PCBD1

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Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Protein PCBD1 PDB 1dch.png
PDB rendering based on 1dch.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PCBD1 ; DCOH; PCBD; PCD; PHS
External IDs OMIM126090 MGI94873 HomoloGene57028 GeneCards: PCBD1 Gene
EC number 4.2.1.96
RNA expression pattern
PBB GE PCBD1 203557 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5092 13180
Ensembl ENSG00000166228 ENSMUSG00000020098
UniProt P61457 P61458
RefSeq (mRNA) NM_000281 NM_025273
RefSeq (protein) NP_000272 NP_079549
Location (UCSC) Chr 10:
70.88 – 70.89 Mb
Chr 10:
61.09 – 61.09 Mb
PubMed search [1] [2]

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]