Details for: CPT1B

Gene ID: 1375

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: CPT1B

Ensembl ID: ENSG00000205560

Description: carnitine palmitoyltransferase 1B

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • cardiac muscle cell CL0000746
    CSI 2.22
    rCSI 3.18%
    PRS 99.07

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [CPT1B](/details-gene/1375) (carnitine palmitoyltransferase 1B) encodes the muscle isoform of a key mitochondrial enzyme, carnitine O-palmitoyltransferase. Located on the outer mitochondrial membrane, this enzyme is the rate-limiting step in the transport of long-chain fatty acids into the mitochondrial matrix for beta-oxidation. Its function is particularly critical in tissues with high energy demands that rely on fatty acid metabolism, such as cardiac and skeletal muscle. Consistent with this role, expression data shows [CPT1B](/details-gene/1375) is a highly significant marker for [cardiac muscle cell](/details-cell/CL0000746). Genetic defects in [CPT1B](/details-gene/1375) are associated with CPT1B deficiency ([601987](https://omim.org/entry/601987)), a metabolic disorder affecting muscle energy production. ## Cellular Roles and Expression Landscape **Overall**, the expression profile of [CPT1B](/details-gene/1375) indicates a highly specialized function in muscle tissue. The gene's most significant expression is observed in [cardiac muscle cell](/details-cell/CL0000746) (CSI: 2.22). This high significance underscores its indispensable role in providing a continuous supply of energy for cardiac contraction through the oxidation of fatty acids. The specificity of its expression suggests that while other isoforms exist, [CPT1B](/details-gene/1375) is the primary enzyme responsible for this process in the heart and, by extension, skeletal muscle. This muscle-specific expression was established through early characterization studies of the gene and its cDNA ([Link](https://doi.org/10.1016/0167-4781(96)00069-3), [Link](https://doi.org/10.1016/s0167-4781(97)00037-7)). ## Pathways and Molecular Function The primary molecular function of the [CPT1B](/details-gene/1375) protein is [carnitine o-palmitoyltransferase activity](/details-go/GO:0004095), localizing it to the [mitochondrial outer membrane](/details-go/GO:0005741). This enzymatic activity is a central component of the [Carnitine shuttle](/details-go/GO:0006853), a biological process also detailed in the Reactome pathway [R-HSA-200425](https://reactome.org/content/detail/R-HSA-200425). By catalyzing the conversion of long-chain fatty acyl-CoAs to acylcarnitines, [CPT1B](/details-gene/1375) facilitates their transport across the mitochondrial membrane. This is the committed step for [fatty acid beta-oxidation](/details-go/GO:0006635) within the [mitochondrion](/details-go/GO:0005739). Therefore, [CPT1B](/details-gene/1375) is integral to the broader pathways of [fatty acid metabolic process](/details-go/GO:0006631) and the overarching [metabolism of lipids](/details-reactome/R-HSA-556833). Functional studies using yeast-expressed human protein have confirmed these enzymatic properties ([Link](https://doi.org/10.1006/abbi.1997.0314)). ## Research Directions Given the critical role of [CPT1B](/details-gene/1375) in cardiac energy homeostasis, research should focus on its contribution to cardiovascular diseases linked to metabolic dysregulation. ### Proposed Hypotheses 1. Polymorphisms in the [CPT1B](/details-gene/1375) gene that subtly reduce enzymatic efficiency may not cause overt monogenic disease but could act as significant risk factors for the development of heart failure, particularly in the context of metabolic comorbidities such as diabetes or obesity. 2. The regulation of [CPT1B](/details-gene/1375) expression and activity is a key adaptive mechanism in the heart's response to ischemic stress. Dysregulation of this process could contribute to myocardial injury by preventing the necessary metabolic switch away from fatty acid oxidation. ### Experimental Approach To test the hypothesis that [CPT1B](/details-gene/1375) variants are risk factors for heart failure, a patient-derived induced pluripotent stem cell (iPSC) model could be employed. iPSCs from patients with idiopathic dilated cardiomyopathy and healthy controls could be differentiated into [cardiac muscle cell](/details-cell/CL0000746). Using CRISPR-Cas9, specific [CPT1B](/details-gene/1375) variants identified in patient cohorts could be introduced into control cell lines. The functional consequences would be assessed by measuring fatty acid oxidation rates using a Seahorse XF Analyzer, evaluating mitochondrial structure and function via microscopy and respirometry, and assessing cellular contractility under both baseline and metabolic stress (e.g., high-fat or glucose-deprived media) conditions. ### Therapeutic Potential [CPT1B](/details-gene/1375) represents a promising therapeutic target for metabolic cardiomyopathies. For inherited CPT1B deficiency ([601987](https://omim.org/entry/601987)), developing small-molecule activators or gene therapies aimed at restoring enzymatic function could be curative. In the context of heart failure, where fatty acid oxidation can be impaired, targeted activation of [CPT1B](/details-gene/1375) might improve cardiac energetics and function. Conversely, in acute myocardial ischemia, inhibiting [CPT1B](/details-gene/1375) could be beneficial by forcing a metabolic shift to glycolysis, which is more oxygen-efficient, thereby protecting the heart from ischemic damage. The muscle-specific expression of [CPT1B](/details-gene/1375) suggests that pharmacological modulation could be achieved with a reduced risk of systemic, off-target metabolic effects.

Genular Protein ID: 3003127712

Symbol: CPT1B_HUMAN

Name: Carnitine O-palmitoyltransferase 1, muscle isoform

UniProtKB Accession Codes:

Q92523 B7Z4U4 B7Z5T8 E9PCP2 Q13389 Q99655 Q9BY90

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 7 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 4 ExpressionAtlas 1 GO 9 Gene3D 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 2 RefSeq 6 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8679700

Title: Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I.

PubMed ID: 8679700

DOI: 10.1016/0167-4781(96)00069-3

PubMed ID: 9344464

Title: Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I.

PubMed ID: 9344464

DOI: 10.1006/abbi.1997.0314

PubMed ID: 9070950

Title: Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

PubMed ID: 9070950

DOI: 10.1006/geno.1996.4539

PubMed ID: 9199240

Title: Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I.

PubMed ID: 9199240

DOI: 10.1016/s0167-4781(97)00037-7

PubMed ID: 9224698

Title: Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I.

PubMed ID: 9224698

DOI: 10.1016/s0014-5793(97)00561-9

PubMed ID: 11258795

Title: Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping.

PubMed ID: 11258795

DOI: 10.1093/dnares/8.1.1

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

Sequence Information:

  • Length: 772
  • Mass: 87801
  • Checksum: F7E3ED40643DFC81
  • Sequence:
    • MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT 
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG 
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR 
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE 
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG 
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL 
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA 
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI 
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL 
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG 
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL 
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY 
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS

Genular Protein ID: 1248533555

Symbol: A5PLL0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A5PLL0

Database IDs:

ARBA 20 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 5 Gene3D 3 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PROSITE 2 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 2 Rhea 2 RuleBase 1 SAM 1 SUPFAM 1 UniPathway 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 772
  • Mass: 87702
  • Checksum: 887E0F85537222C6
  • Sequence:
    • MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT 
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG 
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR 
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE 
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG 
IVPMCSYQME GMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL 
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA 
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI 
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL 
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG 
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL 
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY 
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS

Genular Protein ID: 1268362392

Symbol: Q53FV7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53FV7

Database IDs:

ARBA 20 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 4 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 5 Gene3D 3 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PROSITE 2 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 1 Rhea 2 RuleBase 1 SAM 1 SUPFAM 1 UniPathway 1

Citations:

PubMed ID: 8125298

Title: Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.

PubMed ID: 8125298

DOI: 10.1016/0378-1119(94)90802-8

PubMed ID: 9373149

Title: Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.

PubMed ID: 9373149

DOI: 10.1016/S0378-1119(97)00411-3

Sequence Information:

  • Length: 772
  • Mass: 87786
  • Checksum: 70B6F159BB023883
  • Sequence:
    • MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI LRGVYPGSPT 
SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT PQTRALLSMA IFSTGVWVTG 
IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR 
VSATIQRYLE SVRPLLDDEE YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE 
YIYLRGRSPL MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG 
IVPMCSYQME RMFNTTRIPG NDTDVLQHLS DSRHVAVYHK GRFFKLWLYE GARLLKPQDL 
EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF SSGKNKAALE AIERAAFFVA 
LDEESYSYDP EDEASLSLYG KALLHGNCYN RWFDKSFTLI SFKNGQLGLN AEHAWADAPI 
IGHLWEFVLG TDSFHLGYTE TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI KSSYQVAKAL 
ADDVELYCFQ FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG 
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG AGIDRHLFCL 
YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE QHPNHLGAGG GFGPVADDGY 
GVSYMIAGEN TIFFHISSKF SSSETNAQRF GNHIRKALLD IADLFQVPKA YS