Protein: P61457 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
P61457 (Uniprot)	PHS_HUMAN	PCBD1	Pterin-4-alpha-carbinolamine dehydratase	human	Yes

Protein Function

Uniprot: Involved 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.

Dissimilar Functions Manual Curation

Function 1: Carbinolamine dehydratase. Regulation of phenylalanine hydroxylation.

Function 2: Dimerization cofactor. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

Publications (PMID): 1465414

MoonDB Network Modules

Biological Processes

Showing 1 to 10 of 46 entries

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Module ID (MoonGO)	GO ID (BP)	GO Name
57	GO:0006139	nucleobase-containing compound metabolic process
103	GO:0006139	nucleobase-containing compound metabolic process
132	GO:0090304	nucleic acid metabolic process
132	GO:0060255	regulation of macromolecule metabolic process
159	GO:0006464	cellular protein modification process
159	GO:0006355	regulation of transcription, DNA-templated
159	GO:0007165	signal transduction
211	GO:0034645	cellular macromolecule biosynthetic process
211	GO:0044271	cellular nitrogen compound biosynthetic process
211	GO:0090304	nucleic acid metabolic process

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Cellular Components

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Module ID (MoonGO)	GO ID (CC)	GO Name
57	GO:0005634	nucleus
103	GO:0070013	intracellular organelle lumen
103	GO:0005634	nucleus
132	GO:0005634	nucleus
159	GO:0005829	cytosol
159	GO:0005654	nucleoplasm
208	GO:0005634	nucleus
211	GO:0005829	cytosol
211	GO:0031981	nuclear lumen
261	GO:0031981	nuclear lumen

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Protein GO Annotations

Biological Processes

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GO ID (BP)	GO Name	Evidence Code (GO EC)
GO:0006351	transcription, DNA-templated	IEA
GO:0006559	L-phenylalanine catabolic process	TAS
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA
GO:0043496	regulation of protein homodimerization activity	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IEA
GO:0051289	protein homotetramerization	IEA
GO:0051291	protein heterooligomerization	IEA
GO:0055114	oxidation-reduction process	IEA

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Cellular Components

Showing 1 to 4 of 4 entries

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GO ID (CC)	GO Name	Evidence Code (GO EC)
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	TAS
GO:0070062	extracellular exosome	IDA

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Dissimilar Cellular Components (PrOnto)

Showing 1 to 2 of 2 entries

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GO ID 1	Component 1	GO ID 2	Component 2	Association Probability (PrOnto)	Interaction Probability (PrOnto)
GO:0005634	nucleus	GO:0070062	extracellular exosome	6.30e-13	4.54e-26
GO:0005654	nucleoplasm	GO:0070062	extracellular exosome	3.37e-20	1.23e-35

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All Protein Interactions

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Interactor	Also a MoonDB EMF protein
A4_HUMAN	No
ACINU_HUMAN	No
AP2C_HUMAN	No
AT1A3_HUMAN	No
BAKOR_HUMAN	No
BRD7_HUMAN	No
CAC1C_HUMAN	No
CACO1_HUMAN	No
CEBPZ_HUMAN	No
CHM2A_HUMAN	No

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Publications Associated

Showing 1 to 9 of 9 entries

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PMID	Article Title
1763325	Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein.
7763270	Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.
8352282	Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
8444860	Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.
9760199	Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
10098606	Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1.
15489334	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
21269460	Initial characterization of the human central proteome.
24275569	An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

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OMIM Diseases Associated

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OMIM ID	Disease Name
264070	Hyperphenylalaninemia, BH4-deficient, D

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Protein Domains Associated

Showing 1 to 6 of 6 entries

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Domain Name	Domain ID	Source
A47010	A47010	PIR
PCD_sf	IPR036428	InterPro
Pterin_4_alpha	MF_00434	HAMAP
Pterin_4a	PF01329	Pfam
Pterin_deHydtase	IPR001533	InterPro
SSF55248	SSF55248	SUPFAM

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