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CPT2 carnitine palmitoyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 1376, updated on 8-Jul-2018
Official Symbol
CPT2provided by HGNC
Official Full Name
carnitine palmitoyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:2330
See related
Ensembl:ENSG00000157184 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]
Expression
Ubiquitous expression in liver (RPKM 19.1), colon (RPKM 17.3) and 25 other tissues See more
Orthologs
See CPT2 in Genome Data Viewer
Location:
1p32.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 solute carrier family 1 member 7 Neighboring gene uncharacterized LOC105378724 Neighboring gene carnitine palmitoyltransferase 2 pseudogene 1 Neighboring gene chromosome 1 open reading frame 123 Neighboring gene uncharacterized LOC100507564 Neighboring gene mago homolog, exon junction complex subunit Neighboring gene uncharacterized LOC105378728 Neighboring gene LDL receptor related protein 8

  • 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 Jun 15 11:32:44 2016

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 Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine O-palmitoyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
carnitine O-palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carnitine O-palmitoyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
carnitine shuttle TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
carnitine O-palmitoyltransferase 2, mitochondrial
Names
CPT II
carnitine palmitoyltransferase II
testicular secretory protein Li 13
NP_000089.1
NP_001317518.1

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 RefSeqGene

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000089.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL606760, BU629852, U09648
    Consensus CDS
    CCDS575.1
    UniProtKB/Swiss-Prot
    P23786
    UniProtKB/TrEMBL
    A0A140VK13
    Related
    ENSP00000360541.3, OTTHUMP00000010493, ENST00000371486.3, OTTHUMT00000024757
    Conserved Domains (1) summary
    pfam00755
    Location:49648
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001330589.1NP_001317518.1  carnitine O-palmitoyltransferase 2, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL606760
    Consensus CDS
    CCDS81326.1
    UniProtKB/TrEMBL
    A0A1B0GTB8
    Related
    ENSP00000489631.1, ENST00000636867.1
    Conserved Domains (1) summary
    pfam00755
    Location:49625
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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