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Aptx aprataxin [ Mus caroli (Ryukyu mouse) ]

Gene ID: 110292499, updated on 15-Mar-2024

Summary

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Gene symbol
Aptx
Gene description
aprataxin
See related
Ensembl:MGP_CAROLIEiJ_G0025897
Gene type
protein coding
RefSeq status
MODEL
Organism
Mus caroli
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Orthologs
human mouse all
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Genomic context

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See Aptx in Genome Data Viewer
Location:
chromosome: 4
Exon count:
11
Annotation release Status Assembly Chr Location
101 current CAROLI_EIJ_v1.1 (GCF_900094665.1) 4 NC_034573.1 (34781237..34799753, complement)

Chromosome 4 - NC_034573.1Genomic Context describing neighboring genes Neighboring gene transmembrane protein 215 Neighboring gene DNA-(apurinic or apyrimidinic site) lyase pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene SMU1 DNA replication regulator and spliceosomal factor

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_034573.1 Chromosome 4 Reference CAROLI_EIJ_v1.1 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables DNA 5'-adenosine monophosphate hydrolase activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables double-stranded RNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables protein binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables single-strand break-containing DNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables single-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in double-strand break repair IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in single strand break repair IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
aprataxin

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Mus caroli Annotation Release 101 details...Open this link in a new tab

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

Reference CAROLI_EIJ_v1.1 Primary Assembly

Genomic

  1. NC_034573.1 Reference CAROLI_EIJ_v1.1 Primary Assembly

    Range
    34781237..34799753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021159809.2 → XP_021015468.1  aprataxin isoform X2

    UniProtKB/TrEMBL
    A0A6P5PL16
    Conserved Domains (3) summary
    cd01278
    Location:62 → 163
    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:181 → 238
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4 → 94
    FHA_2; FHA domain

  2. XM_029476623.1 → XP_029332483.1  aprataxin isoform X2

    UniProtKB/TrEMBL
    A0A6P5PL16
    Conserved Domains (3) summary
    cd01278
    Location:62 → 163
    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:181 → 238
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4 → 94
    FHA_2; FHA domain

  3. XM_029476624.1 → XP_029332484.1  aprataxin isoform X2

    UniProtKB/TrEMBL
    A0A6P5PL16
    Related
    MGP_CAROLIEiJ_P0061789, MGP_CAROLIEiJ_T0061789.1
    Conserved Domains (3) summary
    cd01278
    Location:62 → 163
    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:181 → 238
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4 → 94
    FHA_2; FHA domain

  4. XM_029476625.1 → XP_029332485.1  aprataxin isoform X2

    UniProtKB/TrEMBL
    A0A6P5PL16
    Conserved Domains (3) summary
    cd01278
    Location:62 → 163
    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:181 → 238
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4 → 94
    FHA_2; FHA domain

  5. XM_029476622.1 → XP_029332482.1  aprataxin isoform X1

    UniProtKB/TrEMBL
    A0A6P7QVY6
Nucleotide Protein
Heading Accession and Version

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