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) and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000542167.2 | PUS1-004 | 2151 | 374aa | ENSP00000438948.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H1S9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |