Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

    Gene ID: 1375, updated on 11-May-2013
    Official Symbol
    CPT1Bprovided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 1B (muscle)provided by HGNC
    Primary source
    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]
    Location :
    22q13.33
    Sequence :
    Chromosome: 22; NC_000022.10 (51007290..51017096, complement)
    See CPT1B in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene kelch domain containing 7B Neighboring gene synaptonemal complex central element protein 3 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene choline kinase beta Neighboring gene CHKB antisense RNA 1 (head to head)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome. Auinger A, et al. Br J Nutr, 2013 Mar 14. PMID 22809552.
    2. Exertional rhabdomyolysis: a clinical review with a focus on genetic influences. Landau ME, et al. J Clin Neuromuscul Dis, 2012 Mar. PMID 22538307.
    3. TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy. Han F, et al. Sleep Med, 2012 Mar. PMID 22177342.
    4. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031.
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624.

    See all (40) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. present results confirm the association of carnitine palmitoyltransferase 1B coding polymorphisms with the metabolic syndrome
      Title: A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome.
    2. Genetic mutations causative for McArdle disease, carnitine palmitoyl transferase deficiency 2, myoadenylate deaminase deficiency, and malignant hyperthermia have all been associated with Exertional rhabdomyolysis.
      Title: Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.
    3. The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.
      Title: TCRA, P2RY11, and CPT1B/CHKB associations in Chinese narcolepsy.
    4. C305 was replaceable with aspartic acid but that substitution with other amino acids caused both loss of function and reduced expression.
      Title: Replacement of C305 in heart/muscle-type isozyme of human carnitine palmitoyltransferase I with aspartic acid and other amino acids.
    5. There is a novel association between common nonsynonymous coding variants in CPT1B and ectopic skeletal muscle fat among middle-aged and older African ancestry men.
      Title: Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men.
    6. Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy was significantly associated with SNP rs5770917 (located between CPT1B and CHKB) and HLA-DRB1*1501-DQB1*0602 haplotype
      Title: Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. A single nucleotide polymorphism located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).
      Title: Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
    Submit: New GeneRIF Correction See all (17)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein 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 Protein Interaction Database

    Markers

    Genotypes

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    carnitine shuttle TAS
    Traceable Author Statement
    more info
    		  
    cellular lipid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Preferred Names
    carnitine O-palmitoyltransferase 1, muscle isoform
    Names
    carnitine O-palmitoyltransferase 1, muscle isoform
    carnitine palmitoyltransferase I-like protein
    carnitine O-palmitoyltransferase I, mitochondrial muscle isoform
    NP_001138606.1
    NP_001138607.1
    NP_001138608.1
    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_001145134.1 → NP_001138606.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform c

      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 (1) summary
      pfam00755
      Location:154 – 729
      Blast Score: 1959
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    2. NM_001145135.1 → NP_001138607.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      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/TrEMBL
      A5PLL0
      UniProtKB/TrEMBL
      Q53FV7
      UniProtKB/Swiss-Prot
      Q92523
      Conserved Domains (1) summary
      pfam00755
      Location:172 – 763
      Blast Score: 2028
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    3. NM_001145136.1 → NP_001138608.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' and 3' UTRs, and uses two alternate splice sites resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. This results in a shorter isoform (d), compared to isoform a.
      Source sequence(s)
      AK299395, BC142954, BU615917, DC373481, U62317
      Consensus CDS
      CCDS46735.1
      UniProtKB/TrEMBL
      A5PLL0
      UniProtKB/Swiss-Prot
      Q92523
      Related
      ENSP00000414713, ENST00000440709
      Conserved Domains (1) summary
      pfam00755
      Location:355 – 682
      Blast Score: 1167
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    4. NM_001145137.1 → NP_001138609.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      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/TrEMBL
      A5PLL0
      UniProtKB/Swiss-Prot
      Q92523
      Related
      ENSP00000385486, OTTHUMP00000196979, ENST00000405237, OTTHUMT00000317421
      Conserved Domains (1) summary
      pfam00755
      Location:172 – 763
      Blast Score: 2028
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    5. NM_004377.3 → NP_004368.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest 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
      Related
      ENSP00000379011, OTTHUMP00000196838, ENST00000395650, OTTHUMT00000317264
      Conserved Domains (1) summary
      pfam00755
      Location:172 – 763
      Blast Score: 2028
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    6. NM_152245.2 → NP_689451.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      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
      Related
      ENSP00000353945, ENST00000360719
      Conserved Domains (1) summary
      pfam00755
      Location:172 – 763
      Blast Score: 2028
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    7. NM_152246.2 → NP_689452.1  carnitine O-palmitoyltransferase 1, muscle isoform isoform a

      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
      Related
      ENSP00000312189, OTTHUMP00000196978, ENST00000312108, OTTHUMT00000317420
      Conserved Domains (1) summary
      pfam00755
      Location:172 – 763
      Blast Score: 2028
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000022.10 Reference GRCh37.p10 Primary Assembly

      Range
      51007290..51017096, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      33898289..33908095, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018933.1 Alternate CHM1_1.0

      Range
      34950293..34960099, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152247.1: Suppressed sequence

      Description
      NM_152247.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    genomic AB003286.1 BAA21492.1
    genomic ABBA01042624.1 (22243..32049) None
    genomic AMYH01012917.1 (6184..15990) None
    genomic CH471138.1 EAW73568.1
      EAW73569.1
      EAW73570.1
      EAW73571.1
      EAW73572.1
    genomic HH961808.1 CBX51377.1
    genomic U62317.2 AAB03343.1
    mRNA AI142100.1 None
    mRNA AK223174.1 BAD96894.1
    mRNA AK291316.1 BAF84005.1
    mRNA AK297866.1 BAH12680.1
    mRNA AK299395.1 BAH13024.1
    mRNA AW297964.1 None
    mRNA BC142954.1 AAI42955.1
    mRNA BG426428.1 None
    mRNA BI560870.1 None
    mRNA BU615917.1 None
    mRNA CB961274.1 None
    mRNA D87812.1 BAA13461.1
    mRNA DC373481.1 None
    mRNA U62733.1 AAC51122.1
    mRNA U66828.1 AAB40651.1
    mRNA Y08682.1 CAA69938.1
    mRNA Y08683.1 CAA69939.1
    other-genetic BC143071.1 AAI43072.1
    other-genetic BC150318.1 AAI50319.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92523.2 GenPept UniProtKB/Swiss-Prot:Q92523

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...