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    Aptx aprataxin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 259271, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Aptxprovided by RGD
    Official Full Name
    aprataxinprovided by RGD
    Primary source
    RGD:628740
    See related
    EnsemblRapid:ENSRNOG00000006582 AllianceGenome:RGD:628740
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable several functions, including hydrolase activity, acting on ester bonds; nucleic acid binding activity; and phosphoprotein binding activity. Predicted to be involved in regulation of protein stability and single strand break repair. Predicted to act upstream of or within DNA ligation. Predicted to be located in chromatin; nucleolus; and nucleoplasm. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 74.5), Thymus (RPKM 65.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Aptx in Genome Data Viewer
    Location:
    5q22
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (60593338..60618946, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (55798896..55822963, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (56987714..57009481, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene SUMO-conjugating enzyme UBC9-like Neighboring gene ribosomal protein L24, pseudogene 4 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene microRNA 207 Neighboring gene SMU1, DNA replication regulator and spliceosomal factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Castellotti B, et al. Neurogenetics, 2011 Aug. PMID 21465257
    2. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. Ferrarini M, et al. J Neurol Sci, 2007 Sep 15. PMID 17572444
    3. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Takahashi T, et al. Nucleic Acids Res, 2007. PMID 17519253, Free PMC Article
    4. Actions of aprataxin in multiple DNA repair pathways. Rass U, et al. J Biol Chem, 2007 Mar 30. PMID 17276982
    5. Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. Kijas AW, et al. J Biol Chem, 2006 May 19. PMID 16547001

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA 5'-adenosine monophosphate hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA 5'-adenosine monophosphate hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA 5'-adenosine monophosphate hydrolase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-3'-diphospho-5'-guanosine diphosphatase IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables damaged DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphoglycolate phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoglycolate phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphoprotein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables polynucleotide 3'-phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-strand break-containing DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA ligation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA ligation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in regulation of protein stability IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein stability ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in single strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in single strand break repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single strand break repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    aprataxin
    Names
    FHA-HIT
    forkhead-associated domain histidine triad-like protein
    NP_683687.1
    XP_006238089.1
    XP_006238090.1
    XP_006238091.1
    XP_008761829.1
    XP_017448660.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_148889.2 → NP_683687.1  aprataxin

      See identical proteins and their annotated locations for NP_683687.1

      Status: PROVISIONAL

      Source sequence(s)
      BC078716
      UniProtKB/Swiss-Prot
      Q8K4H4
      UniProtKB/TrEMBL
      A0A8L2R5W7, A6IIS0
      Related
      ENSRNOP00000046400.4, ENSRNOT00000046463.6
      Conserved Domains (3) summary
      cd00060
      Location:24 → 98
      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:151 → 252
      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:271 → 327
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086023.1 Reference GRCr8

      Range
      60593338..60618946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006238028.5 → XP_006238090.1  aprataxin isoform X2

      See identical proteins and their annotated locations for XP_006238090.1

      UniProtKB/Swiss-Prot
      Q8K4H4
      UniProtKB/TrEMBL
      A0A8L2R5W7, A6IIS0
      Conserved Domains (3) summary
      cd00060
      Location:24 → 98
      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:151 → 252
      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:271 → 327
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

    2. XM_017593171.3 → XP_017448660.1  aprataxin isoform X1

      UniProtKB/TrEMBL
      A0A8I6GL70, A0A8L2R5W7
      Conserved Domains (3) summary
      cd00060
      Location:38 → 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:165 → 266
      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:285 → 341
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

    3. XM_008763607.4 → XP_008761829.1  aprataxin isoform X3

      See identical proteins and their annotated locations for XP_008761829.1

      UniProtKB/TrEMBL
      A0A8L2R5W7
      Conserved Domains (3) summary
      cd01278
      Location:92 → 193
      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:211 → 268
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      pfam17913
      Location:2 → 41
      FHA_2; FHA domain

    4. XM_006238027.5 → XP_006238089.1  aprataxin isoform X2

      See identical proteins and their annotated locations for XP_006238089.1

      UniProtKB/Swiss-Prot
      Q8K4H4
      UniProtKB/TrEMBL
      A0A8L2R5W7, A6IIS0
      Conserved Domains (3) summary
      cd00060
      Location:24 → 98
      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:151 → 252
      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:271 → 327
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

    5. XM_006238029.5 → XP_006238091.1  aprataxin isoform X3

      See identical proteins and their annotated locations for XP_006238091.1

      UniProtKB/TrEMBL
      A0A8L2R5W7
      Conserved Domains (3) summary
      cd01278
      Location:92 → 193
      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:211 → 268
      zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
      pfam17913
      Location:2 → 41
      FHA_2; FHA domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K4H4.1 GenPept UniProtKB/Swiss-Prot:Q8K4H4

    Gene LinkOut

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