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MGP002207

UniProt Annotations

Entry Information
Gene Namepterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Protein EntryPHS_HUMAN
UniProt IDP61457
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity(6R)-6-(L-erythro-1,2-dihydroxypropyl)- 5,6,7,8-tetrahydro-4a-hydroxypterin = (6R)-6-(L-erythro-1,2- dihydroxypropyl)-7,8-dihydro-6H-pterin + H(2)O.
DiseaseHyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. {ECO:0000269|PubMed:8352282, ECO:0000269|PubMed:9760199}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.
InteractionSelf; NbExp=3; IntAct=EBI-740475, EBI-740475; Q9UKV3:ACIN1; NbExp=2; IntAct=EBI-740475, EBI-396258; P05067:APP; NbExp=2; IntAct=EBI-740475, EBI-77613;
SimilarityBelongs to the pterin-4-alpha-carbinolamine dehydratase family. {ECO:0000305}.
Subcellular LocationCytoplasm. Nucleus. Note=Cytoplasmic and/or nuclear.
SubunitHomotetramer and homodimer. Heterotetramer with HNF1A; formed by a dimer of dimers (By similarity). {ECO:0000250}.
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