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PUS1

GENERAL INFORMATION

Gene name

 PUS1

Gene description

 Pseudouridylate synthase 1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA051636
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 80324

UniProt

 Q9Y606 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9Y606

Antibodypedia

 PUS1 antibodies

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

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PUS1-001
ENSP00000365837
ENST00000376649
Q9Y606 [Direct mapping]
tRNA pseudouridine synthase A, mitochondrial
E5KMT5 [Target identity:100%; Query identity:100%]
tRNA pseudouridine synthase
Show all
Enzymes
   ENZYME proteins
   Isomerase
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000790 [nuclear chromatin]
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0004730 [pseudouridylate synthase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0006400 [tRNA modification]
GO:0008033 [tRNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
GO:0010467 [gene expression]
GO:0030374 [ligand-dependent nuclear receptor transcription coactivator activity]
GO:0031119 [tRNA pseudouridine synthesis]
GO:0044822 [poly(A) RNA binding]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
Show all
 427 aa
47.5 kDa 		No 0
PUS1-002
ENSP00000392451
ENST00000443358
Q9Y606 [Direct mapping]
tRNA pseudouridine synthase A, mitochondrial
E5KMT6 [Target identity:100%; Query identity:100%]
tRNA pseudouridine synthase
Show all
Enzymes
   ENZYME proteins
   Isomerase
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0004730 [pseudouridylate synthase activity]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0006400 [tRNA modification]
GO:0008033 [tRNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
GO:0010467 [gene expression]
GO:0044822 [poly(A) RNA binding]
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 399 aa
44.4 kDa 		No 0
PUS1-003
ENSP00000324726
ENST00000322060
G8JLB3 [Direct mapping]
tRNA pseudouridine synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0008033 [tRNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 384 aa
42.9 kDa 		No 0
PUS1-004
ENSP00000438948
ENST00000542167
F5H1S9 [Direct mapping]
tRNA pseudouridine synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0008033 [tRNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 374 aa
41.7 kDa 		No 0
PUS1-005
ENSP00000440326
ENST00000538037
F5GY32 [Direct mapping]
tRNA pseudouridine synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0008033 [tRNA processing]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 153 aa
16.8 kDa 		No 0
PUS1-007
ENSP00000440179
ENST00000537484
F5GXL3 [Direct mapping]
tRNA pseudouridine synthase A, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 200 aa
22 kDa 		No 0
PUS1-008
ENSP00000409705
ENST00000456665
F8W9U5 [Direct mapping]
tRNA pseudouridine synthase A, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 156 aa
17 kDa 		No 0
PUS1-009
ENSP00000445819
ENST00000544213
F5H1B2 [Direct mapping]
tRNA pseudouridine synthase A, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 184 aa
20 kDa 		No 0
PUS1-010
ENSP00000443969
ENST00000535067
F5H168 [Direct mapping]
tRNA pseudouridine synthase A, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001522 [pseudouridine synthesis]
GO:0003723 [RNA binding]
GO:0009451 [RNA modification]
GO:0009982 [pseudouridine synthase activity]
Show all
 134 aa
14.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.