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APTX

GENERAL INFORMATION

Gene name

 APTX

Gene description

 Aprataxin

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 13
SHOW MORE

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

 Ubiquitous nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA064930
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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

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

 APTX (HGNC Symbol)

Synonyms

 AOA, AOA1, AXA1, EAOH, EOAHA, FLJ20157

Description

 Aprataxin (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]

Chromosome

 9

Cytoband

 p21.1

Chromosome location (bp)

 32972606 - 33025168

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000137074 (version 83.38)

Entrez gene

 54840

UniProt

 Q7Z2E3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q7Z2E3

Antibodypedia

 APTX antibodies

PROTEIN BROWSER
«
APTX-002
APTX-003
APTX-006
APTX-007
APTX-011
APTX-017
APTX-021
APTX-025
APTX-026
APTX-030
APTX-201
APTX-202
APTX-203
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
APTX-002
ENSP00000369153
ENST00000379825
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 306 aa
34.9 kDa 		No 0
APTX-003
ENSP00000369147
ENST00000379819
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 356 aa
40.7 kDa 		No 0
APTX-006
ENSP00000419042
ENST00000476858
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 302 aa
34.8 kDa 		No 0
APTX-007
ENSP00000419846
ENST00000463596
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 342 aa
39.1 kDa 		No 0
APTX-011
ENSP00000369145
ENST00000379817
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 342 aa
39.1 kDa 		No 0
APTX-017
ENSP00000420263
ENST00000468275
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 342 aa
39.1 kDa 		No 0
APTX-021
ENSP00000380357
ENST00000397172
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 284 aa
32.9 kDa 		No 0
APTX-025
ENSP00000419020
ENST00000473221
C9JZ40 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003824 [catalytic activity]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 216 aa
24.6 kDa 		No 0
APTX-026
ENSP00000417649
ENST00000477119
C9J8U3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0006281 [DNA repair]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 155 aa
17.7 kDa 		No 0
APTX-030
ENSP00000369140
ENST00000379812
F8W6G5 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0006281 [DNA repair]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 198 aa
22.8 kDa 		No 0
APTX-201
ENSP00000311547
ENST00000309615
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 288 aa
33.1 kDa 		No 0
APTX-202
ENSP00000369141
ENST00000379813
A0A0A0MRW7 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0006281 [DNA repair]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0046872 [metal ion binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 336 aa
38.5 kDa 		No 0
APTX-203
ENSP00000400806
ENST00000436040
Q7Z2E3 [Direct mapping]
Aprataxin
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000012 [single strand break repair]
GO:0000785 [chromatin]
GO:0000790 [nuclear chromatin]
GO:0003682 [chromatin binding]
GO:0003684 [damaged DNA binding]
GO:0003690 [double-stranded DNA binding]
GO:0003725 [double-stranded RNA binding]
GO:0003824 [catalytic activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006266 [DNA ligation]
GO:0006302 [double-strand break repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0008967 [phosphoglycolate phosphatase activity]
GO:0016311 [dephosphorylation]
GO:0031647 [regulation of protein stability]
GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity]
GO:0042542 [response to hydrogen peroxide]
GO:0046403 [polynucleotide 3'-phosphatase activity]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0051219 [phosphoprotein binding]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0098506 [polynucleotide 3' dephosphorylation]
Show all
 342 aa
39.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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