ConductScience.org, home

Gene · 54840

APTX: aprataxin

12 sourcesgene-search-2026-11-11-0.2.0

Download JSON
Cite this record

ConductScience Library. APTX: aprataxin. Genes, record 54840. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/54840

On this page

Gene

Symbol
APTX
HGNC
Name
aprataxin
HGNC
NCBI Gene ID
54840
NCBI Gene
HGNC ID
HGNC:15984
HGNC
Ensembl
ENSG00000137074
NCBI Gene
Aliases
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, FLJ20157
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q7Z2E3Aprataxin35611Ensembl, GeneID, HGNC

Source UniProt

Patents12

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026004568 A2026-01-1437736Q7Z2E3Espacenet
EP 4650780 A22025-11-1940787Q7Z2E3Espacenet
JP 2025517970 A2025-06-1240787Q7Z2E3Espacenet
JP 2025062604 A2025-04-145908Q7Z2E3Espacenet
US 11446398 B22022-09-205908Q7Z2E3Espacenet
JP 2022524081 A2022-04-27108879Q7Z2E3Espacenet
US 11078247 B22021-08-03674Q7Z2E3Espacenet
JP 2019054813 A2019-04-11218171Q7Z2E3Espacenet
JP 2017121241 A2017-07-13218171Q7Z2E3Espacenet
JP 2015516143 A2015-06-08218171Q7Z2E3Espacenet

1 to 10 of 12

See all 12 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants727

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleAPTX papersNewest fiscal year
P01CA092584Structural Cell Biology of DNA Repair Machines362025
ZIAAG000723ALZHEIMERS RESEARCH PROJECT: DNA repair dysfunction in neurodegeneration and Alzheimer's Disease112025
P30CA021765Cancer Center Support Grant (CCSG)102025
P01CA096832NORMAL & NEOPLASTIC GROWTH IN THE BRAIN92025
R01ES012512Roles of Lig3 and XRCC1 Genes in Genome Stability82025
ZIAES102765Structural Biology of Genome Maintenance and DNA repair72025
ZIAES065070Structure-Function Studies Of DNA Replication Fidelity52025
R35CA220430Mesoscale and Nanoscale Technologies Integrated by Structures for DNA Repair Complexes (MANTIS-DRC)42025
P30CA008748Cancer Center Support Grant32025
P30CA016672Cancer Center Support Grant32025

1 to 10 of 727Source NIH's project files

See all 727 nih grants

Papers1,316

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
APTX deficiency is associated with altered neuronal differentiation and alternative splicing in patient-derived neurons.Neurobiol Dis202642624379PubTator, text miningPubMed
Dissolved organic matter molecular composition links water chemistry, microbial functional potential, and nitrous oxide variability in a temperate estuary.Water Res202642546526PubTator, text miningPubMed
Spotted knapweed (Centaurea stoebe) invasion linked with disruption of soil nitrogen-cycling processes.J Environ Manage202642430987PubTator, text miningPubMed
Cell-type-specific genetic architecture reveals neuronal and immune contributions to neuropsychiatric disorders.Mol Psychiatry202642020718PubTator, text miningPubMed
Spatial and seasonal dynamics of nitrification pathways in sandy sediments along the Guangdong Coast, China.Mar Pollut Bull202641819688PubTator, text miningPubMed
Zinc finger proteins (ZFPs) in health and disease.Mol Biomed202641772312PubTator, text miningPubMed
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.Proc Natl Acad Sci U S A202641770933PubTator, text miningPubMed
Synergistic Cellular Toxicity from Inhibition of Poly(ADP-ribose) Glycohydrolase (PARG) and Ubiquitin-Specific Protease 1 (USP1).Toxics202641745836PubTator, text miningPubMed
Elevated temperature simulating heatwaves restructures active nitrifying communities and associated viruses in tidal flats and agricultural soils.ISME J202641714186PubTator, text miningPubMed
Plant-mediated niche differentiation promotes comammox-dominated nitrification in aquaponic rhizospheres.Sci Total Environ202641671814PubTator, text miningPubMed

1 to 10 of 1,316

See all 1,316 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/54840

GET https://conductscience.org/api/genes/v1/54840/patents