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Literature summary for 2.7.1.33 extracted from

  • Johnson, M.A.; Kuo, Y.M.; Westaway, S.K.; Parker, S.M.; Ching, K.H.; Gitschier, J.; Hayflick, S.J.
    Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration (2004), Ann. N. Y. Acad. Sci., 1012, 282-298.
    View publication on PubMed
Search for more literature for 2.7.1.33

Cloned(Commentary)

Cloned (Comment) Organism
PANK2, 2 translational strat sites, CAG and CUG initiation codons, expression of PANK2 as EGFP-tagged protein in HeLa cell mitochondria, and in COS-7 cells as His/myc-tagged enzyme Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information an allelic variant mislocates and thereby causes disease Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion PANK2 contains a mitochondrial targeting signal Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + (R)-pantothenate Homo sapiens
-
 ADP + (R)-4'-phosphopantothenate
-
 ?
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

Organism UniProt Comment Textmining
Homo sapiens Q9BZ23 the 5' end of PANK2 gene, Hallervorden-Spatz syndrome, and a CpG island, complete sequence; enzyme form PANK2, 2 allelic variants
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Purification (Commentary)

Purification (Comment) Organism
native enzyme partially by preparation of mitochondria Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Homo sapiens
-
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
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + (R)-pantothenate
-
 Homo sapiens ADP + (R)-4'-phosphopantothenate
-
 ?
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 ?
-
 ?

Synonyms

Synonyms Comment Organism
PanK2
-
 Homo sapiens
pantothenate kinase 2
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens