PCBD1

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PCBD1
Protein PCBD1 PDB 1dch.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
External IDs MGI: 94873 HomoloGene: 57028 GeneCards: 5092
RNA expression pattern
PBB GE PCBD1 203557 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000281
NM_001289797
NM_001323004

NM_025273

RefSeq (protein)

NP_000272.1
NP_001276726.1

NP_079549.1

Location (UCSC) Chr 10: 70.88 – 70.89 Mb Chr 10: 61.09 – 61.09 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.[1][2]

Function[edit]

This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).[2]

Interactions[edit]

PCBD1 has been shown to interact with DYRK1B[3] and HNF1A.[4][5]

References[edit]

  1. ^ Milatovich A, Mendel DB, Crabtree GR, Francke U (Apr 1993). "Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10". Genomics 16 (1): 292–5. doi:10.1006/geno.1993.1182. PMID 8486378. 
  2. ^ a b "Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)". 
  3. ^ Lim S, Jin K, Friedman E (Jul 2002). "Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha". The Journal of Biological Chemistry 277 (28): 25040–6. doi:10.1074/jbc.M203257200. PMID 11980910. 
  4. ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. 
  5. ^ Sourdive DJ, Transy C, Garbay S, Yaniv M (Apr 1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Research 25 (8): 1476–84. doi:10.1093/nar/25.8.1476. PMC 146627. PMID 9092652. 

Further reading[edit]