Symbol: Name: ID: |
PUS1 pseudouridylate synthase 1 GFS:4714 |
Gene name: | PUS1 |
Chromosome: | 12q24 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1929237 | Rat Genome Database ID: | RGD:1311871 |
HGNC ID: | HGNC:15508 | RefSeq IDs: | NM_001002019 |
Entrez Gene ID: | 80324 | Ensembl Gene ID: | ENSG00000177192 |
VEGA IDs: | OTTHUMG00000128507 | UniProt ID: | Q9Y606 |
UCSC ID: | uc001ujf.2 | OMIM ID: | 608109 |
Pubmed: | PMID10094309 | ||
CCDS IDs: | CCDSCCDS9275.2 CCDS CCDS31928.1 |
tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.
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].
Function: Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).
Products for PUS1 gene
Catalog | Product Name | Application | Company |
GFS:E04714 | pseudouridylate synthase 1; ELISA kit | ELISA | n/a |
GFS:A04714 | pseudouridylate synthase 1; Anti | ANTIBODIES | n/a |
GFS:P04714 | pseudouridylate synthase 1; Protien | Protien | n/a |