CPT1A carnitine palmitoyltransferase 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CPT1Aprovided by HGNC
Official Full Name: carnitine palmitoyltransferase 1Aprovided by HGNC
Primary source: HGNC:HGNC:2328
See related: Ensembl:ENSG00000110090 MIM:600528; AllianceGenome:HGNC:2328
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: CPT1; CPT1-L; L-CPT1
Summary: The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.3

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (68754620..68844277, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (68760743..68850531, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (68522088..68609384, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oral Microbiome and CPT1A Function in Fatty Acid Metabolism in Oral Cancer.
Title: Oral Microbiome and CPT1A Function in Fatty Acid Metabolism in Oral Cancer.
CircHIPK3/miR-124 affects angiogenesis in early-onset preeclampsia via CPT1A-mediated fatty acid oxidation.
Title: CircHIPK3/miR-124 affects angiogenesis in early-onset preeclampsia via CPT1A-mediated fatty acid oxidation.
CPT1A loss disrupts BCAA metabolism to confer therapeutic vulnerability in TP53-mutated liver cancer.
Title: CPT1A loss disrupts BCAA metabolism to confer therapeutic vulnerability in TP53-mutated liver cancer.
Augmenter of liver regeneration knockout aggravates tubular ferroptosis and macrophage activation by regulating carnitine palmitoyltransferase-1A-induced lipid metabolism in diabetic nephropathy.
Title: Augmenter of liver regeneration knockout aggravates tubular ferroptosis and macrophage activation by regulating carnitine palmitoyltransferase-1A-induced lipid metabolism in diabetic nephropathy.
CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells.
Title: CPT1A mediates the succinylation of SP5 which activates transcription of PDPK1 to promote the viability and glycolysis of prostate cancer cells.
Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer's disease at CPT1A locus.
Title: Multi-tissue epigenetic analysis identifies distinct associations underlying insulin resistance and Alzheimer's disease at CPT1A locus.
CPT1A-mediated fatty acid oxidation confers cancer cell resistance to immune-mediated cytolytic killing.
Title: CPT1A-mediated fatty acid oxidation confers cancer cell resistance to immune-mediated cytolytic killing.
DNA Methylation Near CPT1A and Changes in Triglyceride-rich Lipoproteins in Response to Weight-loss Diet Interventions.
Title: DNA Methylation Near CPT1A and Changes in Triglyceride-rich Lipoproteins in Response to Weight-loss Diet Interventions.
NQO1/CPT1A promotes the progression of pancreatic adenocarcinoma via fatty acid oxidation.
Title: NQO1/CPT1A promotes the progression of pancreatic adenocarcinoma via fatty acid oxidation.
Carnitine palmitoyltransferase 1A promotes mitochondrial fission by enhancing MFF succinylation in ovarian cancer.
Title: Carnitine palmitoyltransferase 1A promotes mitochondrial fission by enhancing MFF succinylation in ovarian cancer.

Submit: New GeneRIF Correction See all GeneRIFs (112)

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

Associated conditions

Description	Tests
Carnitine palmitoyl transferase 1A deficiency MedGen: C1829703 OMIM: 255120 GeneReviews: Carnitine Palmitoyltransferase 1A Deficiency	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Replication interactions

Interaction	Pubs
Knockdown of carnitine palmitoyltransferase 1A (CPT1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D11S3357 (e-PCR)
- UniSTS:152599

WI-11974 (e-PCR)
- UniSTS:13100

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

D11S1183 (e-PCR)
- UniSTS:11855

L18426 (e-PCR)
- UniSTS:34648

RH79802 (e-PCR)
- UniSTS:88688

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-32786 (e-PCR)
- UniSTS:45532

D11S1033 (e-PCR)
- UniSTS:4061

GDB:631813 (e-PCR)
- UniSTS:158430

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	IDA Inferred from Direct Assay more info	PubMed
enables carnitine O-palmitoyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables carnitine O-palmitoyltransferase activity	TAS Traceable Author Statement more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in aflatoxin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in carnitine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in carnitine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in carnitine shuttle	TAS Traceable Author Statement more info
involved_in cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in eating behavior	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
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 glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid storage	IEA Inferred from Electronic Annotation more info
involved_in response to alkaloid	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to tetrachloromethane	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
located_in mitochondrial outer membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	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, liver isoform

Names: CPT I; CPTI-L; carnitine palmitoyltransferase 1A (liver); carnitine palmitoyltransferase I, liver; succinyltransferase CPT1A

NP_001027017.1

EC 2.3.1.21

NP_001867.2

EC 2.3.1.21

XP_016872709.1

EC 2.3.1.21

XP_047282332.1

EC 2.3.1.21

XP_047282333.1

EC 2.3.1.21

XP_054223669.1

EC 2.3.1.21

XP_054223670.1

EC 2.3.1.21

XP_054223671.1

EC 2.3.1.21

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

NG_011801.2 RefSeqGene

Range

7361..94394

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031847.3 → NP_001027017.1 carnitine O-palmitoyltransferase 1, liver isoform isoform 2

See identical proteins and their annotated locations for NP_001027017.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternative 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (2) with a different C-terminus compared to isoform 1.

Source sequence(s)

AP000808, AP003732

Consensus CDS

CCDS31624.1

UniProtKB/TrEMBL

B2RAQ8

Related

ENSP00000365803.2, ENST00000376618.6

Conserved Domains (2) summary

pfam00755
Location:171 → 745

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 46

CPT_N; Carnitine O-palmitoyltransferase N-terminus
NM_001876.4 → NP_001867.2 carnitine O-palmitoyltransferase 1, liver isoform isoform 1

See identical proteins and their annotated locations for NP_001867.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AP000808, AP003732

Consensus CDS

CCDS8185.1

UniProtKB/Swiss-Prot

P50416, Q8TCU0, Q9BWK0

UniProtKB/TrEMBL

B2RAQ8

Related

ENSP00000265641.4, ENST00000265641.10

Conserved Domains (2) summary

pfam00755
Location:171 → 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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

68754620..68844277 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426377.1 → XP_047282333.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X2

UniProtKB/TrEMBL

B2RAQ8
XM_017017220.2 → XP_016872709.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X3

UniProtKB/Swiss-Prot

P50416, Q8TCU0, Q9BWK0

UniProtKB/TrEMBL

B2RAQ8

Related

ENSP00000446108.1, ENST00000539743.5

Conserved Domains (2) summary

pfam00755
Location:171 → 761

Carn_acyltransf; Choline/Carnitine o-acyltransferase

pfam16484
Location:1 → 46

CPT_N; Carnitine O-palmitoyltransferase N-terminus
XM_047426376.1 → XP_047282332.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X1

UniProtKB/TrEMBL

B2RAQ8

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

68760743..68850531 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367695.1 → XP_054223670.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X2

UniProtKB/TrEMBL

B2RAQ8
XM_054367696.1 → XP_054223671.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X3

UniProtKB/Swiss-Prot

P50416, Q8TCU0, Q9BWK0

UniProtKB/TrEMBL

B2RAQ8
XM_054367694.1 → XP_054223669.1 carnitine O-palmitoyltransferase 1, liver isoform isoform X1

UniProtKB/TrEMBL

B2RAQ8