pcbd1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: pcbd1provided by ZNC
Official Full Name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alphaprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1787
See related: Ensembl:ENSDARG00000031981 AllianceGenome:ZFIN:ZDB-GENE-040426-1787
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: pcbd; zgc:73389
Summary: Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Predicted to act upstream of or within tetrahydrobiopterin biosynthetic process. Predicted to be located in cytoplasm and nucleus. Is expressed in lens; liver; and solid lens vesicle. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia D. Orthologous to human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (25721095..25726528)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (25590645..25596078)

Chromosome 13 - NC_007124.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IEA Inferred from Electronic Annotation more info
enables lyase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pterin-4-alpha-carbinolamine dehydratase

Names: 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)

NP_957108.1

EC 4.2.1.96

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_200814.1 → NP_957108.1 pterin-4-alpha-carbinolamine dehydratase

See identical proteins and their annotated locations for NP_957108.1

Status: PROVISIONAL

Source sequence(s)

BC059694

UniProtKB/TrEMBL

A0A8M1PF27, Q6PBI6

Related

ENSDARP00000046049.6, ENSDART00000046050.7

Conserved Domains (1) summary

cd00914
Location:24 → 99

PCD_DCoH_subfamily_b; PCD_DCoH: The bifunctional protein pterin-4alpha-carbinolamine dehydratase (PCD), also known as DCoH (dimerization cofactor of hepatocyte nuclear factor-1), is both a transcription activator and a metabolic enzyme. DCoH stimulates gene expression by ...