2.7.1.33

pantothenate kinase

pantothenate kinase

coenzyme A ( CoA ) biosynthetic pathway

Human (9606)

20p13[80025 ], 1p36.32[55229 ], 5q34[79646 ], 10q23.31[53354 ],

"Pantothenate kinase (PanK) is thought to catalyze the first rate-limiting step in CoA biosynthesis." (14523052)

5465

transcriptional factor;PPARalpha transcription factor(5465)

"PPARalpha transcription factor as a major factor governing hepatic CoA levels by specific modulation of PANK1alpha gene expression" (14523052)

phosphorylation;PanK4

"PanK4 interacts with Pkm2 and thereby may modulate the glucose metabolism through regulating the activity of Pkm2." (16132722)

phosphorylation;

phosphorylation;

phosphorylation;

GO:0005739 (C) mitochondrion [Q9BZ23 ];
GO:0004594 (F) pantothenate kinase activity [Q9H999, Q9BZ23, Q8TE04, Q9NVE7 ];
GO:0005737 (C) cytoplasm [Q9H999, Q9NVE7 ];
GO:0015937 (P) coenzyme A biosynthetic process [Q9H999, Q9BZ23, Q8TE04, Q9NVE7 ];
GO:0005829 (C) cytosol [Q8TE04 ];
GO:0005524 (F) ATP binding [Q9H999, Q9BZ23, Q8TE04, Q9NVE7 ];

Kidney [07312, 07549, 05857, 07313 ];
Ubiquitous [05857 ];
Heart [07312, 07549, 05857, 07313 ];
Lung [05857, 07313 ];
Testis [07549 ];
Pancreas [07312, 05857, 07313 ];
Skeletal muscle [07549 ];
Liver [07312, 07549, 05857, 07313 ];
Placenta [07312, 05857, 07313 ];
Retina [05857 ];
Brain [07312, 07549, 05857, 07313 ];
Muscle [07312, 05857, 07313 ];

Highly expressed in the liver [Q9H999 ];

Ubiquitously expressed with higher expression in the muscle [Q9NVE7 ];

Ubiquitous [Q9BZ23 ];

Isoform 1 is expressed at high levels in brain, heart, kidney, liver, skeletal muscle and testis. Isoform 2 is detected at much lower levels in kidney, liver, brain and testis and is not detected in heart or skeletal muscle [Q8TE04 ];

mitochondrion [Q9BZ23 ];

cytoplasm [Q9H999, Q9BZ23, Q8TE04, Q9NVE7 ];

Defects in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]. HARP is a rare syndrome with many clinical similarities to PKAN [Q9BZ23 ];

Defects in PANK2 are the cause of pantothenate kinase-associated neurodegeneration (PKAN) [MIM:234200];
formerly known as Hallervorden-Spatz syndrome (HSS). PKAN is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, and a relentlessly progressive course. Atypical PKAN is diagnosed in individuals who may not fit with the diagnostic criteria of PKAN yet have radiographic or pathologic evidence of increased basal ganglia iron [Q9BZ23 ];

Q8TE04; Q9BZ23; Q9H999; Q9NVE7

53354; 55229; 79646; 80025

05857; 07312; 07549; 07313