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

Gene ID: 1374, updated on 27-Sep-2014
Official Symbol
CPT1Aprovided by HGNC
Official Full Name
carnitine palmitoyltransferase 1A (liver)provided by HGNC
Primary source
HGNC:HGNC:2328
See related
Ensembl:ENSG00000110090; HPRD:02755; MIM:600528; Vega:OTTHUMG00000167892
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]
See CPT1A in Epigenomics, MapViewer
Location:
11q13.2
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (68754620..68841931, 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 galanin/GMAP prepropeptide Neighboring gene metallothionein-like 5, testis-specific (tesmin) Neighboring gene mitochondrial ribosomal protein L21 Neighboring gene immunoglobulin mu binding protein 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carnitine O-palmitoyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carnitine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carnitine shuttle TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
cellular response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
eating behavior IEA
Inferred from Electronic Annotation
more info
 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 
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
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
carnitine O-palmitoyltransferase 1, liver isoform
Names
carnitine O-palmitoyltransferase 1, liver isoform
CPT I
CPTI-L
carnitine palmitoyltransferase I, liver
carnitine O-palmitoyltransferase I, liver isoform
NP_001027017.1
NP_001867.2

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 

    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 proteins identical to 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, ENST00000376618
    Conserved Domains (1) summary
    pfam00755
    Location:170745
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001876.3NP_001867.2  carnitine O-palmitoyltransferase 1, liver isoform isoform 1

    See proteins identical to NP_001867.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA632225, AJ420378, AK172798, AK309464, AK314301, AP003732, DB063502
    Consensus CDS
    CCDS8185.1
    UniProtKB/TrEMBL
    A0A024R5F4
    UniProtKB/TrEMBL
    B2RAQ8
    UniProtKB/Swiss-Prot
    P50416
    UniProtKB/TrEMBL
    Q8WZ48
    Related
    ENSP00000265641, OTTHUMP00000237552, ENST00000265641, OTTHUMT00000397457
    Conserved Domains (1) summary
    pfam00755
    Location:170763
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    68754620..68841931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273763.1XP_005273820.1  

    Conserved Domains (1) summary
    pfam00755
    Location:202777
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. XM_005273762.1XP_005273819.1  

    Conserved Domains (1) summary
    pfam00755
    Location:202795
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    64858312..64945656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    68405839..68493144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)