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

Gene ID: 1374, updated on 15-May-2022

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
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Genomic context

See CPT1A in Genome Data Viewer
Location:
11q13.3
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68754620..68844277, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68760743..68848036, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68522088..68609384, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1260 Neighboring gene testis expressed metallothionein like protein Neighboring gene uncharacterized LOC124902699 Neighboring gene uncharacterized LOC124902700 Neighboring gene long intergenic non-protein coding RNA 2701

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carnitine O-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 palmitoleoyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carnitine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 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 antibiotic IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient levels 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 integral component of mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane HDA PubMed 
located_in mitochondrial outer membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
carnitine O-palmitoyltransferase 1, liver isoform
Names
CPT I
CPTI-L
carnitine palmitoyltransferase 1A (liver)
carnitine palmitoyltransferase I, liver
NP_001027017.1
NP_001867.2
XP_016872709.1
XP_047282332.1
XP_047282333.1

NCBI Reference Sequences (RefSeq)

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_011801.1 RefSeqGene

    Range
    5001..92312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031847.3NP_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/Swiss-Prot
    P50416
    Related
    ENSP00000365803.2, ENST00000376618.6
    Conserved Domains (2) summary
    pfam00755
    Location:171745
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. NM_001876.4NP_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
    UniProtKB/TrEMBL
    A0A024R5F4, B2RAQ8, Q8WZ48
    Related
    ENSP00000265641.4, ENST00000265641.10
    Conserved Domains (2) summary
    pfam00755
    Location:171761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    68754620..68844277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    UniProtKB/Swiss-Prot
    P50416
    UniProtKB/TrEMBL
    A0A024R5F4
    Related
    ENSP00000446108.1, ENST00000539743.5
    Conserved Domains (2) summary
    pfam00755
    Location:171761
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:146
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. XM_047426376.1XP_047282332.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    68760743..68848036 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)