Basic Information

Symbol
PUS1
RNA class
mRNA
Alias
Pseudouridine Synthase 1 TRNA Pseudouridine(38-40) Synthase MLASA1 Pseudouridylate Synthase 1 Homolog TRNA Pseudouridylate Synthase I TRNA Pseudouridine Synthase 1 Pseudouridylate Synthase 1 Mitochondrial Myopathy And Sideroblastic Anemia 1 TRNA Pseudouridine Synthase A, Mitochondrial Mitochondrial TRNA Pseudouridine Synthase A TRNA Uridine Isomerase I TRNA-Uridine Isomerase I EC 5.4.99.12 EC 5.4.99.-
Location (GRCh38)
12:131929200-131945896
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_025215.6
Sequence length
4041.0 nt
GC content
0.5907

Transcripts

ID Sequence Length GC content
NM_001002019.3 NCBI
AGUCAGCCGCGUCGCGAAUGGGGCAGGAGCGAGCCUCUCUGGUCCCGAC… 3649 nt 0.5785
NM_001002020.3 NCBI
AGUCAGCCGCGUCGCGAAUGGGGCAGGAGCGAGCCUCUCUGGUCCCGAC… 3625 nt 0.5785
NM_025215.6 NCBI
AGUCAGCCGCGUCGCGAAUGGGGCAGGAGCGAGCCUCUCUGGUCCCGAC… 4041 nt 0.5907
Summary

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]

Forensic Context

No relevant information is available at the moment.