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Literature summary extracted from

  • Kotzbauer, P.T.; Truax, A.C.; Trojanowski, J.Q.; Lee, V.M.
    Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2 (2005), J. Neurosci., 25, 689-698.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.7.1.33 expression of wild-type His/myc-tagged isozyme PanK2 and of mutant enzymes in mitochondria of QBI 293 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.7.1.33 E134G naturally occurring disease-related point mutation which leads to reduced enzyme activity, and altered processing and stability of the mutant PanK2, reconstruction by site-sirected mutagenesis Homo sapiens
2.7.1.33 G219V naturally occurring disease-related point mutation which leads to reduced enzyme activity, and altered processing and stability of the mutant PanK2, reconstruction by site-sirected mutagenesis Homo sapiens
2.7.1.33 G521R naturally occurring disease-related point mutation which leads to reduced enzyme activity, and altered processing and stability of the mutant PanK2, reconstruction by site-sirected mutagenesis Homo sapiens
2.7.1.33 additional information identification of naturally occuring pantothenate kinase 2 mutant in patients with neurodegenerative disease in brain with iron accumulation, formerly termed Hallervorden-Spatz disease, identification of other disease related point mutations which lead to reduced enzyme activity, mutations alter processing, stability, and catalytic activity of the mutant PanK2 Homo sapiens
2.7.1.33 S471N naturally occurring disease-related point mutation which leads to reduced enzyme activity, and altered processing and stability of the mutant PanK2, reconstruction by site-sirected mutagenesis Homo sapiens
2.7.1.33 T234A naturally occurring disease-related point mutation which leads to reduced enzyme activity, and altered processing and stability of the mutant PanK2, reconstruction by site-sirected mutagenesis Homo sapiens
2.7.1.33 T528M naturally occurring disease-related point mutation which leads to reduced enzyme activity, and altered processing and stability of the mutant PanK2, reconstruction by site-sirected mutagenesis Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
2.7.1.33 additional information feedback inhibition by acyl-CoAs Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.7.1.33 dendrite
-
 Homo sapiens 30425
-
2.7.1.33 mitochondrion several isoforms of brain PanK2 Homo sapiens 5739
-
2.7.1.33 additional information multiple subcellular distribution of multiple enzyme forms Homo sapiens
-
-

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
2.7.1.33 48000
-
 x * 48000, recombinant His/myc-tagged isozyme PanK2, SDS-PAGE, x * 63000, recombinant unprocessed PanK2, SDS-PAGE Homo sapiens
2.7.1.33 63000
-
 x * 48000, recombinant His/myc-tagged isozyme PanK2, SDS-PAGE, x * 63000, recombinant unprocessed PanK2, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.7.1.33 ATP + (R)-pantothenate Homo sapiens first step in coenzyme A biosynthesis ADP + (R)-4'-phosphopantothenate
-
 ?
2.7.1.33 additional information Homo sapiens naturally occuring pantothenate kinase 2 mutant in patients with neurodegenerative disease in brain with iron accumulation, formerly termed Hallervorden-Spatz disease ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.7.1.33 Homo sapiens
-
 multiple genes, multiple enzyme forms
-

Posttranslational Modification

EC Number Posttranslational Modification Comment Organism
2.7.1.33 proteolytic modification several isoforms of PanK2 are produced by sequential proteolytic cleavage, identification of cleavage sites for the mitochondrial processing peptidase, overview Homo sapiens

Purification (Commentary)

EC Number Purification (Comment) Organism
2.7.1.33 recombinant His/myc-tagged isozyme PanK2 from mitochondria of QBI 293 cells by ion exchange and protein A affinity chromatography and gel filtration Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.7.1.33 brain subtissue distribution of several isoforms of PanK2, overview Homo sapiens
-
2.7.1.33 additional information naturally occuring pantothenate kinase 2 mutant in patients with neurodegenerative disease in brain with iron accumulation, formerly termed Hallervorden-Spatz disease Homo sapiens
-
2.7.1.33 neuron
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.7.1.33 ATP + (R)-pantothenate
-
 Homo sapiens ADP + (R)-4'-phosphopantothenate
-
 ?
2.7.1.33 ATP + (R)-pantothenate first step in coenzyme A biosynthesis Homo sapiens ADP + (R)-4'-phosphopantothenate
-
 ?
2.7.1.33 additional information naturally occuring pantothenate kinase 2 mutant in patients with neurodegenerative disease in brain with iron accumulation, formerly termed Hallervorden-Spatz disease Homo sapiens ?
-
 ?

Subunits

EC Number Subunits Comment Organism
2.7.1.33 ? x * 48000, recombinant His/myc-tagged isozyme PanK2, SDS-PAGE, x * 63000, recombinant unprocessed PanK2, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
2.7.1.33 PanK2
-
 Homo sapiens
2.7.1.33 pantothenate kinase 2
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.7.1.33 ATP
-
 Homo sapiens