APTX Gene Summary [Human]
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | APTX |
| Official Name | aprataxin [Source:HGNC Symbol;Acc:HGNC:15984] |
| Ensembl ID | ENSG00000137074 |
| Bio databases IDs | |
| Aliases | aprataxin |
| Synonyms | 2410016G21Rik, AOA, AOA1, APRATAXIN, AXA1, EAOH, EOAHA, FHA-HIT |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APTX often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 5'-3' exonuclease
- phosphoglycolate phosphatase
- metal ion binding
- phosphoprotein binding
- polynucleotide 3'-phosphatase
- chromatin binding
- protein binding
- Scavenger mRNA decapping enzyme C-term binding
- forkhead associated (FHA) domain superfamily
- 5' phosphomonoester producing exodeoxyribonuclease
- damaged DNA binding
- FHA domain
- double-stranded DNA binding
- double-stranded RNA binding
- phosphatase
- zinc finger domain
- C2HE / C2H2 / C2HC zinc-binding finger
- HIT_like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- ataxia with oculomotor apraxia
- ataxia with ocular apraxia 1
- adult-onset ataxia with oculomotor apraxia
- preeclampsia
- hereditary disorder
- schizophrenia
- epilepsy
- amyotrophic lateral sclerosis
role in cell
- phosphorylation in
- expression in
- dysfunction
- dysfunction in
- damage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Mitochondria
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APTX gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- single strand break repair
- regulation of protein stability
- DNA ligation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphoglycolate phosphatase activity
- protein binding
- metal ion binding
- double-stranded RNA binding
- double-stranded DNA binding
- phosphoprotein binding
- chromatin binding
- mismatched DNA binding
- damaged DNA binding
- DNA 5'-adenosine monophosphate hydrolase activity
- single-stranded DNA binding