About   Help   FAQ
Cpt1a Gene Detail
Summary
  • Symbol
    Cpt1a
  • Name
    carnitine palmitoyltransferase 1a, liver
  • Synonyms
    Cpt1, CPTI, L-CPT I
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098296
    NCBI Gene: 12894
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:3372334-3435733 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 3.08 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1296 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098296
 protein coding gene Chr19:3372328-3435735 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024623
 protein coding gene Chr19:77637-143031 (+)
A/J MGP_AJ_G0024590
 protein coding gene Chr19:89622-153648 (+)
AKR/J MGP_AKRJ_G0024561
 protein coding gene Chr19:76550-140374 (+)
BALB/cJ MGP_BALBcJ_G0024588
 protein coding gene Chr19:76840-139147 (+)
C3H/HeJ MGP_C3HHeJ_G0024357
 protein coding gene Chr19:75786-144083 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025036
 protein coding gene Chr19:69461-131183 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022465
 protein coding gene Chr19:72429-132198 (+)
CAST/EiJ MGP_CASTEiJ_G0023829
 protein coding gene Chr19:76092-140134 (+)
CBA/J MGP_CBAJ_G0024327
 protein coding gene Chr19:92819-163740 (+)
DBA/2J MGP_DBA2J_G0024456
 protein coding gene Chr19:72971-135194 (+)
FVB/NJ MGP_FVBNJ_G0024423
 protein coding gene Chr19:75388-137018 (+)
LP/J MGP_LPJ_G0024542
 protein coding gene Chr19:77420-142846 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024453
 protein coding gene Chr19:86050-152330 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025084
 protein coding gene Chr19:67040-133755 (+)
PWK/PhJ MGP_PWKPhJ_G0023575
 protein coding gene Chr19:78860-146508 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023381
 protein coding gene Chr19:69045-134166 (+)
WSB/EiJ MGP_WSBEiJ_G0023892
 protein coding gene Chr19:71454-138127 (+)



Homology
more
  • Human Ortholog
    CPT1A, carnitine palmitoyltransferase 1A
  • Vertebrate Orthologs
    6
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CPT1A, carnitine palmitoyltransferase 1A
  • Synonyms
    CPT1, CPT1-L, L-CPT1
  • Links
    NCBI Gene ID: 1374
    neXtProt AC: NX_P50416
    UniProt: P50416

  • Chr Location
    11q13.3; chr11:68754620-68844410 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cpt1a mouse models; 2 with human CPT1A associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    39 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.
Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • 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
    1115
  • Tissues
    171
  • cDNA Data
    156
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024900 Ensembl Gene Model | MGI Sequence Detail 63400 C57BL/6J ±  kb
    transcript ENSMUST00000025835 Ensembl | MGI Sequence Detail 4317 Not Applicable  
    polypeptide ENSMUSP00000025835 Ensembl | MGI Sequence Detail 773 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000005835 carnitine O-palmitoyltransferase 1, liver isoform
      (term hierarchy)
    • EC
      2.3.1.-, 2.3.1.21
    • 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
      P97742 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 166
      Genomic 3
      cDNA 157
      Primer pair 5
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2118, MGI:2147452, MGI:2147463, MGI:88485
    References
    more
    • Summaries
      All 124
      Developmental Gene Expression 29
      Diseases 1
      Gene Ontology 13
      Phenotypes 39
    • 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:358808 Choi J, et al., Etomoxir repurposed as a promiscuous fatty acid mimetic chemoproteomic probe. iScience. 2024 Sep 20;27(9):110642
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory