InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PANK2

Summary

InnateDB Protein

IDBP-474468.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PANK2

Protein Name

pantothenate kinase 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000417609

InnateDB Gene

IDBG-49219 (PANK2)

Protein Structure

UniProt Annotation

Function

May be the master regulator of the CoA biosynthesis. {ECO:0000250}.

Subcellular Localization

Isoform 1: Mitochondrion.Isoform 2: Cytoplasm {ECO:0000305}.Isoform 3: Cytoplasm {ECO:0000305}.Isoform 4: Cytoplasm {ECO:0000305}.

Disease Associations

Neurodegeneration with brain iron accumulation 1 (NBIA1) [MIM:234200]: Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. {ECO:0000269PubMed:11479594, ECO:0000269PubMed:12510040, ECO:0000269PubMed:15834858}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) [MIM:607236]: Rare syndrome with many clinical similarities to PKAN. {ECO:0000269PubMed:12058097}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:11479594}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004594	pantothenate kinase activity
GO:0005524	ATP binding

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0008219	cell death
GO:0009108	coenzyme biosynthetic process
GO:0015937	coenzyme A biosynthetic process
GO:0015939	pantothenate metabolic process
GO:0016310	phosphorylation
GO:0044281	small molecule metabolic process