Pterin-4-alfa-karbinolamin dehidrataza je enzim koji je kod ljudi kodiran genom PCBD1.[5][6]

PCBD1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

1DCH, 1F93, 1DCO, 1DCP

Identifikatori
AliasiPCBD1
Vanjski ID-jeviOMIM: 126090 MGI: 94873 HomoloGene: 57028 GeneCards: PCBD1
Lokacija gena (čovjek)
Hromosom 10 (čovjek)
Hrom.Hromosom 10 (čovjek)[1]
Hromosom 10 (čovjek)
Genomska lokacija za PCBD1
Genomska lokacija za PCBD1
Bend10q22.1Početak70,882,280 bp[1]
Kraj70,888,565 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za PCBD1
Genomska lokacija za PCBD1
Bend10 B4|10 32.14 cMPočetak60,925,110 bp[2]
Kraj60,930,103 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija GO:0001105 transcription coactivator activity
phenylalanine 4-monooxygenase activity
GO:0001948, GO:0016582 vezivanje za proteine
lyase activity
vezivanje identičnih proteina
4-alpha-hydroxytetrahydrobiopterin dehydratase activity
Ćelijska komponenta nukleoplazma
Egzosom
jedro
citoplazma
citosol
Biološki proces GO:0009373 regulation of transcription, DNA-templated
protein heterooligomerization
L-phenylalanine catabolic process
transcription, DNA-templated
GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated
tetrahydrobiopterin biosynthetic process
protein homotetramerization
regulation of protein homodimerization activity
L-phenylalanine metabolic process
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_000281
NM_001289797
NM_001323004
NM_001001939

NM_025273

RefSeq (bjelančevina)

NP_000272
NP_001276726
NP_001309933

NP_079549

Lokacija (UCSC)Chr 10: 70.88 – 70.89 MbChr 10: 60.93 – 60.93 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 104 aminokiseline, а molekulska težina 12.000 Da.[7]

1020304050
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFM
TRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVA
VSMT

Funkcija

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Ovaj gen kodira pterin-4 alfa-karbinolamin dehidratazu, enzim uključen u hidroksilaciju fenilalanina. Nedostatak ovog enzima dovodi do hiperfenilalaninemije. Enzim regulira homodimerizaciju jedarnog faktora 1 hepatocitnog transkripcijskog faktora (HNF1).[6]

Interakcije

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Dokazano je da PCBD1 ima interakcije sa DYRK1B [8] i HNF1A.[9][10]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166228 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020098 - Ensembl, maj 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. ^ "UniProt, P61457". Pristupljeno 3. 9. 2021.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.

Dopunska literatura

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Vanjski linkovi

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