Carnitine palmitoyltransferase II

(Redirected from CPT2 (gene)) Mammalian protein found in humans

CPT2

Identifiers

CPT2, CPT1, CPTASE, IIAE4, carnitine palmitoyltransferase 2

External IDs

OMIM: 600650; MGI: 109176; HomoloGene: 77; GeneCards: CPT2; OMA:CPT2 - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)

Band	1p32.3	Start	53,196,792 bp
Band	1p32.3	End	53,214,197 bp

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)

Band	4 C7\|4 50.18 cM	Start	107,761,178 bp
Band	4 C7\|4 50.18 cM	End	107,780,807 bp

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

mucosa of transverse colon

jejunal mucosa

right lobe of liver

rectum

gingival epithelium

right adrenal gland

palpebral conjunctiva

right adrenal cortex

duodenum

germinal epithelium

Top expressed in

brown adipose tissue

myocardium of ventricle

right ventricle

cardiac muscles

cardiac muscle tissue of left ventricle

interventricular septum

left lobe of liver

intercostal muscle

pyloric antrum

epithelium of stomach

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	acyltransferase activity transferase activity carnitine O-palmitoyltransferase activity
Cellular component	membrane nucleolus nucleoplasm mitochondrion mitochondrial inner membrane
Biological process	carnitine shuttle fatty acid metabolic process lipid metabolism fatty acid beta-oxidation regulation of lipid metabolic process positive regulation of cold-induced thermogenesis
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


1376


12896

Ensembl


ENSG00000157184


ENSMUSG00000028607

UniProt


P23786


P52825

RefSeq (mRNA)


NM_000098 NM_001330589


NM_009949

RefSeq (protein)


NP_000089 NP_001317518


NP_034079

Location (UCSC)

Chr 1: 53.2 – 53.21 Mb

Chr 4: 107.76 – 107.78 Mb

PubMed search

Wikidata

View/Edit Human

View/Edit Mouse

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.

Function

Carnitine palmitoyltransferase II precursor (CPT2) is a mitochondrial membrane protein which is transported to the mitochondrial inner membrane. CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency.

References

^ GRCh38: Ensembl release 89: ENSG00000157184 – Ensembl, May 2017
^ GRCm38: Ensembl release 89: ENSMUSG00000028607 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Minoletti F, Colombo I, Martin AL, Di Donato S, Taroni F, Finocchiaro G, Pandolfo M (Sep 1992). "Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization". Genomics. 13 (4): 1372–1374. doi:10.1016/0888-7543(92)90076-5. PMID 1339389. (Retracted, see doi:10.1006/geno.1994.1606, PMID 7896284)
^ "Entrez Gene: CPT2 carnitine palmitoyltransferase II".

Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L (2000). "Carnitine palmitoyltransferase deficiencies". Mol. Genet. Metab. 68 (4): 424–440. doi:10.1006/mgme.1999.2938. PMID 10607472.
van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B (2000). "Genomics of the human carnitine acyltransferase genes". Mol. Genet. Metab. 71 (1–2): 139–153. doi:10.1006/mgme.2000.3055. PMID 11001805.
Sigauke E, Rakheja D, Kitson K, Bennett MJ (2003). "Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review". Lab. Invest. 83 (11): 1543–1554. doi:10.1097/01.LAB.0000098428.51765.83. PMID 14615409.
Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S (1992). "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8429–8433. Bibcode:1992PNAS...89.8429T. doi:10.1073/pnas.89.18.8429. PMC 49933. PMID 1528846.
Finocchiaro G, Taroni F, Rocchi M, Liras Martin A, Colombo I, Tarelli GT, DiDonato S (1992). "cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (23): 10981. doi:10.1073/pnas.88.23.10981. PMC 53056. PMID 1961767.
Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S (1991). "cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (2): 661–665. Bibcode:1991PNAS...88..661F. doi:10.1073/pnas.88.2.661. PMC 50872. PMID 1988962.
Finocchiaro G, Colombo I, DiDonato S (1991). "Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver". FEBS Lett. 274 (1–2): 163–166. doi:10.1016/0014-5793(90)81354-Q. PMID 2174799. S2CID 23190622.
Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F (1995). "Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations". Hum. Mol. Genet. 4 (1): 19–29. doi:10.1093/hmg/4.1.19. PMID 7711730.
Britton CH, Schultz RA, Zhang B, Esser V, Foster DW, McGarry JD (1995). "Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene". Proc. Natl. Acad. Sci. U.S.A. 92 (6): 1984–1988. Bibcode:1995PNAS...92.1984B. doi:10.1073/pnas.92.6.1984. PMC 42407. PMID 7892212.
Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, Zuffardi O, Taroni F (1995). "Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32". Genomics. 24 (1): 195–197. doi:10.1006/geno.1994.1605. PMID 7896283.
Montermini L, Wang H, Verderio E, Taroni F, DiDonato S, Finocchiaro G (1994). "Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene". Biochim. Biophys. Acta. 1219 (1): 237–40. doi:10.1016/0167-4781(94)90280-1. PMID 8086471.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S (1993). "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients". Nat. Genet. 4 (3): 314–320. doi:10.1038/ng0793-314. PMID 8358442. S2CID 6726959.
Verderio E, Cavadini P, Pandolfo M, DiDonato S, Taroni F (1993). "Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene". Hum. Mol. Genet. 2 (3): 334. doi:10.1093/hmg/2.3.334. PMID 8499929.
Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F (1996). "Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression". Am. J. Hum. Genet. 58 (5): 971–8. PMC 1914604. PMID 8651281.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K (1998). "Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes". Hum. Mutat. 11 (5): 377–386. doi:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. PMID 9600456. S2CID 43700243.
Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C (1998). "Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency". Mol. Genet. Metab. 64 (4): 229–236. doi:10.1006/mgme.1998.2711. PMID 9758712.
Taggart RT, Smail D, Apolito C, Vladutiu GD (1999). "Novel mutations associated with carnitine palmitoyltransferase II deficiency". Hum. Mutat. 13 (3): 210–220. doi:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0. PMID 10090476. S2CID 6801003.

v t e Transferases: acyltransferases (EC 2.3)
2.3.1: other than amino-acyl groups	acetyltransferases: Acetyl-Coenzyme A acetyltransferase N-Acetylglutamate synthase Choline acetyltransferase Dihydrolipoyl transacetylase Acetyl-CoA C-acyltransferase Beta-galactoside transacetylase Chloramphenicol acetyltransferase N-acetyltransferase Serotonin N-acetyl transferase HGSNAT ARD1A Histone acetyltransferase P300/CBP NAT2 palmitoyltransferases: Carnitine O-palmitoyltransferase CPT1 CPT2 Serine C-palmitoyltransferase SPTLC1 SPTLC2 other: Acyltransferase like 2 Aminolevulinic acid synthase Beta-ketoacyl-ACP synthase Glyceronephosphate O-acyltransferase Lecithin—cholesterol acyltransferase Glycerol-3-phosphate O-acyltransferase 1-acylglycerol-3-phosphate O-acyltransferase 2-acylglycerol-3-phosphate O-acyltransferase ABHD5
2.3.2: Aminoacyltransferases	Gamma-glutamyl transpeptidase Peptidyl transferase Transglutaminase Tissue transglutaminase Keratinocyte transglutaminase Factor XIII
2.3.3: converted into alkyl on transfer	Citrate synthase Decylcitrate synthase Citrate (Re)-synthase Decylhomocitrate synthase 2-methylcitrate synthase 2-ethylmalate synthase 3-ethylmalate synthase ATP citrate lyase Malate synthase HMG-CoA synthase HMGCS2 2-hydroxyglutarate synthase 3-propylmalate synthase 2-isopropylmalate synthase Homocitrate synthase Sulfoacetaldehyde acetyltransferase

Transferases: acyltransferases (EC 2.3)

2.3.1: other than amino-acyl groups

2.3.2: Aminoacyltransferases

2.3.3: converted into alkyl on transfer

Metabolism: lipid metabolism / fatty acid metabolism, triglyceride and fatty acid enzymes

Synthesis

Malonyl-CoA synthesis	ATP citrate lyase Acetyl-CoA carboxylase
Fatty acid synthesis/ Fatty acid synthase	Beta-ketoacyl-ACP synthase Β-Ketoacyl ACP reductase 3-Hydroxyacyl ACP dehydrase Enoyl ACP reductase
Fatty acid desaturases	Stearoyl-CoA desaturase-1
Triacyl glycerol	Glycerol-3-phosphate dehydrogenase Thiokinase

Degradation

Acyl transport

Beta oxidation

General	Acyl CoA dehydrogenase (ACADL ACADM ACADS ACADVL ACADSB) Enoyl-CoA hydratase MTP: HADH HADHA HADHB Acetyl-CoA C-acyltransferase
Unsaturated	Enoyl CoA isomerase 2,4 Dienoyl-CoA reductase
Odd chain	Propionyl-CoA carboxylase
Other	Hydroxyacyl-Coenzyme A dehydrogenase

To acetyl-CoA

Malonyl-CoA decarboxylase

Aldehydes

Long-chain-aldehyde dehydrogenase

Mitochondrial proteins

Outer membrane

fatty acid degradation	Carnitine palmitoyltransferase I Long-chain-fatty-acid—CoA ligase
tryptophan metabolism	Kynureninase
monoamine neurotransmitter metabolism	Monoamine oxidase

Intermembrane space

Inner membrane

oxidative phosphorylation	Coenzyme Q – cytochrome c reductase Cytochrome c NADH dehydrogenase Succinate dehydrogenase
pyrimidine metabolism	Dihydroorotate dehydrogenase
mitochondrial shuttle	Malate-aspartate shuttle Glycerol phosphate shuttle
steroidogenesis	Cholesterol side-chain cleavage enzyme Steroid 11-beta-hydroxylase Aldosterone synthase
other	Glutamate aspartate transporter Glycerol-3-phosphate dehydrogenase ATP synthase Carnitine palmitoyltransferase II Uncoupling protein

Matrix

citric acid cycle	Citrate synthase Aconitase Isocitrate dehydrogenase Oxoglutarate dehydrogenase complex Succinyl coenzyme A synthetase Fumarase Malate dehydrogenase
anaplerotic reactions	Aspartate transaminase Glutamate dehydrogenase Pyruvate dehydrogenase complex
urea cycle	Carbamoyl phosphate synthetase I Ornithine transcarbamylase N-Acetylglutamate synthase
alcohol metabolism	ALDH2
PMPCB

Other/to be sorted

Mitochondrial DNA

Complex I	MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6
Complex III	MT-CYB
Complex IV	MT-CO1 MT-CO2 MT-CO3
ATP synthase	MT-ATP6 MT-ATP8
tRNA	MT-TA MT-TC MT-TD MT-TE MT-TF MT-TG MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TM MT-TN MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MT-TY

see also mitochondrial diseases

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