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

Gene ID: 1375, updated on 23-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50568861..50578612, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51079388..51089140, complement)
105.20220307 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. CPT1B, a metabolic molecule, is also an independent risk factor in CN-AML. Ling Q, et al. Cancer Biomark, 2023. PMID 36938722
  2. Low carnitine palmitoyltransferase 1 activity is a risk factor for narcolepsy type 1 and other hypersomnia. Honda M, et al. Sleep, 2022 Oct 10. PMID 35810398
  3. Targeting CPT1B as a potential therapeutic strategy in castration-resistant and enzalutamide-resistant prostate cancer. Abudurexiti M, et al. Prostate, 2020 Sep. PMID 32648618
  4. Multi-omics Integration Analysis Robustly Predicts High-Grade Patient Survival and Identifies CPT1B Effect on Fatty Acid Metabolism in Bladder Cancer. Vantaku V, et al. Clin Cancer Res, 2019 Jun 15. PMID 30846479, Free PMC Article
  5. High expression of CPT1b in skeletal muscle in metabolically healthy older subjects. Bétry C, et al. Diabetes Metab, 2019 Apr. PMID 29657112

See all (61) 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)

Genotypes

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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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_2023_10

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

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