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PCBD1

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PCBD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
External IDsOMIM: 126090 MGI: 94873 HomoloGene: 57028 GeneCards: PCBD1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000281
NM_001289797
NM_001323004
NM_001001939

NM_025273

RefSeq (protein)

NP_000272
NP_001276726
NP_001309933

NP_079549

Location (UCSC)Chr 10: 70.88 – 70.89 MbChr 10: 61.09 – 61.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.[5][6]

Function

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).[6]

Interactions

PCBD1 has been shown to interact with DYRK1B[7] and HNF1A.[8][9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166228 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020098 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)".
  7. ^ 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.
  8. ^ 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.
  9. ^ 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

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PCBD1
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