KEGG   Homo sapiens (human): 5092
Entry
5092              CDS       T01001                                 

Gene name
PCBD1, DCOH, PCBD, PCD, PHS
Definition
(RefSeq) pterin-4 alpha-carbinolamine dehydratase 1
  KO
K01724  4a-hydroxytetrahydrobiopterin dehydratase [EC:4.2.1.96]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00705  Tetrahydrobiopterin biosynthesis, BH4OH to BH4
N00706  QDPR deficiency in tetrahydrobiopterin biosynthesis
N00707  PCBD1 deficiency in tetrahydrobiopterin biosynthesis
Disease
H00167  Phenylketonuria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    5092 (PCBD1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    5092 (PCBD1)
Enzymes [BR:hsa01000]
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.96  4a-hydroxytetrahydrobiopterin dehydratase
     5092 (PCBD1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   5092 (PCBD1)
SSDB
Motif
Pfam: Pterin_4a
Other DBs
NCBI-GeneID: 5092
NCBI-ProteinID: NP_000272
OMIM: 126090
HGNC: 8646
Ensembl: ENSG00000166228
Vega: OTTHUMG00000018417
Pharos: P61457(Tbio)
UniProt: P61457
LinkDB
Position
10q22.1
AA seq 104 aa
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKL
DHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
NT seq 315 nt   +upstreamnt  +downstreamnt
atggctggcaaagcacacaggctgagcgctgaggagagggaccagctgctgccaaacctg
agggctgtggggtggaatgagctggaaggccgtgatgccatcttcaagcagtttcatttc
aaagacttcaacagggcctttgggttcatgacaagagtggccctgcaggctgagaaactg
gaccaccatcctgaatggtttaacgtgtacaacaaggtccacatcacgctgagcacccat
gagtgtgccggcctttcagaacgggacataaacctggccagcttcatcgaacaagtagca
gtgtccatgacatag

KEGG   Homo sapiens (human): 84105
Entry
84105             CDS       T01001                                 

Gene name
PCBD2, DCOH2, DCOHM, PHS2
Definition
(RefSeq) pterin-4 alpha-carbinolamine dehydratase 2
  KO
K01724  4a-hydroxytetrahydrobiopterin dehydratase [EC:4.2.1.96]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00790  Folate biosynthesis
hsa01100  Metabolic pathways
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00705  Tetrahydrobiopterin biosynthesis, BH4OH to BH4
N00706  QDPR deficiency in tetrahydrobiopterin biosynthesis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00790 Folate biosynthesis
    84105 (PCBD2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    84105 (PCBD2)
Enzymes [BR:hsa01000]
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.96  4a-hydroxytetrahydrobiopterin dehydratase
     84105 (PCBD2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   84105 (PCBD2)
SSDB
Motif
Pfam: Pterin_4a IF-2
Other DBs
NCBI-GeneID: 84105
NCBI-ProteinID: NP_115527
OMIM: 609836
HGNC: 24474
Ensembl: ENSG00000132570
Vega: OTTHUMG00000163070
Pharos: Q9H0N5(Tdark)
UniProt: Q9H0N5
LinkDB
Structure
PDB: 
4C45

Position
5q31.1
AA seq 130 aa
MAAVLGALGATRRLLAALRGQSLGLAAMSSGTHRLTAEERNQAILDLKAAGWSELSERDA
IYKEFSFHNFNQAFGFMSRVALQAEKMNHHPEWFNVYNKVQITLTSHDCGELTKKDVKLA
KFIEKAAASV
NT seq 393 nt   +upstreamnt  +downstreamnt
atggcggcggtgctcggggcgctcggggcgacgcggcgcttgttggcggcgctgcgaggc
cagagcctagggctagcggccatgtcatcaggtactcacaggttgactgcagaggagagg
aaccaagctatacttgaccttaaagcagcaggatggtcggaattaagtgagagagatgcc
atctacaaagaattctccttccacaattttaatcaggcatttggctttatgtcccgagtt
gccctacaagcagagaagatgaatcatcacccagaatggttcaatgtatacaacaaggtc
cagataactctcacctcacatgactgtggtgaactgaccaaaaaagatgtgaagctggcc
aagtttattgaaaaagcagctgcttctgtgtga

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