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CPT1C carnitine palmitoyltransferase 1C [ Homo sapiens (human) ]

Gene ID: 126129, updated on 3-Apr-2024

Summary

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Official Symbol
CPT1Cprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1Cprovided by HGNC
Primary source
HGNC:HGNC:18540
See related
Ensembl:ENSG00000169169 MIM:608846; AllianceGenome:HGNC:18540
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CATL1; CPT1P; CPTIC; SPG73; CPT1-B; CPTI-B; CPT I-C
Summary
This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression
Biased expression in brain (RPKM 10.7), endometrium (RPKM 2.3) and 9 other tissues See more
Orthologs
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Genomic context

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See CPT1C in Genome Data Viewer
Location:
19q13.33
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49690662..49713731)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52690730..52713875)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50194105..50216988)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10933 Neighboring gene protein arginine methyltransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50190450-50191191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50191192-50191932 Neighboring gene microRNA 5088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10934 Neighboring gene adrenomedullin 5 (putative) Neighboring gene CRISPRi-validated cis-regulatory element chr19.5489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50224617-50225117 Neighboring gene ribosomal protein S9 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50230322-50230822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50230823-50231323 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50237036-50237211 Neighboring gene Sharpr-MPRA regulatory region 2111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50249425-50249944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50249945-50250464 Neighboring gene uncharacterized LOC105372434 Neighboring gene testis specific serine kinase substrate

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Metabolic Flux Analysis Reveals the Roles of Stearate and Oleate on CPT1C-mediated Tumor Cell Senescence. Chen P, et al. Int J Biol Sci, 2023. PMID 37151873, Free PMC Article
  2. To be or not to be a fat burner, that is the question for cpt1c in cancer cells. Fadó R, et al. Cell Death Dis, 2023 Jan 24. PMID 36693836, Free PMC Article
  3. Cpt1c Downregulation Causes Plasma Membrane Remodelling and Anthracycline Resistance in Breast Cancer. Muley H, et al. Int J Mol Sci, 2023 Jan 4. PMID 36674468, Free PMC Article
  4. Carnitine palmitoyltransferase 1C reverses cellular senescence of MRC-5 fibroblasts via regulating lipid accumulation and mitochondrial function. Chen P, et al. J Cell Physiol, 2021 Feb. PMID 32632982
  5. Carnitine palmitoyltransferase 1C contributes to progressive cellular senescence. Wang Y, et al. Aging (Albany NY), 2020 Apr 14. PMID 32289751, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Metabolic Flux Analysis Reveals the Roles of Stearate and Oleate on CPT1C-mediated Tumor Cell Senescence.
    Title: Metabolic Flux Analysis Reveals the Roles of Stearate and Oleate on CPT1C-mediated Tumor Cell Senescence.
  2. To be or not to be a fat burner, that is the question for cpt1c in cancer cells.
    Title: To be or not to be a fat burner, that is the question for cpt1c in cancer cells.
  3. Cpt1c Downregulation Causes Plasma Membrane Remodelling and Anthracycline Resistance in Breast Cancer.
    Title: Cpt1c Downregulation Causes Plasma Membrane Remodelling and Anthracycline Resistance in Breast Cancer.
  4. Carnitine palmitoyltransferase 1C reverses cellular senescence of MRC-5 fibroblasts via regulating lipid accumulation and mitochondrial function.
    Title: Carnitine palmitoyltransferase 1C reverses cellular senescence of MRC-5 fibroblasts via regulating lipid accumulation and mitochondrial function.
  5. A novel miR-1291-ERRalpha-CPT1C axis modulates tumor cell proliferation, metabolism and tumorigenesis.
    Title: A novel miR-1291-ERRα-CPT1C axis modulates tumor cell proliferation, metabolism and tumorigenesis.
  6. Carnitine palmitoyltransferase 1C contributes to progressive cellular senescence.
    Title: Carnitine palmitoyltransferase 1C contributes to progressive cellular senescence.
  7. We demonstrate in HeLa cells that carnitine palmitoyltransferase 1C (CPT1C) senses malonyl-CoA and enhances LE/Lys anterograde transport by interacting with the endoplasmic reticulum protein protrudin and facilitating the transfer of Kinesin-1 from protrudin to LE/Lys
    Title: Sensing of nutrients by CPT1C regulates late endosome/lysosome anterograde transport and axon growth.
  8. CPT1C exerts the most significant effect on mitochondrial dysfunction-associated tumor cellular senescence among the members of the carnitine palmitoyltransferases family.
    Title: Effects of carnitine palmitoyltransferases on cancer cellular senescence.
  9. These results indicate that CPT1C-mediated autophagy enhancement in glucose deprivation conditions allows a greater availability of lipids to be used as fuel substrate for ATP generation, revealing a new role of CPT1C in stem cell adaptation to low nutrient environments.
    Title: CPT1C promotes human mesenchymal stem cells survival under glucose deprivation through the modulation of autophagy.
  10. This study identifies CPT1C as a novel biomarker and key regulator of cancer cell senescence through mitochondria-associated metabolic reprograming, and suggests that inhibition of CPT1C may represent a new therapeutic strategy for cancer treatment through induction of tumor senescence.
    Title: Carnitine palmitoyltransferase 1C regulates cancer cell senescence through mitochondria-associated metabolic reprograming.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary spastic paraplegia 73
MedGen: C5568981 OMIM: 616282 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 envelope glycoprotein (gp160) contains two palmitoylated cysteine residues C764 and C837; removal of both palmitoylation sites results in the formation of virus with low levels of gp160 incorporation, as well as a decrease in viral infectivity PubMed
capsid gag The interaction of HIV-1 CA with human cellular carnitine palmitoyltransferase 1C protein (CPT1C) is identified by yeast two-hybrid screen PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23809

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables carnitine O-palmitoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables palmitoyl-(protein) hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in carnitine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in carnitine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in fatty acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in macromolecule depalmitoylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
  
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
NOT located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
palmitoyl thioesterase CPT1C; carnitine O-palmitoyltransferase 1, brain isoform
Names
carnitine palmitoyltransferase I related C
NP_001129524.1
NP_001186681.1
NP_001186682.1
NP_001365411.1
NP_001365412.1
NP_001365413.1
NP_001365414.1
NP_001365415.1
NP_001365416.1
NP_001365417.1
NP_689572.1
XP_047294107.1
XP_047294108.1
XP_047294109.1
XP_047294110.1
XP_047294111.1
XP_047294112.1
XP_047294113.1
XP_047294114.1
XP_047294115.1
XP_047294116.1
XP_047294117.1
XP_047294118.1
XP_054175748.1
XP_054175749.1
XP_054175750.1
XP_054175751.1
XP_054175752.1
XP_054175753.1
XP_054175754.1
XP_054175755.1
XP_054175756.1
XP_054175757.1
XP_054175758.1
XP_054175759.1

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.

Genomic

  1. NG_050570.1 RefSeqGene

    Range
    5239..27854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136052.3 → NP_001129524.1  palmitoyl thioesterase CPT1C isoform 1

    See identical proteins and their annotated locations for NP_001129524.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS46147.1
    UniProtKB/TrEMBL
    B3KU49
    Related
    ENSP00000384465.2, ENST00000405931.6
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 747
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  2. NM_001199752.3 → NP_001186681.1  palmitoyl thioesterase CPT1C isoform 2

    See identical proteins and their annotated locations for NP_001186681.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    B3KU49
    Related
    ENSP00000376303.4, ENST00000392518.8
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  3. NM_001199753.2 → NP_001186682.1  palmitoyl thioesterase CPT1C isoform 2

    See identical proteins and their annotated locations for NP_001186682.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    B3KU49
    Related
    ENSP00000473028.1, ENST00000598293.6
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  4. NM_001378482.1 → NP_001365411.1  palmitoyl thioesterase CPT1C isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 780
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  5. NM_001378483.1 → NP_001365412.1  palmitoyl thioesterase CPT1C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    B3KU49
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  6. NM_001378484.1 → NP_001365413.1  palmitoyl thioesterase CPT1C isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    B3KU49
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  7. NM_001378485.1 → NP_001365414.1  palmitoyl thioesterase CPT1C isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS46147.1
    UniProtKB/TrEMBL
    B3KU49
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 747
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  8. NM_001378486.1 → NP_001365415.1  palmitoyl thioesterase CPT1C isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    UniProtKB/TrEMBL
    B3KU49
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 713
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  9. NM_001378487.1 → NP_001365416.1  palmitoyl thioesterase CPT1C isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 702
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  10. NM_001378488.1 → NP_001365417.1  palmitoyl thioesterase CPT1C isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    UniProtKB/TrEMBL
    B3KU49
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 713
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

  11. NM_152359.3 → NP_689572.1  palmitoyl thioesterase CPT1C isoform 2

    See identical proteins and their annotated locations for NP_689572.1

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Consensus CDS
    CCDS12779.1
    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
    UniProtKB/TrEMBL
    B3KU49
    Related
    ENSP00000319343.4, ENST00000323446.9
    Conserved Domains (2) summary
    pfam00755
    Location:171 → 758
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:1 → 47
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RNA

  1. NR_108072.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011495, KF456599
    Related
    ENST00000598259.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49690662..49713731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438151.1 → XP_047294107.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  2. XM_047438161.1 → XP_047294117.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X5

  3. XM_047438153.1 → XP_047294109.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  4. XM_047438159.1 → XP_047294115.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

  5. XM_047438160.1 → XP_047294116.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X4

  6. XM_047438157.1 → XP_047294113.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84

  7. XM_047438156.1 → XP_047294112.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84

  8. XM_047438152.1 → XP_047294108.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  9. XM_047438155.1 → XP_047294111.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  10. XM_047438154.1 → XP_047294110.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  11. XM_047438158.1 → XP_047294114.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

  12. XM_047438162.1 → XP_047294118.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52690730..52713875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319773.1 → XP_054175748.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  2. XM_054319783.1 → XP_054175758.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X5

  3. XM_054319775.1 → XP_054175750.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  4. XM_054319781.1 → XP_054175756.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

  5. XM_054319782.1 → XP_054175757.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X4

  6. XM_054319779.1 → XP_054175754.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84

  7. XM_054319778.1 → XP_054175753.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

    UniProtKB/Swiss-Prot
    A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84

  8. XM_054319774.1 → XP_054175749.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  9. XM_054319776.1 → XP_054175751.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  10. XM_054319780.1 → XP_054175755.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X3

  11. XM_054319777.1 → XP_054175752.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

  12. XM_054319784.1 → XP_054175759.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TCG5.1 GenPept UniProtKB/Swiss-Prot:Q8TCG5

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