BAIT

PUS7

pseudouridine synthase PUS7, YOR243C
Pseudouridine synthase; catalyzes pseudouridylation at positions 35 and 56 in U2 snRNA, position 50 in 5S rRNA, position 13 in cytoplasmic tRNAs, and position 35 in pre-tRNA(Tyr); also pseudouridylates some mRNAs; relocates from nucleus to cytoplasm during heat shock and differentially modifies some mRNAs during heat shock; conserved in archaea, vertebrates, and some bacteria
GO Process (4)
GO Function (1)
GO Component (2)

Gene Ontology Biological Process

Gene Ontology Molecular Function

Gene Ontology Cellular Component

Saccharomyces cerevisiae (S288c)
PREY

TRM8

YDL201W
Noncatalytic subunit of a tRNA methyltransferase complex; Trm8p and Trm82p comprise an enzyme that catalyzes a methyl-transfer from S-adenosyl-l-methionine to the N(7) atom of guanine at position 46 in tRNA; Trm8 lacks catalytic activity if not bound to Trm82p
GO Process (1)
GO Function (1)
GO Component (2)

Gene Ontology Biological Process

Gene Ontology Molecular Function

Gene Ontology Cellular Component

Saccharomyces cerevisiae (S288c)

Synthetic Growth Defect

A genetic interaction is inferred when mutations in separate genes, each of which alone causes a minimal phenotype, result in a significant growth defect under a given condition when combined in the same cell.

Publication

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

Shaheen R, Tasak M, Maddirevula S, Abdel-Salam GMH, Sayed ISM, Alazami AM, Al-Sheddi T, Alobeid E, Phizicky EM, Alkuraya FS

Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional hydrogen bonds are thought to enhance RNA stability. Pseudouridine synthases are encoded in humans by 13 genes, two of which are linked to Mendelian diseases: PUS1 and PUS3. Very recently, PUS7 mutations were reported to ... [more]

Hum. Genet. Feb. 18, 2019; (); [Pubmed: 30778726]

Throughput

  • Low Throughput

Ontology Terms

  • phenotype: vegetative growth (APO:0000106)

Related interactions

InteractionExperimental Evidence CodeDatasetThroughputScoreCurated ByNotes
TRM8 PUS7
Negative Genetic
Negative Genetic

Mutations/deletions in separate genes, each of which alone causes a minimal phenotype, but when combined in the same cell results in a more severe fitness defect or lethality under a given condition. This term is reserved for high or low throughput studies with scores.

High-4.8601BioGRID
310099
TRM8 PUS7
Phenotypic Enhancement
Phenotypic Enhancement

A genetic interaction is inferred when mutation or overexpression of one gene results in enhancement of any phenotype (other than lethality/growth defect) associated with mutation or over expression of another gene.

Low-BioGRID
520721
TRM8 PUS7
Synthetic Growth Defect
Synthetic Growth Defect

A genetic interaction is inferred when mutations in separate genes, each of which alone causes a minimal phenotype, result in a significant growth defect under a given condition when combined in the same cell.

Low-BioGRID
520713
TRM8 PUS7
Synthetic Lethality
Synthetic Lethality

A genetic interaction is inferred when mutations or deletions in separate genes, each of which alone causes a minimal phenotype, result in lethality when combined in the same cell under a given condition.

Low-BioGRID
520707

Curated By

  • BioGRID