KEGG   Homo sapiens (human): 80025Help
Entry
80025             CDS       T01001                                 

Gene name
PANK2, C20orf48, HARP, HSS, NBIA1, PKAN
Definition
(RefSeq) pantothenate kinase 2
  KO
K09680  type II pantothenate kinase [EC:2.7.1.33]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00770  Pantothenate and CoA biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00120  Coenzyme A biosynthesis, pantothenate => CoA
Disease
H00832  Core neuroacanthocytosis syndromes
H00833  Neurodegeneration with brain iron accumulation
H02208  Pantothenate kinase-associated neurodegeneration
H02209  HARP syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00770 Pantothenate and CoA biosynthesis
    80025 (PANK2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.1  Phosphotransferases with an alcohol group as acceptor
    2.7.1.33  pantothenate kinase
     80025 (PANK2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Fumble
Motif
Other DBs
NCBI-GeneID: 80025
NCBI-ProteinID: NP_705902
OMIM: 606157
HGNC: 15894
Ensembl: ENSG00000125779
Vega: OTTHUMG00000031768
Pharos: Q9BZ23(Tbio)
UniProt: Q9BZ23
Structure
PDB: 

Position
20p13
AA seq 570 aa AA seqDB search
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRV
REPTGREAFGPSPASSDWLPARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRL
LLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAE
GTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGR
DKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQC
YYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFG
LCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEK
REAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDY
WSKGQLKALFSEHEGYFGAVGALLELLKIP
NT seq 1713 nt NT seq  +upstreamnt  +downstreamnt
atgaggaggctcgggcccttccacccacgcgtccattgggcggcgccgccatcactctct
tctgggctacaccgccttctcttcctccgcggaacccggatcccctcctccaccaccctc
tccccgccccgtcacgatagcctctcattggacggaggcacggtcaatcctcctcgagtt
agggagccgactggacgcgaggcctttgggccgtccccagcctcgtcggattggcttcct
gcgcgttggcgcaacggaagaggcggccggccgagggcgcgcctctgctctggctggact
gccgcggaggaggcgagaaggaatccgacgctggggggcttgctcgggcggcagcgactg
ctgctgcggatgggagggggccggctcggcgcgcccatggagcgccacggcagggcttcc
gccacctccgtctcgtcggctggggagcaggcggccggggaccccgaagggcggcggcag
gagccactgcggcgccgggcgagcagcgcgtcggtgcccgcggtcggggcctcggctgag
ggcacgaggcgggatcgactgggctcttacagcggccccacctcggtctcccgccagcgc
gtcgaaagcctgaggaaaaagcggccgctttttccatggtttggactggatatcggtgga
actctggtcaagctggtatattttgaacccaaagacatcactgctgaagaagaagaggaa
gaagtggaaagtcttaaaagcattcggaagtacctgacctccaatgtggcttatgggtct
acaggcattcgggacgtgcacctcgagctgaaggacctgactctgtgtggacgcaaaggc
aatctgcactttatacgctttcccactcatgacatgcctgcttttattcaaatgggcaga
gataaaaacttctcgagtctccacactgtcttttgtgccactggaggtggagcgtacaaa
tttgagcaggattttctcacaataggtgatcttcagctttgcaaactggatgaactagat
tgcttgatcaaaggaattttatacattgactcagtcggattcaatggacggtcacagtgc
tattactttgaaaaccctgctgattctgaaaagtgtcagaagttaccatttgatttgaaa
aatccgtatcctctgcttctggtgaacattggctcaggggttagcatcttagcagtatat
tccaaagataattacaaacgggtcacaggtactagtcttggaggaggaactttttttggt
ctctgctgtcttcttactggctgtaccacttttgaagaagctcttgaaatggcatctcgt
ggagatagcaccaaagtggataaactagtacgagatatttatggaggggactatgagagg
tttggactgccaggctgggctgtggcttcaagctttggaaacatgatgagcaaggagaag
cgagaggctgtcagtaaagaggacctggccagagcgactttgatcaccatcaccaacaac
attggctcaatagcaagaatgtgtgcccttaatgaaaacattaaccaggtggtatttgtt
ggaaatttcttgagaattaatacgatcgccatgcggcttttggcatatgctttggattat
tggtccaaggggcagttgaaagcacttttttcggaacacgagggttattttggagctgtt
ggagcactccttgagctgttgaagatcccgtga

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