Aptx aprataxin [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction with phosphorylated XRCC1 is a requirement for significant APTX recruitment to cellular DNA damage and enzymatic activity in cell extracts.
Title: XRCC1 phosphorylation affects aprataxin recruitment and DNA deadenylation activity.
Study demonstrates a protective role of Aptx in vivo and suggests that its loss results in progressive accumulation of DNA breaks in the nervous system, triggering hallmarks of premature ageing, systemically.
Title: Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing.
aprataxin participates in chromosomal single-strand break repair
Title: Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1.
neurological disorders associated with APTX mutations may be caused by the gradual accumulation of unrepaired DNA strand breaks resulting from abortive DNA ligation events
Title: The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: aprataxin

Names: forkhead-associated domain histidine triad-like protein

NP_001020615.1

EC 3.6.1.71

EC 3.6.1.72

NP_001020616.1

EC 3.6.1.71

EC 3.6.1.72

NP_079821.3

EC 3.6.1.71

EC 3.6.1.72

XP_006538230.1

EC 3.6.1.71

EC 3.6.1.72

XP_006538231.1

EC 3.6.1.71

EC 3.6.1.72

XP_006538232.1

EC 3.6.1.71

EC 3.6.1.72

XP_006538233.1

EC 3.6.1.71

EC 3.6.1.72

XP_006538234.1

EC 3.6.1.71

EC 3.6.1.72

XP_011248386.1

EC 3.6.1.71

EC 3.6.1.72

XP_030109558.1

EC 3.6.1.71

EC 3.6.1.72

XP_030109559.1

EC 3.6.1.71

EC 3.6.1.72

XP_036020202.1

EC 3.6.1.71

EC 3.6.1.72

XP_036020204.1

EC 3.6.1.71

EC 3.6.1.72

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)

NM_001025444.3 → NP_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:157 → 258

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:276 → 333

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:4 → 100

FHA_2; FHA domain
NM_001025445.2 → NP_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:98 → 199

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:217 → 274

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:2 → 41

FHA_2; FHA domain
NM_025545.4 → NP_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:12 → 105

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:164 → 265

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:284 → 340

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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

40682078..40703206 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164311.1 → XP_036020204.1 aprataxin isoform X3

Conserved Domains (3) summary

cd01278
Location:98 → 199

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:217 → 274

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:2 → 41

FHA_2; FHA domain
XM_030253699.2 → XP_030109559.1 aprataxin isoform X3

Conserved Domains (3) summary

cd01278
Location:98 → 199

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:217 → 274

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:2 → 41

FHA_2; FHA domain
XM_006538167.4 → XP_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:157 → 258

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:276 → 333

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:4 → 100

FHA_2; FHA domain
XM_006538169.4 → XP_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:157 → 258

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:276 → 333

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:4 → 100

FHA_2; FHA domain
XM_006538168.4 → XP_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:157 → 258

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:276 → 333

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:4 → 100

FHA_2; FHA domain
XM_006538170.5 → XP_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:157 → 258

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:276 → 333

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:4 → 100

FHA_2; FHA domain
XM_011250084.3 → XP_011248386.1 aprataxin isoform X1

UniProtKB/TrEMBL

Q6IR21

Conserved Domains (3) summary

cd01278
Location:162 → 263

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:281 → 338

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:9 → 105

FHA_2; FHA domain
XM_006538171.4 → XP_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:98 → 199

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:217 → 274

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:2 → 41

FHA_2; FHA domain
XM_030253698.2 → XP_030109558.1 aprataxin isoform X3

Conserved Domains (3) summary

cd01278
Location:98 → 199

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:217 → 274

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:2 → 41

FHA_2; FHA domain
XM_036164309.1 → XP_036020202.1 aprataxin isoform X3

Conserved Domains (3) summary

cd01278
Location:98 → 199

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:217 → 274

zf-C2HE; C2HE / C2H2 / C2HC zinc-binding finger

pfam17913
Location:2 → 41

FHA_2; FHA domain