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Gene : PUS1 Homo sapiens

Name  ? pseudouridine synthase 1 Cytological Location  12q24.33
Brief Description  pseudouridylate synthase 1
description  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.[provided by RefSeq, Sep 2009]
  • synonyms:
  • HGNC:15508,
  • tRNA pseudouridine(38-40) synthase,
  • NM_025215,
  • PUS1,
  • OTTHUMG00000128507,
  • uc001ujf.4,
  • AF116238,
  • MLASA1,
  • pseudouridylate synthase 1
  • identifiers:
  • 80324,
  • ENSG00000177192,
  • PUS1

Genome feature

Region: gene ? Length: 14841  
Location: 12:131929200-131944040 Cyto location: 12q24.33


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Function

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

65 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results