InnateDB Protein
|
IDBP-49225.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
PANK2
|
Protein Name
|
pantothenate kinase 2
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000313377
|
InnateDB Gene
|
IDBG-49219 (PANK2)
|
Protein Structure
|
|
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 |
|
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]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR004567
Type II pantothenate kinase
|
PFAM |
PF03630
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9BZ23
|
PhosphoSite |
PhosphoSite-Q9BZ23
|
TrEMBL |
V9GYH1
|
UniProt Splice Variant |
|
Entrez Gene |
80025
|
UniGene |
Hs.516859
|
RefSeq |
NP_705902
|
HUGO |
HGNC:15894
|
OMIM |
606157
|
CCDS |
CCDS13071
|
HPRD |
|
IMGT |
|
EMBL |
AF494409
AK021791
AK097796
AL031670
AL353194
AL713654
BC093633
BC101569
BC101571
BK000010
CH471133
EU595875
|
GenPept |
AAH93633
AAI01570
AAI01572
AAN32907
ACD11492
BAB13897
BAC05173
CAD28463
CAI11036
CAI11037
CAI22385
CAI22386
DAA00004
EAX10473
EAX10475
EAX10476
EAX10478
|
|
|