CBF5 pseudouridine synthase CBF5 [Saccharomyces cerevisiae S288C] - Gene

Summary

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Official Symbol: CBF5
Official Full Name: pseudouridine synthase CBF5
Primary source: SGD:S000004165
Locus tag: YLR175W
See related: AllianceGenome:SGD:S000004165; FungiDB:YLR175W; VEuPathDB:YLR175W
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Saccharomyces cerevisiae S288C (strain: S288C)
Lineage: Eukaryota; Fungi; Dikarya; Ascomycota; Saccharomycotina; Saccharomycetes; Saccharomycetales; Saccharomycetaceae; Saccharomyces
Summary: Enables mRNA binding activity. Contributes to pseudouridine synthase activity. Involved in box H/ACA sno(s)RNA 3'-end processing and pseudouridine synthesis. Part of box H/ACA snoRNP complex. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita. Orthologous to human DKC1 (dyskerin pseudouridine synthase 1). [provided by Alliance of Genome Resources, Oct 2024]
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Genomic context

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See CBF5 in Genome Data Viewer

Location:: chromosome: XII

Exon count:: 1

Sequence:: Chromosome: XII; NC_001144.5 (506134..507585)

Chromosome XII - NC_001144.5 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_001144.5

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

rRNA pseudouridylation defects resulted from a deficient pseudouridylate synthetase affect ribosomal ligand binding and translational fidelity from yeast to human cells.
Title: rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.
The authors demonstrate that Shq1p binds the pseudourydilating enzyme Cbf5p through the C-terminal domain, in synergy with the N-terminal domain.
Title: The box H/ACA snoRNP assembly factor Shq1p is a chaperone protein homologous to Hsp90 cochaperones that binds to the Cbf5p enzyme.
box H/ACA RNP assembly factor Naf1p contains a domain homologous to Gar1p mediating its interaction with Cbf5p
Title: The box H/ACA RNP assembly factor Naf1p contains a domain homologous to Gar1p mediating its interaction with Cbf5p.
two molecules of Cbf5p interact with a binding platform constituted by the 5' end of the RNA, the single-stranded hinge domain containing the conserved H box, and the 3' end of the molecule, including the conserved ACA box
Title: Analysis of the binding of the N-terminal conserved domain of yeast Cbf5p to a box H/ACA snoRNA.

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Orthologs from OrthoDB

Gene Ontology Provided by SGD

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables mRNA binding	HDA more info	PubMed
enables pseudouridine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to pseudouridine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables pseudouridine synthase activity	IEA Inferred from Electronic Annotation more info
enables pseudouridine synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pseudouridine synthase activity	ISA Inferred from Sequence Alignment more info	PubMed
enables snRNA pseudouridine synthase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA processing	IEA Inferred from Electronic Annotation more info
involved_in box H/ACA sno(s)RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in box H/ACA sno(s)RNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in mRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pseudouridine synthesis	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosome biogenesis	IEA Inferred from Electronic Annotation more info
involved_in snRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA pseudouridine synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in snRNA pseudouridine synthesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of 90S preribosome	HDA more info	PubMed
part_of box H/ACA snoRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of box H/ACA snoRNP complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pseudouridine synthase CBF5

NP_013276.1

Pseudouridine synthase catalytic subunit of box H/ACA snoRNPs; acts on large and small rRNAs, on snRNA U2, and on some mRNAs; mutations in human ortholog dyskerin cause the disorder dyskeratosis congenita; small nucleolar ribonucleoprotein particles are also known as snoRNPs

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NC_001144.5 Reference assembly

Range

506134..507585

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001182062.1 → NP_013276.1 TPA: pseudouridine synthase CBF5 [Saccharomyces cerevisiae S288C]

See identical proteins and their annotated locations for NP_013276.1

Status: REVIEWED

UniProtKB/Swiss-Prot

D6VYH9, P33322

UniProtKB/TrEMBL

B3RH68

Conserved Domains (1) summary

TIGR00425
Location:26 → 351

CBF5; rRNA pseudouridine synthase, putative