Carnitine palmitoyltransferase II

Mammalian protein found in humans
CPT2
Identifiers
AliasesCPT2, CPT1, CPTASE, IIAE4, carnitine palmitoyltransferase 2
External IDsOMIM: 600650 MGI: 109176 HomoloGene: 77 GeneCards: CPT2
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CPT2
Genomic location for CPT2
Band1p32.3Start53,196,792 bp[1]
End53,214,197 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for CPT2
Genomic location for CPT2
Band4 C7|4 50.18 cMStart107,761,178 bp[2]
End107,780,807 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • jejunal mucosa

  • right lobe of liver

  • rectum

  • right adrenal gland

  • palpebral conjunctiva

  • duodenum

  • germinal epithelium

  • secondary oocyte

  • left adrenal gland

  • kidney tubule
Top expressed in
  • brown adipose tissue

  • myocardium of ventricle

  • right ventricle

  • cardiac muscles

  • interventricular septum

  • left lobe of liver

  • intercostal muscle

  • pyloric antrum

  • epithelium of stomach

  • thoracic diaphragm
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
SpeciesHumanMouse
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 MbChr 4: 107.76 – 107.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.[5][6]

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.[6]

Acyl-CoA from cytosol to the mitochondrial matrix

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157184 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028607 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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)
  6. ^ a b "Entrez Gene: CPT2 carnitine palmitoyltransferase II".

Further reading

  • 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
2.3.1: other than amino-acyl groups2.3.2: Aminoacyltransferases2.3.3: converted into alkyl on transfer
  • v
  • t
  • e
Synthesis
Malonyl-CoA synthesis
Fatty acid synthesis/
Fatty acid synthase
Fatty acid desaturases
Triacyl glycerol
Degradation
Acyl transport
Beta oxidation
General
Unsaturated
Odd chain
Other
To acetyl-CoA
Aldehydes
  • v
  • t
  • e
Mitochondrial proteins
Outer membrane
fatty acid degradation
tryptophan metabolism
monoamine neurotransmitter
metabolism
Intermembrane space
Inner membrane
oxidative phosphorylation
pyrimidine metabolism
mitochondrial shuttle
steroidogenesis
other
Matrix
citric acid cycle
anaplerotic reactions
urea cycle
alcohol metabolism
Other/to be sorted
Mitochondrial DNA
Complex I
Complex III
Complex IV
ATP synthase
tRNA
see also mitochondrial diseases