Description
pseudouridylate synthase 1 [Source:HGNC Symbol;Acc:15508]
Gene Synonyms
MLASA1
Location
Chromosome 12: 132,413,745-132,428,406 forward strand.
GRCh37:CM000674.1
About this gene
This gene has 12 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000376649.3 | PUS1-001 | 2057 | 427aa | ENSP00000365837.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9275 | E5KMT5 E5KMT6 F5GY32 G8JLB3 Q9Y606 | NM_025215.5 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000542167.2 | PUS1-004 | 2151 | 374aa | ENSP00000438948.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H1S9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000443358.2 | PUS1-002 | 1664 | 399aa | ENSP00000392451.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31928 | E5KMT6 F5GY32 G8JLB3 Q9Y606 | NM_001002020.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000440818.2 | PUS1-201 | 1637 | 399aa | ENSP00000400032.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31928 | E5KMT6 F5GY32 G8JLB3 Q9Y606 | NM_001002019.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000322060.5 | PUS1-003 | 1207 | 384aa | ENSP00000324726.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GY32 G8JLB3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000535067.1 | PUS1-010 | 838 | 134aa | ENSP00000443969.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H168 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000544213.1 | PUS1-009 | 687 | 184aa | ENSP00000445819.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H1B2 F8W9U5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000537484.1 | PUS1-007 | 642 | 200aa | ENSP00000440179.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GXL3 F8W9U5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000538037.1 | PUS1-005 | 632 | 153aa | ENSP00000440326.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GY32 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000456665.2 | PUS1-008 | 577 | 156aa | ENSP00000409705.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W9U5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000543754.1 | PUS1-011 | 1378 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000544662.1 | PUS1-006 | 836 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
