PCBD1

PCBD1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1DCH, 1F93, 1DCO, 1DCP
Dynodwyr
Cyfenwau	PCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
Dynodwyr allanol	OMIM: 126090 HomoloGene: 57028 GeneCards: PCBD1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001105 transcription coactivator activity • phenylalanine 4-monooxygenase activity • GO:0001948, GO:0016582 protein binding • lyase activity • identical protein binding • 4-alpha-hydroxytetrahydrobiopterin dehydratase activity Cydrannau o'r gell • nucleoplasm • extracellular exosome • cnewyllyn cell • cytoplasm • cytosol Prosesau biolegol • 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 Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5092	n/a
Ensembl	ENSG00000166228	n/a
UniProt	P61457	n/a
RefSeq (mRNA)	NM_000281 NM_001289797 NM_001323004 NM_001001939	n/a
RefSeq (protein)	NP_000272 NP_001276726 NP_001309933	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PCBD1 yw PCBD1 a elwir hefyd yn Pterin-4 alpha-carbinolamine dehydratase 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 10, band 10q22.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PCBD1.

• PCD
• PHS
• DCOH
• PCBD

Llyfryddiaeth

• "Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). ". Am J Hum Genet. 1998. PMID 9585615.
• "Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1. ". Proc Natl Acad Sci U S A. 1997. PMID 9391049.
• "Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?". Mol Genet Metab. 2006. PMID 16423549.
• "Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. ". DNA Cell Biol. 1999. PMID 10098606.
• "Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.". Hum Genet. 1998. PMID 9760199.