PUS1

Also known as MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.

In the Vinony graph

Vinony's link graph records 9 inbound references to PUS1, and connects out to PubMed, human chromosome 12 and Ensembl genome database project.

It sits within the topics EC 5.4.99 and Genes on human chromosome 12.

Vinony links it to 5 Wikipedia language editions.

Gene data

PUS1

Name: pseudouridine synthase 1
Type: protein-coding
Position: 131,929,200–131,945,896 (+)
Aliases: MLASA1
Ensembl: ENSG00000177192
RefSeq RNA: NM_001002019.3, NM_001002020.3, NM_025215.6, NR_201560.1
RefSeq protein: NP_001002019.1, NP_001002020.1, NP_079491.2

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].

Pathways

tRNA modification in the nucleus and cytosol tRNA modification in the mitochondrion tRNA processing tRNA processing Metabolism of RNA Metabolism of RNA

via MyGene.info

Gene · Ensembl

pseudouridine synthase 1

Symbol: PUS1
Biotype: Protein coding
Organism: Homo sapiens
Location: 12:131,929,200-131,945,896
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 5931
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/80324
genomic end: 132428406
genomic start: 132413745
chromosome: human chromosome 12
cytogenetic location: 12q24.33

Sources (4)

via Wikidata · CC0

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Encyclopedic overview

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Contents

See also
References
Further reading

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.

PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs.[supplied by OMIM]. The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.

Excerpted from Wikipedia’s “PUS1” article, available under the CC BY-SA 4.0 licence.