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    CPT2 carnitine palmitoyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 1376, updated on 8-Jul-2021

    Summary

    Official Symbol
    CPT2provided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:2330
    See related
    Ensembl:ENSG00000157184 MIM:600650
    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; IIAE4; CPTASE
    Summary
    The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 19.1), colon (RPKM 17.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CPT2 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53196824..53214197)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53662496..53679869)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 1 member 7 Neighboring gene VISTA enhancer hs2585 Neighboring gene uncharacterized LOC105378724 Neighboring gene carnitine palmitoyltransferase 2 pseudogene 1 Neighboring gene uncharacterized LOC100507564 Neighboring gene CXXC motif containing zinc binding protein Neighboring gene mago homolog, exon junction complex subunit Neighboring gene LDL receptor related protein 8

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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 fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development 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 cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    carnitine O-palmitoyltransferase 2, mitochondrial
    Names
    CPT II
    carnitine palmitoyltransferase II
    testicular secretory protein Li 13
    NP_000089.1
    NP_001317518.1

    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_008035.1 RefSeqGene

      Range
      5396..22769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000098.3NP_000089.1  carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BU629852, U09648
      Consensus CDS
      CCDS575.1
      UniProtKB/Swiss-Prot
      P23786
      UniProtKB/TrEMBL
      A0A140VK13
      Related
      ENSP00000360541.3, ENST00000371486.4
      Conserved Domains (1) summary
      pfam00755
      Location:49648
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
    2. NM_001330589.2NP_001317518.1  carnitine O-palmitoyltransferase 2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL606760
      Consensus CDS
      CCDS81326.1
      UniProtKB/TrEMBL
      A0A1B0GTB8
      Related
      ENSP00000489631.1, ENST00000636867.1
      Conserved Domains (1) summary
      pfam00755
      Location:49625
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      53196824..53214197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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