RBCC Red Blood Cell Collection

TRUA_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PUS1 , PP8985
Protein names and data: TRUA_HUMAN , tRNA pseudouridine synthase A, mitochondrial; 5.4.99.12 , tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA-uridine isomerase I; Flags: Precursor Lenght: 427 a.a.
Mass: 47470 Da
fasta formatted sequence
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).
Catalytic activity: tRNA uridine(38-40) = tRNA pseudouridine(38- 40).
Disease: ( OMIM: 600462 608109 ) Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform 1: Mitochondrion. Isoform 2: Nucleus.
Tissue specificity: Widely expressed. High levels of expression found in brain and skeletal muscle.

Genetic variants

133 - 133 D -> N (in a breast cancer sample; somatic mutation). VAR_036447
144 - 144 R -> W (in MLASA1). VAR_021788

Database cross-references

UniProt: Q9Y606
Ensembl: ENST00000376649
Ensembl: ENST00000440818
Ensembl: ENST00000443358
MIM: 600462
MIM: 608109
neXtProt: NX_Q9Y606
Antibodypedia: Q9Y606 (may not find the protein thus also not any antibody)
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