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    CPT1A carnitine palmitoyltransferase 1A [ Homo sapiens (human) ]

    Gene ID: 1374, updated on 3-May-2024

    Summary

    Official Symbol
    CPT1Aprovided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:2328
    See related
    Ensembl:ENSG00000110090 MIM:600528; AllianceGenome:HGNC:2328
    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
    CPT1; CPT1-L; L-CPT1
    Summary
    The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11q13.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68754620..68844277, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68760743..68850531, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68522088..68609384, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984343 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68452083-68452758 Neighboring gene Sharpr-MPRA regulatory region 1260 Neighboring gene NANOG hESC enhancer GRCh37_chr11:68462220-68462721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68474187-68474945 Neighboring gene galanin and GMAP prepropeptide Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:68479758-68480258 Neighboring gene testis expressed metallothionein like protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:68518115-68519100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3678 Neighboring gene uncharacterized LOC124902699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68531008-68531810 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:68549035-68550234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68565881-68566380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:68609778-68610303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5144 Neighboring gene uncharacterized LOC124902700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3685 Neighboring gene long intergenic non-protein coding RNA 2701

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of carnitine palmitoyltransferase 1A (CPT1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    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
    Vpr vpr HIV-1 Vpr enhances PPARbeta/delta-induced PDK4, carnitine palmitoyltransferase I (CPT1), and acetyl-coenzyme A acyltransferase 2 (ACAA2) mRNA expression in cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carnitine O-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carnitine O-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables carnitine O-palmitoyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables carnitine O-palmitoyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables palmitoleoyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aflatoxin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carnitine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carnitine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carnitine shuttle TAS
    Traceable Author Statement
    more info
     
    involved_in cellular response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of lipid storage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to alkaloid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to tetrachloromethane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in mitochondrial outer membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    carnitine O-palmitoyltransferase 1, liver isoform
    Names
    CPT I
    CPTI-L
    carnitine palmitoyltransferase 1A (liver)
    carnitine palmitoyltransferase I, liver
    NP_001027017.1
    NP_001867.2
    XP_016872709.1
    XP_047282332.1
    XP_047282333.1
    XP_054223669.1
    XP_054223670.1
    XP_054223671.1

    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_011801.2 RefSeqGene

      Range
      7361..94394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031847.3NP_001027017.1  carnitine O-palmitoyltransferase 1, liver isoform isoform 2

      See identical proteins and their annotated locations for NP_001027017.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternative 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (2) with a different C-terminus compared to isoform 1.
      Source sequence(s)
      AP000808, AP003732
      Consensus CDS
      CCDS31624.1
      UniProtKB/TrEMBL
      B2RAQ8
      Related
      ENSP00000365803.2, ENST00000376618.6
      Conserved Domains (2) summary
      pfam00755
      Location:171745
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    2. NM_001876.4NP_001867.2  carnitine O-palmitoyltransferase 1, liver isoform isoform 1

      See identical proteins and their annotated locations for NP_001867.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AP000808, AP003732
      Consensus CDS
      CCDS8185.1
      UniProtKB/Swiss-Prot
      P50416, Q8TCU0, Q9BWK0
      UniProtKB/TrEMBL
      B2RAQ8
      Related
      ENSP00000265641.4, ENST00000265641.10
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      68754620..68844277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426377.1XP_047282333.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X2

    2. XM_017017220.2XP_016872709.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X3

      UniProtKB/Swiss-Prot
      P50416, Q8TCU0, Q9BWK0
      UniProtKB/TrEMBL
      B2RAQ8
      Related
      ENSP00000446108.1, ENST00000539743.5
      Conserved Domains (2) summary
      pfam00755
      Location:171761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    3. XM_047426376.1XP_047282332.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      68760743..68850531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367695.1XP_054223670.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X2

    2. XM_054367696.1XP_054223671.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X3

      UniProtKB/Swiss-Prot
      P50416, Q8TCU0, Q9BWK0
    3. XM_054367694.1XP_054223669.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1