APTX

GENE INFORMATION

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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)

32972604 - 33025166

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000137074 (version 75.37)

Entrez gene

54840

UniProt

Q7Z2E3 (UniProt - Evidence at protein level)

neXtProt

NX_Q7Z2E3

Antibodypedia

APTX antibodies
 

PROTEIN VIEW

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 « 
 
APTX-001
 
APTX-002
 
APTX-003
 
APTX-004
 
APTX-006
 
APTX-007
 
APTX-008
 
APTX-009
 
APTX-010
 
APTX-011
 
APTX-012
 
APTX-013
 
APTX-014
 
APTX-015
 
APTX-016
 
APTX-017
 
APTX-018
 
APTX-019
 
APTX-021
 
APTX-025
 
APTX-026
 
APTX-027
 
APTX-028
 
APTX-030
 
APTX-201
 
APTX-202
 
APTX-203
 
 » 
 
 
 
 

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)

APTX-001 ENSP00000419430
ENST00000465003
Q6JV79
Show all »
Show » Show » 85 10.1 No 0
APTX-002 ENSP00000369153
ENST00000379825
Q7Z2E3
Show all »
Show » Show » 306 34.9 No 0
APTX-003 ENSP00000369147
ENST00000379819
Q7Z2E3
Show all »
Show » Show » 356 40.7 No 0
APTX-004 ENSP00000420071
ENST00000479656
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-006 ENSP00000419042
ENST00000476858
Q7Z2E3
Show all »
Show » Show » 302 34.8 No 0
APTX-007 ENSP00000419846
ENST00000463596
Q7Z2E3
Show all »
Show » Show » 342 39.1 No 0
APTX-008 ENSP00000419623
ENST00000495360
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-009 ENSP00000417634
ENST00000494649
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-010 ENSP00000418144
ENST00000485479
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-011 ENSP00000369145
ENST00000379817
Q7Z2E3
Show all »
Show » Show » 342 39.1 No 0
APTX-012 ENSP00000418733
ENST00000467331
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-013 ENSP00000417804
ENST00000472896
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-014 ENSP00000419723
ENST00000483148
Q6JV79
Show all »
Show » Show » 85 10.1 No 0
APTX-015 ENSP00000419289
ENST00000482687
Q7Z2E3
Show all »
Show » Show » 192 21.4 No 0
APTX-016 ENSP00000418311
ENST00000460940
Q7Z2E3
Show all »
Show » Show » 49 5.8 No 0
APTX-017 ENSP00000420263
ENST00000468275
Q7Z2E3
Show all »
Show » Show » 342 39.1 No 0
APTX-018 ENSP00000418069
ENST00000464632
E7EUY4
Show all »
Show » Show » 63 7.5 No 0
APTX-019 ENSP00000419597
ENST00000478279
E7EVB7
Show all »
Show » Show » 99 11.7 No 0
APTX-021 ENSP00000380357
ENST00000397172
Q7Z2E3
Show all »
Show » Show » 284 32.9 No 0
APTX-025 ENSP00000419020
ENST00000473221
C9JZ40
Show all »
Show » Show » 216 24.6 No 0
APTX-026 ENSP00000417649
ENST00000477119
C9J8U3
Show all »
Show » Show » 155 17.7 No 0
APTX-027 ENSP00000417684
ENST00000480031
F8WBD6
Show all »
Show » Show » 52 6.2 No 0
APTX-028 ENSP00000417750
ENST00000474658
Show » Show » 74 8.5 No 0
APTX-030 ENSP00000369140
ENST00000379812
F8W6G5
Show all »
Show » Show » 198 22.8 No 0
APTX-201 ENSP00000311547
ENST00000309615
Q7Z2E3
Show all »
Show » Show » 306 34.9 No 0
APTX-202 ENSP00000369141
ENST00000379813
Q7Z2E3
Show all »
Show » Show » 342 39.1 No 0
APTX-203 ENSP00000400806
ENST00000436040
Q7Z2E3
Show all »
Show » Show » 192 21.4 No 0