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Aptx aprataxin [ Rattus norvegicus (Norway rat) ]

Gene ID: 259271, updated on 2-Nov-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, Nov 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

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

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

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