Carnitine O-palmitoyltransferase 2, mitochondrial

Function

Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites. Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters.

Classification

Family (Pfam)

PF00755 Carn_acyltransf

InterPro

Carn_acyl_trans, Carn_acyl_trans_N, CAT-like_dom_sf, Cho/carn_acyl_trans, Cho/carn_acyl_trans_2

Functional cluster

Nucleotide & Amino-Acid Biosynthesis Enzymes

Gene Ontology · 11

• GO:0005743 mitochondrial inner membrane
• GO:0005759 mitochondrial matrix
• GO:0005739 mitochondrion
• GO:0016746 acyltransferase activity
• GO:0008458 carnitine O-octanoyltransferase activity
• GO:0004095 carnitine O-palmitoyltransferase activity
• GO:0009437 carnitine metabolic process
• GO:0006853 carnitine shuttle
• GO:0006635 fatty acid beta-oxidation
• GO:0001676 long-chain fatty acid metabolic process
• GO:0120162 positive regulation of cold-induced thermogenesis

Disease associations

• carnitine palmitoyl transferase II deficiency, myopathic form MONDO:0009704
• carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0010914
• carnitine palmitoyl transferase II deficiency, neonatal form MONDO:0012136
• encephalopathy, acute, infection-induced, susceptibility to, 4 MONDO:0013633

Drugs targeting this protein · 1

• PERHEXILINE MALEATE inhibitor

Related proteins · sequence + function similarity

• Carnitine O-palmitoyltransferase 2, mitochondrial 1.00
• Carnitine O-palmitoyltransferase 2, mitochondrial 0.98
• Carnitine O-palmitoyltransferase 2, mitochondrial 0.98
• Carnitine O-palmitoyltransferase 2, mitochondrial 0.97
• Carnitine O-palmitoyltransferase 2, mitochondrial 0.97
• Carnitine O-palmitoyltransferase 2, mitochondrial 0.95
• Carnitine O-palmitoyltransferase 2, mitochondrial 0.94
• Carnitine O-palmitoyltransferase 1, liver isoform 0.87
• Carnitine O-palmitoyltransferase 1, liver isoform 0.87
• Carnitine O-palmitoyltransferase 1, liver isoform 0.85
• Carnitine O-palmitoyltransferase 1, muscle isoform 0.85
• Carnitine O-palmitoyltransferase 1, muscle isoform 0.85

Co-cited proteins · studied together in the literature

• Calmodulin-like protein 5 1 shared papers
• Nuclear pore membrane glycoprotein 210 1 shared papers
• HEAT repeat-containing protein 1 1 shared papers
• Small ribosomal subunit protein mS27 1 shared papers
• ATP-binding cassette sub-family E member 1 1 shared papers
• Sequestosome-1 1 shared papers

Literature · 27 cited papers

• N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
• Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency. Biochem. Biophys. Res. Commun. · 2014
• An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J. Proteomics · 2014
• Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. J. Hum. Genet. · 2011
• Initial characterization of the human central proteome. BMC Syst. Biol. · 2011
• Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling. Biochim. Biophys. Acta · 2010
• Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. Sci. Signal. · 2010
• Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. Hum. Mutat. · 2008
• Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data. J. Proteome Res. · 2007
• The DNA sequence and biological annotation of human chromosome 1. Nature · 2006
• Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett. · 2005
• Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann. Neurol. · 2005
• … and 15 more in the literature graph