Official symbol | PUS1 |
Gene id | 80324 |
Organism | Homo sapiens |
Official full symbol | pseudouridine synthase 1 |
Gene type | protein-coding |
Also known as | MLASA1 |
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. |
Genomic regions | Chromosome 12 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PUS1-202 | ENST00000376649.8 | 4041 | 427aa | Protein coding | CCDS9275 | Q9Y606-1 | NM_025215.6 | TSL:1, GENCODE basic, APPRIS ALT2, MANE Select v0.92, |
PUS1-203 | ENST00000443358.6 | 1664 | 399aa | Protein coding | CCDS31928 | Q9Y606-2 | - | TSL:1, GENCODE basic, APPRIS P4, |
PUS1-208 | ENST00000542167.2 | 2151 | 374aa | Protein coding | - | F5H1S9 | - | TSL:5, GENCODE basic, |
PUS1-201 | ENST00000322060.9 | 1206 | 384aa | Protein coding | - | G8JLB3 | - | CDS 3' incomplete, TSL:5, |
PUS1-205 | ENST00000535067.5 | 838 | 134aa | Protein coding | - | F5H168 | - | TSL:3, GENCODE basic, |
PUS1-210 | ENST00000544213.5 | 687 | 184aa | Protein coding | - | F5H1B2 | - | CDS 3' incomplete, TSL:5, |
PUS1-206 | ENST00000537484.1 | 642 | 200aa | Protein coding | - | F5GXL3 | - | CDS 3' incomplete, TSL:3, |
PUS1-207 | ENST00000538037.5 | 631 | 153aa | Protein coding | - | F5GY32 | - | CDS 3' incomplete, TSL:5, |
PUS1-204 | ENST00000456665.6 | 577 | 156aa | Protein coding | - | F8W9U5 | - | CDS 3' incomplete, TSL:5, |
PUS1-209 | ENST00000543754.1 | 1378 | No protein | Retained intron | - | - | - | TSL:2, |
PUS1-211 | ENST00000544662.1 | 836 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | PUS1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PUS1 had been KO in hek293t cell line. |
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