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: 60.93 – 60.93 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. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).[6]

Clinical significance

Mutations of the PCBD1 gene cause pterin-4 alpha-carbinolamine dehydratase deficiency, one of the forms of tetrahydrobiopterin deficiency.[7]

Interactions

PCBD1 has been shown to interact with DYRK1B[8] and HNF1A.[9][10]

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 (April 1993). "Genes for the dimerization cofactor of hepatocyte nuclear factor-1 alpha (DCOH) are on human and murine chromosomes 10". Genomics. 16 (1): 292–295. 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. ^ Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, et al. (May 2020). "Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883. PMID 32456656.
  8. ^ Lim S, Jin K, Friedman E (July 2002). "Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha". The Journal of Biological Chemistry. 277 (28): 25040–25046. doi:10.1074/jbc.M203257200. PMID 11980910.
  9. ^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (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.
  10. ^ Sourdive DJ, Transy C, Garbay S, Yaniv M (April 1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Research. 25 (8): 1476–1484. doi:10.1093/nar/25.8.1476. PMC 146627. PMID 9092652.

Further reading

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