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Aptx aprataxin [ Mus musculus (house mouse) ]

Gene ID: 66408, updated on 8-May-2024

Summary

Official Symbol
Aptxprovided by MGI
Official Full Name
aprataxinprovided by MGI
Primary source
MGI:MGI:1913658
See related
Ensembl:ENSMUSG00000028411 AllianceGenome:MGI:1913658
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FHA-HIT; 2410016G21Rik
Summary
Enables DNA 5'-adenosine monophosphate hydrolase activity. Involved in single strand break repair. Acts upstream of or within DNA ligation. Predicted to be located in nucleolus and nucleoplasm. Predicted to be active in nucleus. Predicted to colocalize with chromatin. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. 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, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 10.3), CNS E14 (RPKM 4.2) and 26 other tissues See more
Orthologs
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Genomic context

See Aptx in Genome Data Viewer
Location:
4 A5; 4 20.46 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (40682078..40703206, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (40682078..40721667, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4933428C19 gene Neighboring gene transmembrane protein 215 Neighboring gene STARR-seq mESC enhancer starr_09986 Neighboring gene STARR-seq mESC enhancer starr_09987 Neighboring gene STARR-positive B cell enhancer ABC_E2688 Neighboring gene STARR-positive B cell enhancer ABC_E1272 Neighboring gene predicted gene 6297 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene microRNA 207

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (4)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding ISO
Inferred from Sequence Orthology
more info
 
enables damaged DNA binding ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding TAS
Traceable Author Statement
more info
PubMed 
enables mismatched DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphoglycolate phosphatase activity ISO
Inferred from Sequence Orthology
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
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA ligation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within DNA repair 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in single strand break repair ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of chromatin ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
aprataxin
Names
forkhead-associated domain histidine triad-like protein
NP_001020615.1
NP_001020616.1
NP_079821.3
XP_006538230.1
XP_006538231.1
XP_006538232.1
XP_006538233.1
XP_006538234.1
XP_011248386.1
XP_030109558.1
XP_030109559.1
XP_036020202.1
XP_036020204.1

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_001025444.3NP_001020615.1  aprataxin isoform b

    See identical proteins and their annotated locations for NP_001020615.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region and intiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK005286, AK010516, AL833775, AL929313
    Consensus CDS
    CCDS38712.1
    UniProtKB/TrEMBL
    Q6IR21
    Related
    ENSMUSP00000030119.4, ENSMUST00000030119.10
    Conserved Domains (3) summary
    cd01278
    Location:157258
    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:276333
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4100
    FHA_2; FHA domain
  2. NM_001025445.2NP_001020616.1  aprataxin isoform c

    See identical proteins and their annotated locations for NP_001020616.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform c, which has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AK010516, AL833775, AL929313
    UniProtKB/Swiss-Prot
    Q7TQC5
    Conserved Domains (3) summary
    cd01278
    Location:98199
    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:217274
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:241
    FHA_2; FHA domain
  3. NM_025545.4NP_079821.3  aprataxin isoform a

    See identical proteins and their annotated locations for NP_079821.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK077351, AL929313
    Consensus CDS
    CCDS38711.1
    UniProtKB/Swiss-Prot
    Q7TQC5, Q8BPA7, Q8C2B5, Q8K3D1, Q9CQ59
    UniProtKB/TrEMBL
    Q6IR21
    Related
    ENSMUSP00000124264.2, ENSMUST00000068125.11
    Conserved Domains (3) summary
    cd00060
    Location:12105
    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
    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:284340
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    40682078..40703206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164311.1XP_036020204.1  aprataxin isoform X3

    Conserved Domains (3) summary
    cd01278
    Location:98199
    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:217274
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:241
    FHA_2; FHA domain
  2. XM_030253699.2XP_030109559.1  aprataxin isoform X3

    Conserved Domains (3) summary
    cd01278
    Location:98199
    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:217274
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:241
    FHA_2; FHA domain
  3. XM_006538167.4XP_006538230.1  aprataxin isoform X2

    See identical proteins and their annotated locations for XP_006538230.1

    UniProtKB/TrEMBL
    Q6IR21
    Conserved Domains (3) summary
    cd01278
    Location:157258
    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:276333
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4100
    FHA_2; FHA domain
  4. XM_006538169.4XP_006538232.1  aprataxin isoform X2

    See identical proteins and their annotated locations for XP_006538232.1

    UniProtKB/TrEMBL
    Q6IR21
    Conserved Domains (3) summary
    cd01278
    Location:157258
    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:276333
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4100
    FHA_2; FHA domain
  5. XM_006538168.4XP_006538231.1  aprataxin isoform X2

    See identical proteins and their annotated locations for XP_006538231.1

    UniProtKB/TrEMBL
    Q6IR21
    Conserved Domains (3) summary
    cd01278
    Location:157258
    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:276333
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4100
    FHA_2; FHA domain
  6. XM_006538170.5XP_006538233.1  aprataxin isoform X2

    See identical proteins and their annotated locations for XP_006538233.1

    UniProtKB/TrEMBL
    Q6IR21
    Conserved Domains (3) summary
    cd01278
    Location:157258
    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:276333
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:4100
    FHA_2; FHA domain
  7. XM_011250084.3XP_011248386.1  aprataxin isoform X1

    UniProtKB/TrEMBL
    Q6IR21
    Conserved Domains (3) summary
    cd01278
    Location:162263
    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:281338
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:9105
    FHA_2; FHA domain
  8. XM_006538171.4XP_006538234.1  aprataxin isoform X3

    See identical proteins and their annotated locations for XP_006538234.1

    UniProtKB/Swiss-Prot
    Q7TQC5
    Conserved Domains (3) summary
    cd01278
    Location:98199
    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:217274
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:241
    FHA_2; FHA domain
  9. XM_030253698.2XP_030109558.1  aprataxin isoform X3

    Conserved Domains (3) summary
    cd01278
    Location:98199
    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:217274
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:241
    FHA_2; FHA domain
  10. XM_036164309.1XP_036020202.1  aprataxin isoform X3

    Conserved Domains (3) summary
    cd01278
    Location:98199
    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:217274
    zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger
    pfam17913
    Location:241
    FHA_2; FHA domain