PTS
entrez
5805
canonical
uniprot
Q03393
canonical
ensembl
ENSG00000150787
resolver
ensp
ENSP00000280362
resolver
enst
ENST00000280362
resolver
genesymbol
PTS
resolver
hgnc
HGNC:9689
resolver
uniprot
B0YJ87
resolver
uniprot
Q8WVG8
resolver
uniprot_entry
PTPS_HUMAN
resolver
uniprot_sec
B0YJ87
resolver
uniprot_sec
Q8WVG8
resolver
amino_acid_sequence
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE
uniprot
proteins
disease_involvement
DISEASE: Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. {ECO:0000269|PubMed:10220141, ECO:0000269|PubMed:10531334, ECO:0000269|PubMed:10585341, ECO:0000269|PubMed:10874306, ECO:0000269|PubMed:11388593, ECO:0000269|PubMed:7493990, ECO:0000269|PubMed:7698774, ECO:0000269|PubMed:8178819, ECO:0000269|PubMed:8707300, ECO:0000269|PubMed:9159737, ECO:0000269|PubMed:9222757, ECO:0000269|PubMed:9450907}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.3.12
uniprot
proteins
function
FUNCTION: Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin. {ECO:0000269|PubMed:1282802}.
uniprot
proteins
mass_dalton
16386
uniprot
proteins
mutagenesis
MUTAGEN 19; /note="S->A: Decrease in activity; abolishes phosphorylation by PKG."; /evidence="ECO:0000269|PubMed:10531334
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Ser-19 is required for maximal enzyme activity. {ECO:0000269|PubMed:10531334}.
uniprot
proteins
protein_family
PTPS family
uniprot
proteins
pubmed
10220141
uniprot
proteins
pubmed
10531334
uniprot
proteins
pubmed
10585341
uniprot
proteins
pubmed
10874306
uniprot
proteins
pubmed
11388593
uniprot
proteins
pubmed
1282802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7493990
uniprot
proteins
pubmed
7698774
uniprot
proteins
pubmed
8178819
uniprot
proteins
pubmed
8216273
uniprot
proteins
pubmed
8707300
uniprot
proteins
pubmed
8841415
uniprot
proteins
pubmed
9159737
uniprot
proteins
pubmed
9222755
uniprot
proteins
pubmed
9222757
uniprot
proteins
pubmed
9450907
uniprot
proteins
sequence_length
145
uniprot
proteins