PUS1

GENE INFORMATION

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Gene name

PUS1

Synonyms

Description

Pseudouridylate synthase 1 (HGNC Symbol)

Entrez gene 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.[provided by RefSeq, Sep 2009]

Chromosome

12

Cytoband

q24.33

Chromosome location (bp)

131929200 - 131945896

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000177192 (version 78.38)

Entrez gene

80324

UniProt

Q9Y606 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y606

Antibodypedia

PUS1 antibodies
 

PROTEIN VIEW

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PUS1-001
 
PUS1-002
 
PUS1-003
 
PUS1-004
 
PUS1-005
 
PUS1-007
 
PUS1-008
 
PUS1-009
 
PUS1-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PUS1-001 ENSP00000365837
ENST00000376649
Q9Y606
Show all »
Show » Show » 427 47.5 No 0
PUS1-002 ENSP00000392451
ENST00000443358
Q9Y606
Show all »
Show » Show » 399 44.4 No 0
PUS1-003 ENSP00000324726
ENST00000322060
G8JLB3
Show all »
Show » Show » 384 42.9 No 0
PUS1-004 ENSP00000438948
ENST00000542167
F5H1S9
Show all »
Show » Show » 374 41.7 No 0
PUS1-005 ENSP00000440326
ENST00000538037
F5GY32
Show all »
Show » Show » 153 16.8 No 0
PUS1-007 ENSP00000440179
ENST00000537484
F5GXL3
Show all »
Show » Show » 200 22 No 0
PUS1-008 ENSP00000409705
ENST00000456665
F8W9U5
Show all »
Show » Show » 156 17 No 0
PUS1-009 ENSP00000445819
ENST00000544213
F5H1B2
Show all »
Show » Show » 184 20 No 0
PUS1-010 ENSP00000443969
ENST00000535067
F5H168
Show all »
Show » Show » 134 14.5 No 0