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Cpt1c
Gene Detail
Symbol

Name
ID
Cpt1c
carnitine palmitoyltransferase 1c
MGI:2446526
Synonyms
9630004I06Rik, CPT I-C
Feature Type
protein coding gene
Genetic Map
Chromosome 7
29.07 cM, cytoband B2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:44959373-44974851 bp, - strand
From Ensembl annotation of GRCm38

  15479 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:17561  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog

HCOP human homology predictions: CPT1C
Gene Tree: Cpt1c

Human
homologs
CPT1C, carnitine palmitoyltransferase 1C
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 126129
neXtProt AC: NX_Q8TCG5

Human Synonyms: CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73

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

Disease Associations: (1) Diseases Associated with Human CPT1C

Mutations,
alleles, and
phenotypes
All mutations/alleles(32) : Gene trapped(26) Targeted(6)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 maturation and impaired spatial learning.
 
Interactions
Cpt1c interacts with 34 markers (Mir23a, Mir23b, Mir30c-1, ...)
Expression
Literature Summary: (4 records)
Data Summary: Results (294)    Tissues (162)    Images (47)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 294
cDNA source data(33)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN cpt1cb    NEW 
Molecular
reagents
All nucleic(35) cDNA(33) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000007783 (Evidence)
Entrez Gene 78070 (Evidence)
UniGene 231465
DFCI TC1579741, TC1618217, TC1592214
DoTS DT.101724922, DT.101366701, DT.97351320, DT.111001483, DT.111001484
NIA Mouse Gene Index U123195
EC 2.3.1.21
Consensus CDS Project CCDS21221.1
International Mouse Phenotyping Consortium Status Cpt1c
Sequences
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 sequences
All sequences(54) RefSeq(21) UniProt(3)
Polymorphisms
SNPs within 2kb(211 from dbSNP Build 137)    SNPs within 2kb including multiple locations(213)
Protein-related
information
ResourceIDDescription
InterPro IPR000542 Acyltransferase ChoActase/COT/CPT
Protein Ontology PR:000005837 carnitine O-palmitoyltransferase 1, brain isoform
References
(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
All references(45)
Other
accession IDs
MGI:2442291

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
06/23/2015
MGI 5.22
The Jackson Laboratory