7:37422197-37439960 (-)
CBA/J MGP_CBAJ_G0031859
 protein coding gene Chr7:49001688-49019814 (-)
DBA/2J MGP_DBA2J_G0032017
 protein coding gene Chr7:43994888-44014453 (-)
FVB/NJ MGP_FVBNJ_G0031968
 protein coding gene Chr7:43774659-43790727 (-)
LP/J MGP_LPJ_G0032095
 protein coding gene Chr7:45855344-45875155 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032005
 protein coding gene Chr7:47725955-47744156 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032687
 protein coding gene Chr7:44767031-44785717 (-)
PWK/PhJ MGP_PWKPhJ_G0030946
 protein coding gene Chr7:37361087-37378750 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030783
 protein coding gene Chr7:32780903-32796167 (-)
WSB/EiJ MGP_WSBEiJ_G0031340
 protein coding gene Chr7:45245408-45264612 (-)



Homology
more
  • Human Ortholog
    CPT1C, carnitine palmitoyltransferase 1C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CPT1C, carnitine palmitoyltransferase 1C
  • Synonyms
    CATL1, CPT1-B, CPT1P, CPTI-B, CPT I-C, CPTIC, SPG73
  • Links
    NCBI Gene ID: 126129
    neXtProt AC: NX_Q8TCG5
    UniProt: Q8TCG5

  • Chr Location
    19q13.33; chr19:49690662-49713731 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CPT1C associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 4 alleles in 4 genetic backgrounds
    3 phenotypes from multigenic genotypes
    27 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
less
  • All GO Annotations
    32
  • GO References
    13
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
    1038
  • Tissues
    177
  • cDNA Data
    34
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000007783 Ensembl Gene Model | MGI Sequence Detail 15480 C57BL/6J ±  kb
    transcript ENSMUST00000212836 Ensembl | MGI Sequence Detail 2716 Not Applicable  
    polypeptide ENSMUSP00000148815 Ensembl | MGI Sequence Detail 798 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000005837 palmitoyl thioesterase CPT1C
      (term hierarchy)
    • EC
      3.1.2.22
    • InterPro Domains
      IPR000542 Acyltransferase ChoActase/COT/CPT
      IPR042572 Carnitine o-acyltransferase, N-terminal
      IPR032476 Carnitine O-palmitoyltransferase, N-terminal
      IPR023213 Chloramphenicol acetyltransferase-like domain superfamily
      IPR039551 Choline/carnitine acyltransferase domain
      IPR042231 Choline/Carnitine o-acyltransferase, domain 2
    • GlyGen
      Q8BGD5 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 34
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2442291
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 8
      Gene Ontology 13
      Phenotypes 27
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory