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

    Gene ID: 1374, updated on 8-Aug-2016
    Official Symbol
    CPT1Aprovided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:2328
    See related
    Ensembl:ENSG00000110090 HPRD:02755; MIM:600528; Vega:OTTHUMG00000167892
    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]
    Orthologs
    Location:
    11q13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (68754620..68844410, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68522088..68611878, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984343 Neighboring gene galanin and GMAP prepropeptide Neighboring gene testis expressed metallothionein like protein Neighboring gene uncharacterized LOC105369364 Neighboring gene mitochondrial ribosomal protein L21

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

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      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
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    • Fatty acid degradation, organism-specific biosystem (from KEGG)
      Fatty acid degradation, organism-specific biosystem
      Fatty acid degradation
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      Fatty acid degradation
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      Fatty acid metabolism, organism-specific biosystem
      Fatty acid metabolism
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      Fatty acid metabolism, conserved biosystem
      Fatty acid metabolism
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    • Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystem (from REACTOME)
      Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystemThe mitochondrial carnitine system catalyzes the transport of long-chain fatty acids into the mitochondrial matrix where they undergo beta oxidation. This transport system consists of the malonyl-Co...
    • Insulin resistance, organism-specific biosystem (from KEGG)
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      Mitochondrial LC-Fatty Acid Beta-Oxidation, organism-specific biosystem
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carnitine O-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carnitine O-palmitoyltransferase activity TAS
    Traceable Author Statement
    more info
     
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    palmitoleoyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    carnitine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carnitine shuttle TAS
    Traceable Author Statement
    more info
     
    cellular response to fatty acid IEA
    Inferred from Electronic Annotation
    more info
     
    circadian rhythm TAS
    Traceable Author Statement
    more info
     
    eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    carnitine O-palmitoyltransferase 1, liver isoform
    Names
    CPT I
    CPTI-L
    carnitine O-palmitoyltransferase I, liver isoform
    carnitine palmitoyltransferase 1A (liver)
    carnitine palmitoyltransferase I, liver
    NP_001027017.1
    NP_001867.2

    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_011801.1 RefSeqGene

      Range
      5001..92312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031847.2NP_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)
      BC000185, DB063502
      Consensus CDS
      CCDS31624.1
      UniProtKB/Swiss-Prot
      P50416
      Related
      ENSP00000365803, ENST00000376618
      Conserved Domains (1) summary
      pfam00755
      Location:170745
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    2. NM_001876.3NP_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)
      AA632225, AJ420378, AK172798, AK309464, AK314301, AP003732, DB063502
      Consensus CDS
      CCDS8185.1
      UniProtKB/Swiss-Prot
      P50416
      UniProtKB/TrEMBL
      A0A024R5F4, B2RAQ8, Q8WZ48
      Related
      ENSP00000265641, OTTHUMP00000237552, ENST00000265641, OTTHUMT00000397457
      Conserved Domains (1) summary
      pfam00755
      Location:170763
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      68754620..68844410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273763.1XP_005273820.1  

      Conserved Domains (1) summary
      pfam00755
      Location:202777
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    2. XM_005273762.2XP_005273819.1  

      Conserved Domains (1) summary
      pfam00755
      Location:202795
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    3. XM_017017220.1XP_016872709.1  

      Related
      ENSP00000446108, OTTHUMP00000237197, ENST00000539743, OTTHUMT00000396854

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      68405839..68493144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)