KEGG   Homo sapiens (human): 27010
Entry
27010             CDS       T01001                                 
Symbol
TPK1, HTPK1, PP20, THMD5
Name
(RefSeq) thiamin pyrophosphokinase 1
  KO
K00949  thiamine pyrophosphokinase [EC:2.7.6.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00730  Thiamine metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Disease
H01567  Thiamine pyrophosphokinase deficiency
H02832  Thiamine metabolism dysfunction syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00730 Thiamine metabolism
    27010 (TPK1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.6  Diphosphotransferases
    2.7.6.2  thiamine diphosphokinase
     27010 (TPK1)
SSDB
Motif
Pfam: TPK_catalytic TPK_B1_binding
Other DBs
NCBI-GeneID: 27010
NCBI-ProteinID: NP_001337808
OMIM: 606370
HGNC: 17358
Ensembl: ENSG00000196511
UniProt: Q9H3S4 A0A090N8Y0
Structure
LinkDB
Position
7:complement(144451941..144836437)
AA seq 243 aa
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGER
ESFLPEFINGDFDSIRPEVREYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVD
VIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEG
DWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS
NT seq 732 nt   +upstreamnt  +downstreamnt
atggagcatgcctttaccccgttggagcccctgctttccactgggaatttgaagtactgc
cttgtaattcttaatcagcctttggacaactattttcgtcatctttggaacaaagctctt
ttaagagcctgtgccgatggaggtgccaaccgcttatatgatatcaccgaaggagagaga
gaaagctttttgcctgaattcatcaatggagactttgattctattaggcctgaagtcaga
gaatactatgctactaagggatgtgagctcatttcaactcctgatcaagaccacactgac
tttactaagtgccttaaaatgctccaaaagaagatagaagaaaaagacttaaaggttgat
gtgatcgtgacactgggaggccttgctgggcgttttgaccagattatggcatctgtgaat
accttgttccaagcgactcacatcactccttttccaattataataatccaagaggaatcg
ctgatctacctgctccaaccaggaaagcacaggttgcatgtagacactggaatggagggt
gattggtgtggccttattcctgttggacagccttgtatgcaggttacaaccacaggcctc
aagtggaacctcacaaatgatgtgcttgcttttggaacattggtcagtacttccaatacc
tacgacgggtctggtgttgtgactgtggaaactgaccacccactcctctggaccatggcc
atcaaaagctaa

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