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    APTX aprataxin [ Homo sapiens (human) ]

    Gene ID: 54840, updated on 23-May-2018
    Official Symbol
    APTXprovided by HGNC
    Official Full Name
    aprataxinprovided by HGNC
    Primary source
    HGNC:HGNC:15984
    See related
    Ensembl:ENSG00000137074 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]
    Expression
    Ubiquitous expression in kidney (RPKM 2.7), testis (RPKM 2.3) and 25 other tissues See more
    Orthologs
    See APTX in Genome Data Viewer
    Location:
    9p21.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (32883872..33025131, 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 uncharacterized LOC107987060 Neighboring gene bolA family member 3 pseudogene 4 Neighboring gene argininosuccinate synthetase 1 pseudogene 12 Neighboring gene transcription elongation factor A protein 1 pseudogene Neighboring gene transcription elongation factor A1 pseudogene 4 Neighboring gene L antigen family member 3 pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene SMU1, DNA replication regulator and spliceosomal factor

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA 5'-adenosine monophosphate hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-3'-diphospho-5'-guanosine diphosphatase IEA
    Inferred from Electronic Annotation
    more info
     
    adenylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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
     
    mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphoglycolate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphoprotein binding IPI
    Inferred from Physical Interaction
    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 
    single-strand break-containing DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA ligation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    phosphate-containing compound metabolic process IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    aprataxin
    Names
    forkhead-associated domain histidine triad-like protein
    NP_001182177.1
    NP_001182178.1
    NP_001182179.1
    NP_001182180.1
    NP_001182181.1
    NP_001182183.1
    NP_778239.1
    NP_778243.1
    XP_006716854.1
    XP_006716855.1
    XP_011516240.1
    XP_011516241.1
    XP_016870320.1
    XP_016870321.1
    XP_016870322.1
    XP_016870325.1
    XP_016870326.1
    XP_016870327.1
    XP_024303343.1
    XP_024303344.1
    XP_024303345.1
    XP_024303346.1
    XP_024303347.1
    XP_024303348.1
    XP_024303349.1
    XP_024303350.1

    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001195248.1NP_001182177.1  aprataxin isoform e

      See identical proteins and their annotated locations for 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
      ENSP00000369147.1, OTTHUMP00000021190, ENST00000379819.5, OTTHUMT00000052028
      Conserved Domains (3) summary
      cd00060
      Location:20113
      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
      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 ...
      pfam16278
      Location:298356
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    2. NM_001195249.1NP_001182178.1  aprataxin isoform a

      See identical proteins and their annotated locations for 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
      ENSP00000400806.3, ENST00000436040.6
      Conserved Domains (3) summary
      cd01278
      Location:164265
      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 ...
      pfam16278
      Location:283342
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    3. NM_001195250.1NP_001182179.1  aprataxin isoform f

      See identical proteins and their annotated locations for 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
      Related
      ENSP00000419042.1, OTTHUMP00000215291, ENST00000476858.5, OTTHUMT00000355312
      Conserved Domains (2) summary
      cd01278
      Location:124225
      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 ...
      pfam16278
      Location:244302
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    4. NM_001195251.1NP_001182180.1  aprataxin isoform g

      See identical proteins and their annotated locations for 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
      cd01278
      Location:164265
      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 ...
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    5. NM_001195252.1NP_001182181.1  aprataxin isoform i

      See identical proteins and their annotated locations for 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
      ENSP00000380357.3, OTTHUMP00000215305, ENST00000397172.7, OTTHUMT00000355327
      Conserved Domains (3) summary
      cd00060
      Location:20103
      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
      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 ...
      pfam16278
      Location:226284
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    6. NM_001195254.1NP_001182183.1  aprataxin isoform h

      See identical proteins and their annotated locations for 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
      Related
      ENSP00000311547.4, ENST00000309615.7
      Conserved Domains (3) summary
      cd01278
      Location:110211
      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 ...
      pfam16278
      Location:229288
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:344
      PNK3P; Polynucleotide kinase 3 phosphatase
    7. NM_175069.2NP_778239.1  aprataxin isoform b

      See identical proteins and their annotated locations for 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
      Consensus CDS
      CCDS6532.1
      UniProtKB/Swiss-Prot
      Q7Z2E3
      Related
      ENSP00000369153.2, OTTHUMP00000021189, ENST00000379825.6, OTTHUMT00000052027
      Conserved Domains (2) summary
      cd00060
      Location:20113
      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
      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 identical proteins and their annotated locations for 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
      Related
      ENSP00000420263.1, OTTHUMP00000215302, ENST00000468275.5, OTTHUMT00000355323
      Conserved Domains (3) summary
      cd01278
      Location:164265
      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 ...
      pfam16278
      Location:283342
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase

    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
      Related
      ENST00000467331.5, OTTHUMT00000355318
    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
      Related
      ENST00000465003.5, OTTHUMT00000052026
    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
      Related
      ENST00000494649.5, OTTHUMT00000355315

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      32883872..33025131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014831.1XP_016870320.1  aprataxin isoform X1

    2. XM_017014832.1XP_016870321.1  aprataxin isoform X2

    3. XM_024447578.1XP_024303346.1  aprataxin isoform X5

      Conserved Domains (2) summary
      cd01278
      Location:178271
      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 ...
      cl26711
      Location:14121
      PNK3P; Polynucleotide kinase 3 phosphatase
    4. XM_017014833.2XP_016870322.1  aprataxin isoform X4

    5. XM_017014836.2XP_016870325.1  aprataxin isoform X6

    6. XM_024447577.1XP_024303345.1  aprataxin isoform X3

      Conserved Domains (3) summary
      cd01278
      Location:164265
      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 ...
      pfam16278
      Location:283342
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    7. XM_024447575.1XP_024303343.1  aprataxin isoform X3

      Conserved Domains (3) summary
      cd01278
      Location:164265
      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 ...
      pfam16278
      Location:283342
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    8. XM_006716791.4XP_006716854.1  aprataxin isoform X3

      See identical proteins and their annotated locations for XP_006716854.1

      UniProtKB/Swiss-Prot
      Q7Z2E3
      Related
      ENSP00000369145.2, OTTHUMP00000215296, ENST00000379817.6
      Conserved Domains (3) summary
      cd01278
      Location:164265
      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 ...
      pfam16278
      Location:283342
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    9. XM_024447576.1XP_024303344.1  aprataxin isoform X3

      Conserved Domains (3) summary
      cd01278
      Location:164265
      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 ...
      pfam16278
      Location:283342
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    10. XM_017014837.2XP_016870326.1  aprataxin isoform X8

      UniProtKB/Swiss-Prot
      Q7Z2E3
      Conserved Domains (3) summary
      cd01278
      Location:110211
      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 ...
      pfam16278
      Location:229288
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:344
      PNK3P; Polynucleotide kinase 3 phosphatase
    11. XM_024447582.1XP_024303350.1  aprataxin isoform X9

      Conserved Domains (2) summary
      cd01278
      Location:76177
      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 ...
      pfam16278
      Location:195254
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    12. XM_024447580.1XP_024303348.1  aprataxin isoform X8

      Conserved Domains (3) summary
      cd01278
      Location:110211
      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 ...
      pfam16278
      Location:229288
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      cl26711
      Location:344
      PNK3P; Polynucleotide kinase 3 phosphatase
    13. XM_024447581.1XP_024303349.1  aprataxin isoform X9

      Conserved Domains (2) summary
      cd01278
      Location:76177
      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 ...
      pfam16278
      Location:195254
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    14. XM_011517939.3XP_011516241.1  aprataxin isoform X9

      See identical proteins and their annotated locations for XP_011516241.1

      UniProtKB/Swiss-Prot
      Q7Z2E3
      Conserved Domains (2) summary
      cd01278
      Location:76177
      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 ...
      pfam16278
      Location:195254
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    15. XM_011517938.2XP_011516240.1  aprataxin isoform X9

      See identical proteins and their annotated locations for XP_011516240.1

      UniProtKB/Swiss-Prot
      Q7Z2E3
      Conserved Domains (2) summary
      cd01278
      Location:76177
      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 ...
      pfam16278
      Location:195254
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    16. XM_006716792.3XP_006716855.1  aprataxin isoform X9

      See identical proteins and their annotated locations for XP_006716855.1

      UniProtKB/Swiss-Prot
      Q7Z2E3
      Conserved Domains (2) summary
      cd01278
      Location:76177
      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 ...
      pfam16278
      Location:195254
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    17. XM_024447579.1XP_024303347.1  aprataxin isoform X7

      Conserved Domains (2) summary
      cd01278
      Location:164265
      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 ...
      cl26711
      Location:3107
      PNK3P; Polynucleotide kinase 3 phosphatase
    18. XM_017014838.1XP_016870327.1  aprataxin isoform X10

    RNA

    1. XR_428423.3 RNA Sequence

      Related
      ENST00000483148.5
    2. XR_929276.3 RNA Sequence

    3. XR_929277.3 RNA Sequence

    4. XR_001746325.2 RNA Sequence

    5. XR_001746326.2 RNA Sequence

    6. XR_929279.1 RNA Sequence

    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.
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