Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000542167.2PUS1-0042151374aaENSP00000438948.1
 
Protein coding
F5H1S9 -GENCODE basic
ENST00000376649.3PUS1-0012057427aaENSP00000365837.3
 
Protein coding
CCDS9275E5KMT5 E5KMT6 F5GY32
G8JLB3 Q9Y606
NM_025215.5GENCODE basic
ENST00000443358.2PUS1-0021664399aaENSP00000392451.2
 
Protein coding
CCDS31928E5KMT6 F5GY32 G8JLB3
Q9Y606
NM_001002020.2GENCODE basic
ENST00000440818.2PUS1-2011637399aaENSP00000400032.2
 
Protein coding
CCDS31928E5KMT6 F5GY32 G8JLB3
Q9Y606
NM_001002019.2GENCODE basic
ENST00000322060.5PUS1-0031207384aaENSP00000324726.5
 
Protein coding
F5GY32 G8JLB3 -CDS 3' incomplete
ENST00000535067.1PUS1-010838134aaENSP00000443969.1
 
Protein coding
F5H168 -GENCODE basic
ENST00000544213.1PUS1-009687184aaENSP00000445819.1
 
Protein coding
F5H1B2 F8W9U5 -CDS 3' incomplete
ENST00000537484.1PUS1-007642200aaENSP00000440179.1
 
Protein coding
F5GXL3 F8W9U5 -CDS 3' incomplete
ENST00000538037.1PUS1-005632153aaENSP00000440326.1
 
Protein coding
F5GY32 -CDS 3' incomplete
ENST00000456665.2PUS1-008577156aaENSP00000409705.2
 
Protein coding
F8W9U5 -CDS 3' incomplete
ENST00000543754.1PUS1-0111378No protein-
 
Retained intron
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ENST00000544662.1PUS1-006836No protein-
 
Retained intron
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