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    CPT1B carnitine palmitoyltransferase 1B [ Homo sapiens (human) ]

    Gene ID: 1375, updated on 8-Aug-2016
    Official Symbol
    CPT1Bprovided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:2329
    See related
    Ensembl:ENSG00000205560 HPRD:09065; MIM:601987; Vega:OTTHUMG00000137390
    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
    CPTI; CPT1M; MCPT1; CPT1-M; CPTI-M; M-CPT1; MCCPT1
    Summary
    The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
    Orthologs
    Location:
    22q13.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (50568861..50578667, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51007290..51017096, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene kelch domain containing 7B Neighboring gene synaptonemal complex central element protein 3 Neighboring gene uncharacterized LOC107985568 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene choline kinase beta Neighboring gene CHKB antisense RNA 1 (head to head)

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    NHGRI GWA Catalog
    Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
    NHGRI GWA Catalog

    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

    • AMPK signaling, organism-specific biosystem (from WikiPathways)
      AMPK signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
    • AMPK signaling pathway, organism-specific biosystem (from KEGG)
      AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • AMPK signaling pathway, conserved biosystem (from KEGG)
      AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
      Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
      Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Fatty Acid Beta Oxidation, organism-specific biosystem (from WikiPathways)
      Fatty Acid Beta Oxidation, organism-specific biosystemComplete fatty acid beta-oxidation pathway for saturated and unsaturated fatty acids, developed and curated internally by BiGCaT Bioinformatics. This pathway was previously split into three parts p...
    • Fatty acid degradation, organism-specific biosystem (from KEGG)
      Fatty acid degradation, organism-specific biosystem
      Fatty acid degradation
    • Fatty acid degradation, conserved biosystem (from KEGG)
      Fatty acid degradation, conserved biosystem
      Fatty acid degradation
    • Fatty acid metabolism, organism-specific biosystem (from KEGG)
      Fatty acid metabolism, organism-specific biosystem
      Fatty acid metabolism
    • Fatty acid metabolism, conserved biosystem (from KEGG)
      Fatty acid metabolism, conserved biosystem
      Fatty acid metabolism
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
      Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
    • Glucagon signaling pathway, conserved biosystem (from KEGG)
      Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
    • 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)
      Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PPAR signaling pathway, organism-specific biosystem (from KEGG)
      PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • PPAR signaling pathway, conserved biosystem (from KEGG)
      PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Retinoic Acid, organism-specific biosystem (from REACTOME)
      Signaling by Retinoic Acid, organism-specific biosystemVitamin A (retinol) can be metabolised into active retinoid metabolites that function either as a chromophore in vision or in regulating gene expression transcriptionally and post-transcriptionally. ...
    • mitochondrial L-carnitine shuttle, organism-specific biosystem (from BIOCYC)
      mitochondrial L-carnitine shuttle, organism-specific biosystemGeneral Background The : FAO-PWY pathway occurs in the mitochondrial matrix and plays an important role in energy production. During fasting, fatty acids are used for hepatic ketone-body synthesis. ...
    • mitochondrial L-carnitine shuttle, conserved biosystem (from BIOCYC)
      mitochondrial L-carnitine shuttle, conserved biosystemGeneral Background The mitochondrial |FRAME: CARNITINE| shuttle pathway is part of the cellular |FRAME: CARNITINE| system that regulates pools of |FRAME: CO-A| derivatives. This system is comprised...
    • phosphatidylcholine biosynthesis, organism-specific biosystem (from BIOCYC)
      phosphatidylcholine biosynthesis, organism-specific biosystem
      phosphatidylcholine biosynthesis
    • phosphatidylethanolamine biosynthesis II, organism-specific biosystem (from BIOCYC)
      phosphatidylethanolamine biosynthesis II, organism-specific biosystem
      phosphatidylethanolamine biosynthesis II
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough CHKB-CPT1B

    Readthrough gene: CHKB-CPT1B, Included gene: CHKB

    Homology

    Clone Names

    • FLJ55729, FLJ58750, KIAA1670

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carnitine O-palmitoyltransferase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    carnitine shuttle TAS
    Traceable Author Statement
    more info
     
    fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of 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, muscle isoform
    Names
    carnitine O-palmitoyltransferase 1B
    carnitine O-palmitoyltransferase I, mitochondrial muscle isoform
    carnitine palmitoyltransferase 1B (muscle)
    carnitine palmitoyltransferase I-like protein
    NP_001138606.1
    NP_001138607.1
    NP_001138609.1
    NP_004368.1
    NP_689451.1
    NP_689452.1

    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_012643.1 RefSeqGene

      Range
      5001..14807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145134.1NP_001138606.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform c

      See identical proteins and their annotated locations for NP_001138606.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AK297866, BU615917, DC373481, U62317
      Consensus CDS
      CCDS46734.1
      UniProtKB/Swiss-Prot
      Q92523
      Related
      ENSP00000409342, ENST00000457250
      Conserved Domains (2) summary
      pfam00755
      Location:154727
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    2. NM_001145135.1NP_001138607.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      See identical proteins and their annotated locations for NP_001138607.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' and 3' UTRs, compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode the same isoform (a).
      Source sequence(s)
      AK223174, BC142954, BU615917, DC373481, U62317
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      Q92523
      UniProtKB/TrEMBL
      A0A024R4W7, A5PLL0, Q53FV7
      Conserved Domains (2) summary
      pfam00755
      Location:173761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    3. NM_001145137.1NP_001138609.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      See identical proteins and their annotated locations for NP_001138609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode the same isoform (a).
      Source sequence(s)
      BC142954, BI560870, BU615917, D87812
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      Q92523
      UniProtKB/TrEMBL
      A0A024R4W7, A5PLL0
      Related
      ENSP00000385486, OTTHUMP00000196979, ENST00000405237, OTTHUMT00000317421
      Conserved Domains (2) summary
      pfam00755
      Location:173761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    4. NM_004377.3NP_004368.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      See identical proteins and their annotated locations for NP_004368.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, 3, 6, and 8 all encode isoform a.
      Source sequence(s)
      AW297964, BU615917, CB961274, Y08683
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      Q92523
      UniProtKB/TrEMBL
      A0A024R4W7
      Related
      ENSP00000379011, OTTHUMP00000196838, ENST00000395650, OTTHUMT00000317264
      Conserved Domains (2) summary
      pfam00755
      Location:173761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    5. NM_152245.2NP_689451.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      See identical proteins and their annotated locations for NP_689451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode isoform a.
      Source sequence(s)
      AI142100, BU615917, DC373481, U62317, U66828
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      Q92523
      UniProtKB/TrEMBL
      A0A024R4W7
      Conserved Domains (2) summary
      pfam00755
      Location:173761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus
    6. NM_152246.2NP_689452.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      See identical proteins and their annotated locations for NP_689452.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1, 2, 3, 6, and 8 all encode isoform a.
      Source sequence(s)
      BU615917, CB961274, Y08682
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      Q92523
      UniProtKB/TrEMBL
      A0A024R4W7
      Related
      ENSP00000312189, OTTHUMP00000196978, ENST00000312108, OTTHUMT00000317420
      Conserved Domains (2) summary
      pfam00755
      Location:173761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:146
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    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_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      50568861..50578667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      50966023..50975829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001145136.1: Suppressed sequence

      Description
      NM_001145136.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_152247.1: Suppressed sequence

      Description
      NM_152247.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.