• Gene id: 5092

Gene Summary

• Gene Symbol: PCBD1   Gene   UCSC   Ensembl
• Aliases: DCOH, PCBD, PCD, PHS
• Gene name: pterin-4 alpha-carbinolamine dehydratase 1
• Alternate names: pterin-4-alpha-carbinolamine dehydratase, 4-alpha-hydroxy-tetrahydropterin dehydratase, 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1), dimerizing cofactor for HNF1, phenylalanine hydroxylase-stimulating,
• Gene location: 10q22.1 (70888564: 70882279)     Exons: 6     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both
• OMIM: 606684

Protein Summary

• Protein general information: P61457  
  • Name: Pterin 4 alpha carbinolamine dehydratase (PHS) (EC 4.2.1.96) (4 alpha hydroxy tetrahydropterin dehydratase) (Dimerization cofactor of hepatocyte nuclear factor 1 alpha) (DCoH) (Dimerization cofactor of HNF1) (Phenylalanine hydroxylase stimulating protein)
  • Length: 104  
  • Mass: 12000
• Sequence:

  MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHI
  TLSTHECAGLSERDINLASFIEQVAVSMT

• Structural information:
  • Interpro: IPR036428  IPR001533  
  • STRING: ENSP00000299299
• Other Databases: GeneCards:  PCBD1  Malacards:  PCBD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008124	4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IBA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0008124	4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0008124	4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006558	L-phenylalanine metabolic process	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0004505	phenylalanine 4-monooxygenase activity	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008124	4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IEA	molecular function
GO:0043393	regulation of protein binding	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Phenylketonuria	KEGG:H00167
Phenylketonuria	KEGG:H00167
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R