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

    Gene ID: 1375, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CPT1Bprovided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:2329
    See related
    Ensembl:ENSG00000205560 MIM:601987; AllianceGenome:HGNC:2329
    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]
    Expression
    Broad expression in heart (RPKM 59.4), testis (RPKM 39.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPT1B in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50568861..50578612, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51079388..51089140, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51007290..51017041, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13996 Neighboring gene kelch domain containing 7B Neighboring gene synaptonemal complex central element protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:50999771-50999969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13997 Neighboring gene uncharacterized LOC107985568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19331 Neighboring gene CHKB-CPT1B readthrough (NMD candidate) Neighboring gene Sharpr-MPRA regulatory region 1531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14002 Neighboring gene choline kinase beta Neighboring gene CHKB divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The influence of serum selenium in differential epigenetic and transcriptional regulation of CPT1B gene in women with obesity. Watanabe LM, et al. J Trace Elem Med Biol, 2024 May. PMID 38183920
    2. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. Yamazaki N, et al. Biochim Biophys Acta, 1996 Jun 7. PMID 8679700
    3. Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I. van der Leij FR, et al. Biochim Biophys Acta, 1997 May 30. PMID 9199240
    4. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. Yamazaki N, et al. FEBS Lett, 1997 Jun 16. PMID 9224698
    5. Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I. Zhu H, et al. Arch Biochem Biophys, 1997 Nov 1. PMID 9344464

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The influence of serum selenium in differential epigenetic and transcriptional regulation of CPT1B gene in women with obesity.
      Title: The influence of serum selenium in differential epigenetic and transcriptional regulation of CPT1B gene in women with obesity.
    2. Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers.
      Title: Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers.
    3. ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus.
      Title: ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus.
    4. CPT1B, a metabolic molecule, is also an independent risk factor in CN-AML.
      Title: CPT1B, a metabolic molecule, is also an independent risk factor in CN-AML.
    5. Low carnitine palmitoyltransferase 1 activity is a risk factor for narcolepsy type 1 and other hypersomnia.
      Title: Low carnitine palmitoyltransferase 1 activity is a risk factor for narcolepsy type 1 and other hypersomnia.
    6. Resting skeletal muscle PNPLA2 (ATGL) and CPT1B are associated with peak fat oxidation rates in men and women but do not explain observed sex differences.
      Title: Resting skeletal muscle PNPLA2 (ATGL) and CPT1B are associated with peak fat oxidation rates in men and women but do not explain observed sex differences.
    7. The impact of CPT1B rs470117, LEPR rs1137101 and BDNF rs6265 polymorphisms on the risk of developing obesity in an Italian population.
      Title: The impact of CPT1B rs470117, LEPR rs1137101 and BDNF rs6265 polymorphisms on the risk of developing obesity in an Italian population.
    8. Targeting CPT1B as a potential therapeutic strategy in castration-resistant and enzalutamide-resistant prostate cancer.
      Title: Targeting CPT1B as a potential therapeutic strategy in castration-resistant and enzalutamide-resistant prostate cancer.
    9. Low expression of CPT1B in high-grade urinary bladder cancer was associated with low fatty acid oxidation and low acyl carnitine levels.
      Title: Multi-omics Integration Analysis Robustly Predicts High-Grade Patient Survival and Identifies CPT1B Effect on Fatty Acid Metabolism in Bladder Cancer.
    10. CPT1b overexpression could be helping to maintain metabolic health with increasing age. Thus, it is suggested that targeting CPT1b expression might be an interesting strategy to counteract frailty at an early stage. In addition, future studies should examine the role of sirtuin in CPT1b expression regulation.
      Title: High expression of CPT1b in skeletal muscle in metabolically healthy older subjects.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI 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.
    EBI GWAS Catalog
    Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    enables carnitine O-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carnitine O-palmitoyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables carnitine O-palmitoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables carnitine O-palmitoyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carnitine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in carnitine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in carnitine shuttle TAS
    Traceable Author Statement
    more info
    		  
    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 fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in long-chain fatty acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to blue light ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HDA PubMed 
    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

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    Preferred Names
    carnitine O-palmitoyltransferase 1, muscle isoform
    Names
    carnitine O-palmitoyltransferase 1B
    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

    NCBI Reference Sequences (RefSeq)

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    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_012643.1 RefSeqGene

      Range
      5241..14807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145134.2 → NP_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
      Consensus CDS
      CCDS46734.1
      UniProtKB/TrEMBL
      A5PLL0
      Related
      ENSP00000409342.1, ENST00000457250.5
      Conserved Domains (2) summary
      pfam00755
      Location:154 → 727
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:1 → 46
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    2. NM_001145135.2 → NP_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
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      Conserved Domains (2) summary
      pfam00755
      Location:173 → 761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:1 → 46
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    3. NM_001145137.2 → NP_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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      Related
      ENSP00000385486.3, ENST00000405237.7
      Conserved Domains (2) summary
      pfam00755
      Location:173 → 761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:1 → 46
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    4. NM_004377.4 → NP_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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      Related
      ENSP00000379011.2, ENST00000395650.6
      Conserved Domains (2) summary
      pfam00755
      Location:173 → 761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:1 → 46
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    5. NM_152245.3 → NP_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, U66828
      Consensus CDS
      CCDS14098.1
      UniProtKB/Swiss-Prot
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      Conserved Domains (2) summary
      pfam00755
      Location:173 → 761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:1 → 46
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    6. NM_152246.3 → NP_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
      B7Z4U4, B7Z5T8, E9PCP2, Q13389, Q92523, Q99655, Q9BY90
      UniProtKB/TrEMBL
      A5PLL0
      Related
      ENSP00000312189.8, ENST00000312108.12
      Conserved Domains (2) summary
      pfam00755
      Location:173 → 761
      Carn_acyltransf; Choline/Carnitine o-acyltransferase
      pfam16484
      Location:1 → 46
      CPT_N; Carnitine O-palmitoyltransferase N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50568861..50578612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51079388..51089140 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92523.2 GenPept UniProtKB/Swiss-Prot:Q92523

    Gene LinkOut

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