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

    Gene ID: 126129, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49690662..49713731)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52690730..52713875)
    RS_2024_09 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 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. APC/C-regulated CPT1C promotes tumor progression by upregulating the energy supply and accelerating the G1/S transition. Zhao H, et al. Cell Commun Signal, 2024 May 23. PMID 38783346, Free PMC Article
    2. Regulatory enzymes of mitochondrial beta-oxidation as targets for treatment of the metabolic syndrome. Schreurs M, et al. Obes Rev, 2010 May. PMID 19694967
    3. Fatty acid binding protein facilitates sarcolemmal fatty acid transport but not mitochondrial oxidation in rat and human skeletal muscle. Holloway GP, et al. J Physiol, 2007 Jul 1. PMID 17478525, Free PMC Article
    4. The role of hypothalamic malonyl-CoA in energy homeostasis. Wolfgang MJ, et al. J Biol Chem, 2006 Dec 8. PMID 17018521
    5. Silencing of Peroxiredoxin 2 and aberrant methylation of 33 CpG islands in putative promoter regions in human malignant melanomas. Furuta J, et al. Cancer Res, 2006 Jun 15. PMID 16778180

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The YY1-CPT1C signaling axis modulates the proliferation and metabolism of pancreatic tumor cells under hypoxia.
      Title: The YY1-CPT1C signaling axis modulates the proliferation and metabolism of pancreatic tumor cells under hypoxia.
    2. APC/C-regulated CPT1C promotes tumor progression by upregulating the energy supply and accelerating the G1/S transition.
      Title: APC/C-regulated CPT1C promotes tumor progression by upregulating the energy supply and accelerating the G1/S transition.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. Carnitine palmitoyltransferase 1C contributes to progressive cellular senescence.
      Title: Carnitine palmitoyltransferase 1C contributes to progressive cellular senescence.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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
    		not available

    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
    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_2024_08

    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  palmitoyl thioesterase CPT1C isoform X1

    2. XM_047438161.1 → XP_047294117.1  palmitoyl thioesterase CPT1C isoform X5

    3. XM_047438153.1 → XP_047294109.1  palmitoyl thioesterase CPT1C isoform X1

    4. XM_047438159.1 → XP_047294115.1  palmitoyl thioesterase CPT1C isoform X3

    5. XM_047438160.1 → XP_047294116.1  palmitoyl thioesterase CPT1C isoform X4

    6. XM_047438157.1 → XP_047294113.1  palmitoyl thioesterase CPT1C isoform X2

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

    7. XM_047438156.1 → XP_047294112.1  palmitoyl thioesterase CPT1C isoform X2

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

    8. XM_047438152.1 → XP_047294108.1  palmitoyl thioesterase CPT1C isoform X1

    9. XM_047438155.1 → XP_047294111.1  palmitoyl thioesterase CPT1C isoform X1

    10. XM_047438154.1 → XP_047294110.1  palmitoyl thioesterase CPT1C isoform X1

    11. XM_047438158.1 → XP_047294114.1  palmitoyl thioesterase CPT1C isoform X3

    12. XM_047438162.1 → XP_047294118.1  palmitoyl thioesterase CPT1C 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  palmitoyl thioesterase CPT1C isoform X1

    2. XM_054319783.1 → XP_054175758.1  palmitoyl thioesterase CPT1C isoform X5

    3. XM_054319775.1 → XP_054175750.1  palmitoyl thioesterase CPT1C isoform X1

    4. XM_054319781.1 → XP_054175756.1  palmitoyl thioesterase CPT1C isoform X3

    5. XM_054319782.1 → XP_054175757.1  palmitoyl thioesterase CPT1C isoform X4

    6. XM_054319779.1 → XP_054175754.1  palmitoyl thioesterase CPT1C isoform X2

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

    7. XM_054319778.1 → XP_054175753.1  palmitoyl thioesterase CPT1C isoform X2

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

    8. XM_054319774.1 → XP_054175749.1  palmitoyl thioesterase CPT1C isoform X1

    9. XM_054319776.1 → XP_054175751.1  palmitoyl thioesterase CPT1C isoform X1

    10. XM_054319780.1 → XP_054175755.1  palmitoyl thioesterase CPT1C isoform X3

    11. XM_054319777.1 → XP_054175752.1  palmitoyl thioesterase CPT1C isoform X1

    12. XM_054319784.1 → XP_054175759.1  palmitoyl thioesterase CPT1C 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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