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Cpt1c carnitine palmitoyltransferase 1c [ Mus musculus (house mouse) ]

Gene ID: 78070, updated on 11-Apr-2024

Summary

Official Symbol
Cpt1cprovided by MGI
Official Full Name
carnitine palmitoyltransferase 1cprovided by MGI
Primary source
MGI:MGI:2446526
See related
Ensembl:ENSMUSG00000007783 AllianceGenome:MGI:2446526
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
CPT IC; CPT1-B; CPTI-B; CPT I-C; 6530437J22Rik; 9630004I06Rik
Summary
Predicted to enable carnitine O-palmitoyltransferase activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Located in several cellular components, including dendrite; endoplasmic reticulum; and postsynapse. Is integral component of endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 73. Orthologous to human CPT1C (carnitine palmitoyltransferase 1C). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 42.6), cortex adult (RPKM 27.5) and 17 other tissues See more
Orthologs
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Genomic context

See Cpt1c in Genome Data Viewer
Location:
7 B3; 7 29.07 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (44607907..44624304, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (44958483..44974880, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene fuzzy planar cell polarity protein Neighboring gene adaptor-related protein complex 2, alpha 1 subunit Neighboring gene STARR-positive B cell enhancer ABC_E88 Neighboring gene testis-specific serine kinase substrate Neighboring gene STARR-seq mESC enhancer starr_18822 Neighboring gene protein arginine N-methyltransferase 1 Neighboring gene predicted gene 15545 Neighboring gene BCL2 like 12

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (5)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC101932

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables carnitine O-palmitoyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables palmitoyl-(protein) hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables palmitoyl-(protein) hydrolase activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum membrane IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in endoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HDA PubMed 
NOT located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in postsynapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
palmitoyl thioesterase CPT1C
Names
carnitine palmitoyltransferase 1, brain
carnitine palmitoyltransferase I
NP_001239399.1
NP_001344599.1
NP_710146.1
XP_011249219.1
XP_011249220.1
XP_036009459.1
XP_036009460.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001252470.1NP_001239399.1  palmitoyl thioesterase CPT1C isoform 1

    See identical proteins and their annotated locations for NP_001239399.1

    Status: VALIDATED

    Source sequence(s)
    AK035790, BU758114, CN842042
    Consensus CDS
    CCDS21221.1
    UniProtKB/Swiss-Prot
    Q6NZF8, Q8BGD5, Q8C071
    Related
    ENSMUSP00000148815.2, ENSMUST00000212836.2
    Conserved Domains (2) summary
    pfam00755
    Location:171756
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. NM_001357670.1NP_001344599.1  palmitoyl thioesterase CPT1C isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC155806
    Conserved Domains (2) summary
    pfam00755
    Location:171754
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. NM_153679.2NP_710146.1  palmitoyl thioesterase CPT1C isoform 1

    See identical proteins and their annotated locations for NP_710146.1

    Status: VALIDATED

    Source sequence(s)
    AK035790, BU758114, CN842042
    Consensus CDS
    CCDS21221.1
    UniProtKB/Swiss-Prot
    Q6NZF8, Q8BGD5, Q8C071
    Related
    ENSMUSP00000069539.8, ENSMUST00000063761.8
    Conserved Domains (2) summary
    pfam00755
    Location:171756
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    44607907..44624304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153566.1XP_036009459.1  palmitoyl thioesterase CPT1C isoform X3

    Conserved Domains (1) summary
    pfam00755
    Location:2369
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. XM_036153567.1XP_036009460.1  palmitoyl thioesterase CPT1C isoform X3

    Conserved Domains (1) summary
    pfam00755
    Location:2369
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. XM_011250918.2XP_011249220.1  palmitoyl thioesterase CPT1C isoform X2

    Conserved Domains (1) summary
    pfam00755
    Location:1502
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  4. XM_011250917.2XP_011249219.1  palmitoyl thioesterase CPT1C isoform X1

    Conserved Domains (1) summary
    pfam00755
    Location:10503
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RNA

  1. XR_882039.4 RNA Sequence

  2. XR_882038.3 RNA Sequence

  3. XR_882037.3 RNA Sequence

  4. XR_001778010.2 RNA Sequence

  5. XR_001778016.2 RNA Sequence

  6. XR_004934219.1 RNA Sequence

  7. XR_001778014.2 RNA Sequence

  8. XR_001778015.2 RNA Sequence

  9. XR_003946599.2 RNA Sequence

  10. XR_004934218.1 RNA Sequence

  11. XR_001778011.2 RNA Sequence

  12. XR_001778012.2 RNA Sequence

  13. XR_001778013.2 RNA Sequence

  14. XR_003946598.2 RNA Sequence