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CPT2 carnitine palmitoyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 1376, updated on 11-Sep-2014
Official Symbol
CPT2provided by HGNC
Official Full Name
carnitine palmitoyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:2330
See related
Ensembl:ENSG00000157184; HPRD:02802; MIM:600650; Vega:OTTHUMG00000008942
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; IIAE4; CPTASE
Summary
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
See CPT2 in Epigenomics, MapViewer
Location:
1p32
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (53196429..53214197)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53662101..53679869)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724114 Neighboring gene solute carrier family 1 (glutamate transporter), member 7 Neighboring gene carnitine palmitoyltransferase 2 pseudogene 1 Neighboring gene chromosome 1 open reading frame 123 Neighboring gene uncharacterized LOC100507564 Neighboring gene mago-nashi homolog, proliferation-associated (Drosophila) Neighboring gene low density lipoprotein receptor-related protein 8, apolipoprotein e receptor

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Go to the HIV-1, Human Protein 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 NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
carnitine shuttle TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
carnitine O-palmitoyltransferase 2, mitochondrial
Names
carnitine O-palmitoyltransferase 2, mitochondrial
CPT II
carnitine palmitoyltransferase II
NP_000089.1

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_008035.1 

    Range
    5001..22769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000098.2NP_000089.1  carnitine O-palmitoyltransferase 2, mitochondrial precursor

    See proteins identical to NP_000089.1

    Status: REVIEWED

    Source sequence(s)
    AL606760, BU629852, U09648
    Consensus CDS
    CCDS575.1
    UniProtKB/Swiss-Prot
    P23786
    Related
    ENSP00000360541, OTTHUMP00000010493, ENST00000371486, OTTHUMT00000024757
    Conserved Domains (1) summary
    pfam00755
    Location:48649
    Blast Score: 1850
    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_000001.11 

    Range
    53196429..53214197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270484.1XP_005270541.1  

    Conserved Domains (1) summary
    pfam00755
    Location:48626
    Blast Score: 1746
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    51777752..51795523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    53779095..53796864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)