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

Gene ID: 1374, updated on 5-Jan-2020

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
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

Genomic context

See CPT1A in Genome Data Viewer
Location:
11q13.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68754620..68844410, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68522088..68611878, 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 long intergenic non-protein coding RNA 2701 Neighboring gene mitochondrial ribosomal protein L21

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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
carnitine O-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine O-palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
palmitoleoyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carnitine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carnitine shuttle TAS
Traceable Author Statement
more info
 
cellular response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm TAS
Traceable Author Statement
more info
 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of mitochondrial outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 O-palmitoyltransferase I, liver isoform
carnitine palmitoyltransferase 1A (liver)
carnitine palmitoyltransferase I, liver
NP_001027017.1
NP_001867.2
XP_005273819.1
XP_005273820.1
XP_016872709.1

NCBI Reference Sequences (RefSeq)

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_001031847.2NP_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)
    BC000185, DB063502
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    68754620..68844410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273763.1XP_005273820.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X2

    Conserved Domains (2) summary
    pfam00755
    Location:203777
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:3378
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  2. XM_005273762.3XP_005273819.1  carnitine O-palmitoyltransferase 1, liver isoform isoform X1

    Conserved Domains (2) summary
    pfam00755
    Location:203793
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
    pfam16484
    Location:3378
    CPT_N; Carnitine O-palmitoyltransferase N-terminus
  3. XM_017017220.1XP_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
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