PANK2
entrez
80025
canonical
uniprot
Q9BZ23
canonical
ensembl
ENSG00000125779
resolver
ensp
ENSP00000313377
resolver
ensp
ENSP00000417609
resolver
ensp
ENSP00000476745
resolver
ensp
ENSP00000477429
resolver
ensp
ENSP00000481523
resolver
genesymbol
PANK2
resolver
genesymbol_syn
C20orf48
resolver
hgnc
HGNC:15894
resolver
uniprot
B1AK33
resolver
uniprot
B2Z3X0
resolver
uniprot
D3DVZ0
resolver
uniprot
Q5T7I2
resolver
uniprot
Q5T7I4
resolver
uniprot
Q6P1K9
resolver
uniprot
Q7RTX5
resolver
uniprot
Q8N7Q4
resolver
uniprot
Q8TCR5
resolver
uniprot
Q9BYW5
resolver
uniprot
Q9HAF2
resolver
uniprot_entry
PANK2_HUMAN
resolver
uniprot_entry
Q6P1K9_HUMAN
resolver
uniprot_sec
B1AK33
resolver
uniprot_sec
B2Z3X0
resolver
uniprot_sec
D3DVZ0
resolver
uniprot_sec
Q5T7I2
resolver
uniprot_sec
Q5T7I4
resolver
uniprot_sec
Q7RTX5
resolver
uniprot_sec
Q8N7Q4
resolver
uniprot_sec
Q8TCR5
resolver
uniprot_sec
Q9BYW5
resolver
uniprot_sec
Q9HAF2
resolver
activity_regulation
ACTIVITY REGULATION: [Isoform 1]: Strongly inhibited by acetyl-CoA and its thioesters (PubMed:15659606, PubMed:16272150, PubMed:17242360, PubMed:17825826). Activated by palmitoylcarnitine (PubMed:17242360, PubMed:17825826). {ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:16272150, ECO:0000269|PubMed:17242360, ECO:0000269|PubMed:17825826}.
uniprot
proteins
amino_acid_sequence
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPASSDWLPARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11479594, ECO:0000269|PubMed:12058097, ECO:0000269|PubMed:12510040, ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:15834858, ECO:0000269|PubMed:16272150, ECO:0000269|PubMed:22930366, ECO:0000269|PubMed:24075960, ECO:0000269|PubMed:24655737, ECO:0000269|PubMed:27185474}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.33
uniprot
proteins
function
FUNCTION: [Isoform 1]: Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:16272150, PubMed:17242360, PubMed:17825826). Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC) (PubMed:30221726). {ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:16272150, ECO:0000269|PubMed:17242360, ECO:0000269|PubMed:17825826, ECO:0000269|PubMed:30221726}.; FUNCTION: [Isoform 4]: Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. {ECO:0000269|PubMed:16272150}.
uniprot
proteins
mass_dalton
62681
uniprot
proteins
mutagenesis
MUTAGEN 82..94; /note="RWRNGRGGRPRAR->AWANGAGGAPAAA: Loss of nuclear localization."; /evidence="ECO:0000269|PubMed:23152917"; MUTAGEN 268..275; /note="LELKDLTL->AEAKDATA: Loss of export from nucleus."; /evidence="ECO:0000269|PubMed:23152917
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5. {ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:16272150, ECO:0000269|PubMed:17242360, ECO:0000269|PubMed:17825826}.
uniprot
proteins
post_translational_modification
PTM: Synthesized as a 62-kDa precursor which is proteolytically processed by the mitochondrial-processing peptidase (MPP) via a 59-kDa intermediate to yield the mature mitochondrial 48-kDa subunit. {ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:16272150}.
uniprot
proteins
protein_family
Type II pantothenate kinase family
uniprot
proteins
pubmed
11479594
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12058097
uniprot
proteins
pubmed
12510040
uniprot
proteins
pubmed
12554685
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15659606
uniprot
proteins
pubmed
15834858
uniprot
proteins
pubmed
16272150
uniprot
proteins
pubmed
17242360
uniprot
proteins
pubmed
17825826
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22930366
uniprot
proteins
pubmed
23152917
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24075960
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24655737
uniprot
proteins
pubmed
27185474
uniprot
proteins
pubmed
30221726
uniprot
proteins
sequence_length
570
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:12554685, ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:17825826}. Mitochondrion intermembrane space {ECO:0000269|PubMed:23152917}. Nucleus {ECO:0000269|PubMed:23152917}. Note=Localizes predominantly to the mitochondria and to a lesser extent to the nucleus. Found in both the mitochondria and the nucleus throughout the cell cycle, with the exception of the G2/M phase when it is restricted to mitochdondria. {ECO:0000269|PubMed:23152917}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:12554685, ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm {ECO:0000305}.
uniprot
proteins