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APTX aprataxin [ Homo sapiens (human) ]

Gene ID: 54840, updated on 7-Aug-2014
Official Symbol
APTXprovided by HGNC
Official Full Name
aprataxinprovided by HGNC
Primary source
HGNC:15984
Locus tag
RP11-562M8.1
See related
Ensembl:ENSG00000137074; HPRD:05892; MIM:606350; Vega:OTTHUMG00000019759
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
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]
See APTX in Epigenomics, MapViewer
Location:
9p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (32972606..33001641, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32972604..33001639, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 215 Neighboring gene argininosuccinate synthetase 1 pseudogene 12 Neighboring gene transcription elongation factor A (SII), 1 pseudogene 4 Neighboring gene L antigen family, member 3 pseudogene 1 Neighboring gene DnaJ (Hsp40) homolog, subfamily A, member 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1072, FLJ20157

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA 5'-adenosine monophosphate hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphoglycolate phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
 
polynucleotide 3'-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, exonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA catabolic process, exonucleolytic IEA
Inferred from Electronic Annotation
more info
 
DNA ligation IEA
Inferred from Electronic Annotation
more info
 
cell death IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
polynucleotide 3' dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
single strand break repair IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with nuclear chromatin IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
aprataxin
Names
aprataxin
forkhead-associated domain histidine triad-like protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012821.1 

    Range
    4988..34023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195248.1NP_001182177.1  aprataxin isoform e

    See proteins identical to NP_001182177.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an exon in the 5' UTR compared to variant 1. This results in translation initiation at an upstream ATG and an isoform (e) with a longer N-terminus compared to isoform a.
    Source sequence(s)
    AA494365, AL353717, AY040777, AY208830
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Related
    ENSP00000369147, OTTHUMP00000021190, ENST00000379819, OTTHUMT00000052028
    Conserved Domains (2) summary
    cd00060
    Location:20113
    Blast Score: 112
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:178279
    Blast Score: 406
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  2. NM_001195249.1NP_001182178.1  aprataxin isoform a

    See proteins identical to NP_001182178.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1 and 7 encode the same isoform (a).
    Source sequence(s)
    AA494365, AL353717, AY208836, DA664623
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Related
    ENSP00000369145, OTTHUMP00000215296, ENST00000379817, OTTHUMT00000355317
    Conserved Domains (2) summary
    cd00060
    Location:699
    Blast Score: 112
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:164265
    Blast Score: 404
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  3. NM_001195250.1NP_001182179.1  aprataxin isoform f

    See proteins identical to NP_001182179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform f, which is shorter than isoform a.
    Source sequence(s)
    AA494365, AL353717, AY208830
    Consensus CDS
    CCDS56568.1
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (1) summary
    cd01278
    Location:124225
    Blast Score: 404
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  4. NM_001195251.1NP_001182180.1  aprataxin isoform g

    See proteins identical to NP_001182180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This variant encodes isoform g, which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AA494365, AY208830, BX538161
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (2) summary
    cd00060
    Location:699
    Blast Score: 112
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:164265
    Blast Score: 406
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  5. NM_001195252.1NP_001182181.1  aprataxin isoform i

    See proteins identical to NP_001182181.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) has multiple differences compared to variant 1. These differences result in translation initiation at an upstream ATG and an isoform (i) with a longer N-terminus but an overall shorter length compared to isoform a.
    Source sequence(s)
    AA494365, AY208830, AY208831
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Related
    ENSP00000380357, OTTHUMP00000215305, ENST00000397172, OTTHUMT00000355327
    Conserved Domains (2) summary
    cd00060
    Location:20103
    Blast Score: 100
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:106207
    Blast Score: 397
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  6. NM_001195254.1NP_001182183.1  aprataxin isoform h

    See proteins identical to NP_001182183.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform h, which is shorter than isoform a.
    Source sequence(s)
    AA494365, AL353717, AY208833, DB042208
    Consensus CDS
    CCDS75827.1
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (1) summary
    cd01278
    Location:110211
    Blast Score: 402
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  7. NM_175069.2NP_778239.1  aprataxin isoform b

    See proteins identical to NP_778239.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in translation initiation at an upstream ATG and an isoform (b) with a longer N-terminus and a shorter C-terminus compared to isoform a.
    Source sequence(s)
    AA494365, AK055672, AY208830
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Related
    ENSP00000311547, ENST00000309615
    Conserved Domains (2) summary
    cd00060
    Location:20113
    Blast Score: 111
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:178279
    Blast Score: 408
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  8. NM_175073.2NP_778243.1  aprataxin isoform a

    See proteins identical to NP_778243.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 7 encode the same isoform (a).
    Source sequence(s)
    AA494365, AL353717, AY208830, AY208837
    Consensus CDS
    CCDS47956.1
    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (2) summary
    cd00060
    Location:699
    Blast Score: 112
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:164265
    Blast Score: 404
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...

RNA

  1. NR_036576.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA494365, AL353717, AY208830, AY208840
  2. NR_036577.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA494365, AL353717, AY208830, BC001628
  3. NR_036578.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA494365, AL353717, AY208835, DB042208
  4. NR_036579.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 7, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA494365, AL353717, AY208839, DA664623

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    32972606..33001641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716791.1XP_006716854.1  

    See proteins identical to XP_006716854.1

    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (2) summary
    cd00060
    Location:699
    Blast Score: 112
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01278
    Location:164265
    Blast Score: 404
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...
  2. XM_006716792.1XP_006716855.1  

    See proteins identical to XP_006716855.1

    UniProtKB/Swiss-Prot
    Q7Z2E3
    Conserved Domains (1) summary
    cd01278
    Location:76177
    Blast Score: 401
    aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...

RNA

  1. XR_428423.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    32930986..32960001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    32972285..33001325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017692.2: Suppressed sequence

    Description
    NM_017692.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_175072.1: Suppressed sequence

    Description
    NM_175072.1: This RefSeq was permanently suppressed because the transcript is likely partial.