full name
pseudouridylate synthase 1

synonyms
MLASA1, PUS1, ENSG00000177192

HGNC
HGNC:15508

Entrez Gene
Gene:80324

ENSEMBL
ENSG00000177192

location
chr: 12
start: 132413745
stop: 132428406
strand: +

OMIM
OMIM:608109: PUS1 (Autosomal recessive inheritance)
OMIM:600462: Myopathy, lactic acidosis, and sideroblastic anemia 1

transcripts
NM_001002020.2
NM_001002019.2
NM_025215.5

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
tRNA modification in the mitochondrion [NCBI:1339124] [REACTOME:R-HSA-6787450] [PUBMED:25734984] [PUBMED:25780173] [PUBMED:21910628] [PUBMED:24581449]
tRNA modification in the nucleus and cytosol [NCBI:1309090] [REACTOME:R-HSA-6782315] [PUBMED:24581449] [PUBMED:24898039] [PUBMED:23139145] [PUBMED:25692999] [PUBMED:24490730] [PUBMED:25780173] [PUBMED:25304425] [PUBMED:24315934]
tRNA processing [NCBI:1309088] [REACTOME:R-HSA-72306] [PUBMED:24315934] [PUBMED:24917879] [PUBMED:7759547] [PUBMED:24898039] [PUBMED:26016801] [PUBMED:24490730] [PUBMED:20810645] [PUBMED:21910628]