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

    Gene ID: 126129, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001136052.3NP_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:171747
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    2. NM_001199752.3NP_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:171758
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    3. NM_001199753.2NP_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:171758
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    4. NM_001378482.1NP_001365411.1  palmitoyl thioesterase CPT1C isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC011495, KF456599
      Conserved Domains (2) summary
      pfam00755
      Location:171780
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    5. NM_001378483.1NP_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:171758
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    6. NM_001378484.1NP_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:171758
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    7. NM_001378485.1NP_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:171747
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    8. NM_001378486.1NP_001365415.1  palmitoyl thioesterase CPT1C isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC011495, KF456599
      UniProtKB/TrEMBL
      B3KU49
      Conserved Domains (2) summary
      pfam00755
      Location:171713
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    9. NM_001378487.1NP_001365416.1  palmitoyl thioesterase CPT1C isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC011495, KF456599
      Conserved Domains (2) summary
      pfam00755
      Location:171702
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    10. NM_001378488.1NP_001365417.1  palmitoyl thioesterase CPT1C isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC011495, KF456599
      UniProtKB/TrEMBL
      B3KU49
      Conserved Domains (2) summary
      pfam00755
      Location:171713
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    11. NM_152359.3NP_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:171758
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:147
      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_047438151.1XP_047294107.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

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

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

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

      UniProtKB/TrEMBL
      B3KU49
    5. XM_047438160.1XP_047294116.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X4

      UniProtKB/TrEMBL
      B3KU49
    6. XM_047438157.1XP_047294113.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

      UniProtKB/Swiss-Prot
      A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
      UniProtKB/TrEMBL
      B3KU49
    7. XM_047438156.1XP_047294112.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

      UniProtKB/Swiss-Prot
      A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
      UniProtKB/TrEMBL
      B3KU49
    8. XM_047438152.1XP_047294108.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

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

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

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

      UniProtKB/TrEMBL
      B3KU49
    12. XM_047438162.1XP_047294118.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X6

      UniProtKB/TrEMBL
      B3KU49

    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_054319773.1XP_054175748.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

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

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

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

      UniProtKB/TrEMBL
      B3KU49
    5. XM_054319782.1XP_054175757.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X4

      UniProtKB/TrEMBL
      B3KU49
    6. XM_054319779.1XP_054175754.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

      UniProtKB/Swiss-Prot
      A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
      UniProtKB/TrEMBL
      B3KU49
    7. XM_054319778.1XP_054175753.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X2

      UniProtKB/Swiss-Prot
      A8K0Z8, Q5K6N5, Q8N6Q9, Q8NDS6, Q8TCG5, Q8TE84
      UniProtKB/TrEMBL
      B3KU49
    8. XM_054319774.1XP_054175749.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

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

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

      UniProtKB/TrEMBL
      B3KU49
    11. XM_054319777.1XP_054175752.1  carnitine O-palmitoyltransferase 1, brain isoform isoform X1

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

      UniProtKB/TrEMBL
      B3KU49