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Aprataxin Antibodies
AND APTX ELISA kits, Aprataxin Proteins
Many biological assays use antibodies to detect Aprataxin, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with Aprataxin in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop Aprataxin antibodies...
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APTX Overview
Facts about Aprataxin.
Aprataxin (APTX)
DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567).
Catalyzes the launch of adenylate groups covalently linked to 5'-phosphate termini, leading to the production of 5'-phosphate termini which can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with reduced catalytic activity (PubMed:16547001).
Gene Information
| Human | |
|---|---|
| Gene Name: | APTX |
| Uniprot: | Q7Z2E3 |
| Entrez: | 54840 |
Family
| Belongs to: |
|---|
| No superfamily |
Alternative Names
AOA1EAOH; AOAMGC1072; aprataxin; ataxia 1, early onset with hypoalbuminemia; AXA1; EC 3.-; EOAHA; FHA-HIT; FLJ20157; Forkhead-associated domain histidine triad-like protein
Molecular Weight
Mass (kDA):
40.74 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 9p21.1 |
| Sequence: | 9; NC_000009.12 (32883872..33025120, complement) |
Tissue Specificity
Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300).
Subcellular Localizations
Nucleus, nucleoplasm. Nucleus, nucleolus. Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage (PubMed:15380105). Colocalizes with MDC1 at sites of DNA double-strand breaks (PubMed:20008512). Interaction with NCL is required for nucleolar localization (PubMed:16777843).; [Isoform 12]: Cytoplasm.
Diseases
- Ataxia
- Apraxias
- Oculomotor Apraxia
- Cerebellar Ataxia
- Motor Apraxia
- Neurodegenerative Disorders
- Ataxia Telangiectasia
- Nervous System Disorder
- Atrophy
- Oculomotor Nerve Paralysis
- Peripheral Neuropathy
- Ataxia, Spinocerebellar
Interacting Proteins
- PARP1
- PNMA1
- XRCC1
- XRCC4
Pathways
- Dna Repair
- Dna Ligation
- Pathogenesis
- Cell Death
- Localization
- Transport
- Hypersensitivity
- Double-strand Break Repair
- Nuclear Import
- Single Strand Break Repair
- Aging
- Dna Replication
- Excretion
PTMs
- Phosphorylation
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/APTX
bosterbio.com/bosterbio-gene-info-cards/APTX
References
PMID: 15276230 by Hirano M., et al. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
PMID: 11586299 by Date H., et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.