Aliases for APTX Gene
Aliases for APTX Gene
External Ids for APTX Gene
- HGNC: 15984
- Entrez Gene: 54840
- Ensembl: ENSG00000137074
- OMIM: 606350
- UniProtKB: Q7Z2E3
Previous HGNC Symbols for APTX Gene
- AXA1
Previous GeneCards Identifiers for APTX Gene
- GC09M033284
- GC09M033142
Summaries for APTX Gene
-
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]
GeneCards Summary for APTX Gene
APTX (Aprataxin) is a Protein Coding gene. Diseases associated with APTX include Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia and Aptx-Related Coenzyme Q10 Deficiency. Among its related pathways are DNA Damage. GO annotations related to this gene include chromatin binding and protein N-terminus binding. An important paralog of this gene is PNKP.
UniProtKB/Swiss-Prot for APTX Gene
-
DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. 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. Catalyzes the release of adenylate groups covalently linked to 5-phosphate termini, resulting in the production of 5-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APTX Gene
Genomics for APTX Gene
Regulatory Elements for APTX Gene
Enhancers for APTX Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH09G032999 | 1.1 | ENCODE | 38.1 | +23.7 | 23713 | 2.9 | PKNOX1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS | APTX DNAJA1 LAGE3P1 SMU1 TCEA1P4 |
| GH09G033023 | 1.1 | ENCODE | 25.3 | -0.3 | -312 | 4.2 | FOXA2 PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 | SMU1 APTX TOPORS ASS1P12 DDX58 DFFBP1 TCEA1P4 LAGE3P1 B4GALT1 DNAJA1 |
| GH09G033080 | 1.2 | Ensembl ENCODE | 22.8 | -56.8 | -56818 | 3.0 | PKNOX1 FOXA2 ATF1 ARID4B ZNF2 YY1 SLC30A9 ZNF143 DEK REST | APTX B4GALT1-AS1 B4GALT1 RNU4ATAC15P SPINK4 SMU1 |
| GH09G033043 | 1.1 | Ensembl ENCODE | 24.8 | -19.0 | -18961 | 2.3 | ZNF76 SIN3A RAD21 YY1 ZNF335 GLIS2 CREM ZNF263 ZHX2 GLIS1 | APTX SMU1 PIR52670 PIR42660 |
| GH09G033028 | 0.9 | ENCODE | 22.8 | -4.2 | -4165 | 1.6 | TBP FOXA2 ATF1 ARID4B THRB YY1 RARA CREM THAP11 PAF1 | APTX SMU1 LAGE3P1 RNU4ATAC15P DNAJA1 PIR42660 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around APTX on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the APTX gene promoter:
Regulatory Element Products
Genomic Location for APTX Gene
- Chromosome:
- 9
- Start:
- 32,972,606 bp from pter
- End:
- 33,025,168 bp from pter
- Size:
- 52,563 bases
- Orientation:
- Minus strand
Genomic View for APTX Gene
Genes around APTX on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p21.1 by Ensembl
- 9p21.1 by Entrez Gene
- 9p21.1 by HGNC
APTX Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for APTX Gene
Proteins for APTX Gene
-
Protein details for APTX Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z2E3-APTX_HUMAN
- Recommended name:
- Aprataxin
- Protein Accession:
- Q7Z2E3
- A8MTN4
- D3DRK9
- D3DRL0
- Q0P662
- Q5T781
- Q5T782
- Q5T784
- Q6JV81
- Q6JV82
- Q6JV85
- Q7Z2F3
- Q7Z336
- Q7Z5R5
- Q7Z6V7
- Q7Z6V8
- Q9NXM5
Protein attributes for APTX Gene
- Size:
- 356 amino acids
- Molecular mass:
- 40740 Da
- Quaternary structure:
-
- Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA-like domain) with MDC1 (phosphorylated).
Three dimensional structures from OCA and Proteopedia for APTX Gene
Protein Expression for APTX Gene
Post-translational modifications for APTX Gene
Other Protein References for APTX Gene
- ENSEMBL proteins:
-
- ENSP00000311547
- ENSP00000369140
- ENSP00000369145
- ENSP00000369147
- ENSP00000369153
- ENSP00000380357
- ENSP00000400806
- ENSP00000417634
- ENSP00000417649
- ENSP00000417684
- ENSP00000417750
- ENSP00000417804
- ENSP00000418069
- ENSP00000418144
- ENSP00000418311
- ENSP00000418733
- ENSP00000419020
- ENSP00000419042
- ENSP00000419289
- ENSP00000419430
- ENSP00000419597
- ENSP00000419623
- ENSP00000419723
- ENSP00000419846
- ENSP00000420071
- ENSP00000420263
- ENSP00000369141
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for APTX
- Cell Signaling Technology (CST) Antibodies for APTX (APTX)
- Novus Biologicals Antibodies for APTX
- Invitrogen Antibodies for APTX
- antibodies-online Antibodies for APTX: See all 46
- GeneTex APTX antibody for APTX
-
Santa Cruz Biotechnology (SCBT) Antibodies for APTX
Protein Products
-
OriGene Purified Proteins for APTX
- Search Origene for MassSpec and Protein Over-expression Lysates for APTX
- Origene Custom Protein Services for APTX
- ProSpec Recombinant Proteins for APTX
- antibodies-online Proteins for APTX: See all 27
- Search antibodies-online for peptides
- GeneTex Proteins for APTX
Assay Products
- antibodies-online Kits for APTX: See all 2
No data available for DME Specific Peptides for APTX Gene
Domains & Families for APTX Gene
Protein Domains for APTX Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for APTX Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q7Z2E3UniProtKB/Swiss-Prot:
APTX_HUMAN :- The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
- Domain:
-
- The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
- The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.
- The HIT domain is required for enzymatic activity.
- The C2H2-type zinc finger mediates DNA-binding.
No data available for Gene Families for APTX Gene
Function for APTX Gene
Molecular function for APTX Gene
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=18 uM for AppppA; KM=837.5 uM for AMP-NH(2);
- UniProtKB/Swiss-Prot Function:
- DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. 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. Catalyzes the release of adenylate groups covalently linked to 5-phosphate termini, resulting in the production of 5-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.
Enzyme Numbers (IUBMB) for APTX Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IDA | 15044383 |
| GO:0003684 | damaged DNA binding | IDA | 14755728 |
| GO:0003690 | double-stranded DNA binding | IDA | 16547001 |
| GO:0003725 | double-stranded RNA binding | IDA | 16547001 |
Phenotypes for APTX Gene
- MGI mutant phenotypes for APTX:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for APTX:
Animal Models for APTX Gene
- MGI Knock Outs for APTX:
-
- Aptx tm1Pmc
Animal Model Products
-
Taconic Biosciences Mouse Models for APTX
- Cyagen custom Knockout/knockin (KOKI) mouse models for APTX
-
CRISPR Products
-
OriGene CRISPR knockouts for APTX
-
Santa Cruz Biotechnology (SCBT) CRISPR for APTX
- GenScript: Design CRISPR guide RNA sequences for APTX
miRNA for APTX Gene
- miRTarBase miRNAs that target APTX
-
- hsa-mir-342-3p (MIRT043736)
- hsa-mir-7977 (MIRT631165)
- hsa-mir-24-3p (MIRT631166)
- hsa-mir-4284 (MIRT631167)
- hsa-mir-5693 (MIRT631168)
- hsa-mir-6783-3p (MIRT636945)
- hsa-mir-4279 (MIRT636946)
- hsa-mir-1343-3p (MIRT636947)
- hsa-mir-377-3p (MIRT636948)
- hsa-mir-23b-5p (MIRT636949)
- hsa-mir-23a-5p (MIRT636950)
- hsa-mir-6829-3p (MIRT636951)
- hsa-mir-6791-3p (MIRT636952)
- hsa-mir-2276-3p (MIRT636953)
- hsa-mir-1976 (MIRT636954)
- hsa-mir-3653-5p (MIRT636955)
- hsa-mir-1281 (MIRT636956)
- hsa-mir-6742-3p (MIRT636957)
- hsa-mir-6852-5p (MIRT636958)
- hsa-mir-939-3p (MIRT636959)
- hsa-mir-6747-3p (MIRT636960)
- hsa-mir-6727-3p (MIRT636961)
- hsa-mir-4722-3p (MIRT636962)
- hsa-mir-660-3p (MIRT636963)
- hsa-mir-4485-5p (MIRT636964)
- hsa-mir-1228-3p (MIRT636965)
- hsa-mir-6722-5p (MIRT676369)
- hsa-mir-6884-5p (MIRT676370)
- hsa-mir-485-5p (MIRT676371)
- hsa-mir-383-3p (MIRT676372)
- hsa-mir-4478 (MIRT676373)
- hsa-mir-4419b (MIRT676374)
- hsa-mir-3929 (MIRT676375)
miRNA Products
- Search ViGene Biosciences for APTX
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APTX
- Browse OriGene Inhibitory RNA Products For APTX
Clone Products
-
OriGene ORF clones in human for APTX
- RC231137L1
- RC231137
- RG231147
- RC231147L2
- RC231147L1
- RC231147
- RG232534
- RC232534
- RG231181
- RC231181L2
- RC231181L1
- RC231181
- RC231131
- RG231125
- RC231125L2
- RC231125L1
- RC231125
- RG231137
- RC231137L2
- RG220799
- RC220799L2
- RC220799L1
- RC220799
- RG224363
- RC224363L2
- RC224363L1
- RC224363
- RG224415
- RC224415L2
- RC224415L1
- RC224415
- RG222951
- RC222951L2
- RC222951L1
- RC222951
- RG231131
- RC231131L2
- RC231131L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for APTX
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APTX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APTX
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for APTX
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for APTX Gene
Localization for APTX Gene
Subcellular locations from UniProtKB/Swiss-Prot for APTX Gene
- Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization.
- Isoform 12: Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | IDA | 15044383 |
| GO:0000790 | colocalizes_with nuclear chromatin | IDA | 20008512 |
| GO:0005634 | nucleus | IDA | -- |
| GO:0005654 | nucleoplasm | IEA,IDA | 15044383 |
| GO:0005730 | nucleolus | IEA,IDA | 15044383 |
Pathways & Interactions for APTX Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Damage | ||
Pathways by source for APTX Gene
1 Cell Signaling Technology pathway for APTX Gene
Interacting Proteins for APTX Gene
Selected Interacting proteins:
ENSP00000369141
Q7Z2E3-APTX_HUMAN
for APTX Gene via
STRING
UniProtKB
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000012 | single strand break repair | IDA | 17519253 |
| GO:0006266 | DNA ligation | IEA | -- |
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IMP | 15044383 |
| GO:0016311 | dephosphorylation | IEA | -- |
Transcripts for APTX Gene
mRNA/cDNA for APTX Gene
- (22) REFSEQ mRNAs :
- (43) Additional mRNA sequences :
- (281) Selected AceView cDNA sequences:
- (33) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for APTX Gene
- Aprataxin:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for APTX
-
Santa Cruz Biotechnology (SCBT) CRISPR for APTX
- GenScript: Design CRISPR guide RNA sequences for APTX
miRNA Products
- Search ViGene Biosciences for APTX
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for APTX
- Browse OriGene Inhibitory RNA Products For APTX
Clone Products
-
OriGene ORF clones in human for APTX
- RC231137L1
- RC231137
- RG231147
- RC231147L2
- RC231147L1
- RC231147
- RG232534
- RC232534
- RG231181
- RC231181L2
- RC231181L1
- RC231181
- RC231131
- RG231125
- RC231125L2
- RC231125L1
- RC231125
- RG231137
- RC231137L2
- RG220799
- RC220799L2
- RC220799L1
- RC220799
- RG224363
- RC224363L2
- RC224363L1
- RC224363
- RG224415
- RC224415L2
- RC224415L1
- RC224415
- RG222951
- RC222951L2
- RC222951L1
- RC222951
- RG231131
- RC231131L2
- RC231131L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for APTX
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for APTX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APTX
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
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| SP34: | - | - |
| ExUns: | 10c | · | 10d | · | 10e | ^ | 11 | ^ | 12a | · | 12b |
|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP34: |
Expression for APTX Gene
This gene is overexpressed in Pancreas (12.5), Spleen (12.2), Testis (10.9), Lung (8.6), and Blymphocyte (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APTX Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of APTX Gene:
APTXSOURCE GeneReport for Unigene cluster for APTX Gene:
Hs.20158mRNA Expression by UniProt/SwissProt for APTX Gene:
Q7Z2E3-APTX_HUMAN
Tissue specificity:
Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2.
Evidence on tissue expression from TISSUES for APTX Gene
- Nervous system(4.8)
- Lung(4.3)
- Intestine(4.2)
- Liver(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for APTX Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- forehead
- head
Thorax:
- heart
- lung
- rib
- rib cage
Abdomen:
- duodenum
- intestine
- liver
- small intestine
Pelvis:
- pelvis
Limb:
- foot
- hand
- lower limb
- upper limb
General:
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for APTX
-
OriGene qPCR primer pairs and template standards for APTX
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for APTX Gene
Orthologs for APTX Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APTX 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | APTX 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | APTX 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Aptx 16 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aptx 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | APTX 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | APTX 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | APTX 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | APTX 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aptx 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398657 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aptx 35 34 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6392 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5316 35 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HNT3 35 37 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for APTX was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for APTX Gene
(1) SIMAP similar genes for APTX Gene using alignment to 10 proteins:
Variants for APTX Gene
| SNP ID | Clin | Chr 09 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121908131 | Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] | 32,984,784(-) | CTTAC(C/T)GTGGA | intron-variant, nc-transcript-variant, reference, missense | |
| rs121908132 | Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] | 32,974,544(-) | TCATG(G/T)GATCA | intron-variant, nc-transcript-variant, reference, missense | |
| rs121908133 | Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] | 32,984,799(-) | TTACC(A/G)TTGGC | intron-variant, nc-transcript-variant, reference, missense | |
| rs150886026 | Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] | 32,984,805(+) | GGTAA(C/T)GGGCC | intron-variant, nc-transcript-variant, reference, missense | |
| rs267606665 | Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] | 32,984,733(-) | TGAAC(C/T)CCTTA | intron-variant, nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2670354 | CNV | deletion | 23128226 |
| esv3620303 | CNV | gain | 21293372 |
| esv3620313 | CNV | loss | 21293372 |
| nsv1025585 | CNV | gain | 25217958 |
| nsv438101 | CNV | loss | 16468122 |
| nsv614143 | CNV | gain | 21841781 |
| nsv6522 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.99;
36.69% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for APTX Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APTX Gene
Disorders for APTX Gene
(18) MalaCards diseases for APTX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
|
|
| aptx-related coenzyme q10 deficiency |
|
|
| apraxia |
|
|
| ocular motor apraxia |
|
|
| analbuminemia |
|
Search APTX in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
APTX_HUMAN- Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. {ECO:0000269 PubMed:11586299, ECO:0000269 PubMed:11586300, ECO:0000269 PubMed:12196655, ECO:0000269 PubMed:12629250, ECO:0000269 PubMed:14506070, ECO:0000269 PubMed:15699391, ECO:0000269 PubMed:15852392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for APTX
No data available for Genatlas for APTX Gene
Publications for APTX Gene
- Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. (PMID: 11586299) Date H. … Tsuji S. (Nat. Genet. 2001) 2 3 4 22 64
- The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn- finger protein aprataxin. (PMID: 11586300) Moreira M.-C. … Koenig M. (Nat. Genet. 2001) 2 3 4 22 64
- CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. (PMID: 20008512) Becherel O.J. … Lavin M.F. (Nucleic Acids Res. 2010) 3 4 22 64
- Actions of aprataxin in multiple DNA repair pathways. (PMID: 17276982) Rass U. … West S.C. (J. Biol. Chem. 2007) 3 4 22 64
- Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. (PMID: 16547001) Kijas A.W. … Lavin M.F. (J. Biol. Chem. 2006) 3 4 22 64
Products for APTX Gene
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- OriGene qPCR primer pairs and template standards for APTX
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- OriGene ORF clones in human for APTX
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- Novus Biologicals Antibodies for APTX
- Novus Biologicals proteins and lysates for APTX
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for APTX
- Taconic Biosciences Mouse Models for APTX
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for APTX: See all 46
- antibodies-online Kits for APTX: See all 2
- antibodies-online Proteins for APTX: See all 27
- Search antibodies-online for peptides
- GeneTex APTX antibody for APTX
- GeneTex Proteins for APTX
- Search ViGene Biosciences for APTX
- Santa Cruz Biotechnology (SCBT) Antibodies for APTX
- Search Santa Cruz Biotechnology (SCBT) for APTX siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for APTX
- Horizon Cell Lines for APTX
- Cyagen custom Knockout/knockin (KOKI) mouse models for APTX
- VectorBuilder custom plasmid, inducible vectors for APTX
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APTX
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for APTX Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer