UniProtKB - Q7Z2E3 (APTX_HUMAN)
Aprataxin
APTX
Functioni
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 release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567).
Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001).
Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity).
By similarity6 PublicationsCatalytic activityi
- a 5'-end adenosine-5'-diphospho-5'-(2'-deoxyribonucleoside)-DNA + H2O = a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + AMP + 2 H+1 Publication3 PublicationsEC:3.6.1.711 Publication3 Publications
- a 5'-end adenosine-5'-diphospho-5'-ribonucleoside-2'-deoxyribonucleotide-DNA + H2O = a 5'-end 5'-monophospho-ribonucleoside-2'-deoxyribonucleotide-DNA + AMP + 2 H+1 Publication3 PublicationsEC:3.6.1.711 Publication3 Publications
- a 3'-end 2'-deoxyribonucleotide-3'-diphospho-5'-guanosine-DNA + H2O = a 3'-end 2'-deoxyribonucleotide 3'-phosphate-DNA + GMP + 2 H+By similarityEC:3.6.1.72By similarity
Kineticsi
- KM=18 µM for AppppA1 Publication
- KM=837.5 µM for AMP-NH21 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 274 | Tele-AMP-histidine intermediate1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 331 – 353 | C2H2-typePROSITE-ProRule annotation2 PublicationsAdd BLAST | 23 |
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- damaged DNA binding Source: UniProtKB
- DNA-3'-diphospho-5'-guanosine diphosphatase Source: UniProtKB-EC
- DNA 5'-adenosine monophosphate hydrolase activity Source: UniProtKB
- double-stranded DNA binding Source: UniProtKB
- double-stranded RNA binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- mismatched DNA binding Source: GO_Central
- phosphoglycolate phosphatase activity Source: UniProtKB
- phosphoprotein binding Source: UniProtKB
- polynucleotide 3'-phosphatase activity Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
- single-strand break-containing DNA binding Source: GO_Central
- single-stranded DNA binding Source: GO_Central
GO - Biological processi
- cellular response to DNA damage stimulus Source: UniProtKB
- DNA ligation Source: Ensembl
- double-strand break repair Source: UniProtKB
- regulation of protein stability Source: UniProtKB
- response to hydrogen peroxide Source: UniProtKB
- single strand break repair Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 3.1.11.7, 2681 3.6.1.70, 2681 3.6.1.71, 2681 3.6.1.72, 2681 |
PathwayCommonsi | Q7Z2E3 |
SABIO-RKi | Q7Z2E3 |
SignaLinki | Q7Z2E3 |
SIGNORi | Q7Z2E3 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:APTX Synonyms:AXA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15984, APTX |
MIMi | 606350, gene |
neXtProti | NX_Q7Z2E3 |
VEuPathDBi | HostDB:ENSG00000137074 |
Subcellular locationi
Nucleus
- nucleoplasm 4 Publications
- nucleolus 2 Publications
Note: 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).3 Publications
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Nucleus
- nucleolus Source: UniProtKB
- nucleoplasm Source: UniProtKB
- nucleus Source: GO_Central
Other locations
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Ataxia-oculomotor apraxia syndrome (AOA)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018794 | 211 | K → Q in AOA; impairs binding to adenosine-5'-diphospho-5'-(DNA) and deadenylation activity. 2 Publications | 1 | |
Natural variantiVAR_018795 | 212 | A → V in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs748165574Ensembl. | 1 | |
Natural variantiVAR_018796 | 213 | R → H in AOA. 1 PublicationCorresponds to variant dbSNP:rs150886026Ensembl. | 1 | |
Natural variantiVAR_018797 | 215 | H → R in AOA. 1 PublicationCorresponds to variant dbSNP:rs121908133Ensembl. | 1 | |
Natural variantiVAR_018798 | 220 | P → L in AOA. 2 PublicationsCorresponds to variant dbSNP:rs121908131Ensembl. | 1 | |
Natural variantiVAR_025365 | 237 | L → P in AOA. 1 PublicationCorresponds to variant dbSNP:rs267606665Ensembl. | 1 | |
Natural variantiVAR_018799 | 277 | V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant dbSNP:rs121908132Ensembl. | 1 | |
Natural variantiVAR_018800 | 281 | D → G in AOA; heterozygous. | 1 | |
Natural variantiVAR_018801 | 293 | W → R in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs773393618Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 43 | R → A: Impairs interaction with XRCC1 and XRCC4. Abolishes localization at sites of DNA double-strand breaks. Loss of interaction with MDC1. 2 Publications | 1 | |
Mutagenesisi | 52 | K → A: Impairs interaction with MDC1 and localization at sites of DNA double-strand breaks. 1 Publication | 1 | |
Mutagenesisi | 274 | H → A: Abolishes enzyme activity. 2 Publications | 1 | |
Mutagenesisi | 333 | C → A: Abolishes DNA-binding and enzyme activity; when associated with A-336. 1 Publication | 1 | |
Mutagenesisi | 336 | C → A: Abolishes DNA-binding and enzyme activity; when associated with A-333. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 54840 |
GeneReviewsi | APTX |
MalaCardsi | APTX |
MIMi | 208920, phenotype |
OpenTargetsi | ENSG00000137074 |
Orphaneti | 1168, Ataxia-oculomotor apraxia type 1 |
PharmGKBi | PA24915 |
Miscellaneous databases
Pharosi | Q7Z2E3, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4523362 |
Genetic variation databases
BioMutai | APTX |
DMDMi | 48428038 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000109838 | 1 – 356 | AprataxinAdd BLAST | 356 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 132 | PhosphoserineCombined sources | 1 | |
Modified residuei | 137 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q7Z2E3 |
jPOSTi | Q7Z2E3 |
MassIVEi | Q7Z2E3 |
MaxQBi | Q7Z2E3 |
PaxDbi | Q7Z2E3 |
PeptideAtlasi | Q7Z2E3 |
PRIDEi | Q7Z2E3 |
ProteomicsDBi | 66521 66522 68945 [Q7Z2E3-1] 68946 [Q7Z2E3-10] 68947 [Q7Z2E3-11] 68948 [Q7Z2E3-2] 68949 [Q7Z2E3-3] 68950 [Q7Z2E3-4] 68951 [Q7Z2E3-5] 68952 [Q7Z2E3-6] 68953 [Q7Z2E3-7] 68954 [Q7Z2E3-8] 68955 [Q7Z2E3-9] |
TopDownProteomicsi | Q7Z2E3-5 [Q7Z2E3-5] |
PTM databases
GlyGeni | Q7Z2E3, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q7Z2E3 |
PhosphoSitePlusi | Q7Z2E3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000137074, Expressed in testis and 223 other tissues |
ExpressionAtlasi | Q7Z2E3, baseline and differential |
Genevisiblei | Q7Z2E3, HS |
Organism-specific databases
HPAi | ENSG00000137074, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT/PARP1 and p53/TP53 (PubMed:14755728, PubMed:15380105, PubMed:15044383, PubMed:16777843).
Interacts with NCL (PubMed:15044383, PubMed:16777843).
Interacts (via FHA-like domain) with MDC1 (phosphorylated) (PubMed:20008512).
5 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 188 | Interaction with DNA substrate1 Publication | 1 | |
Sitei | 265 | Interaction with DNA substrate1 Publication | 1 | |
Sitei | 276 | Interaction with DNA substrate1 Publication | 1 | |
Sitei | 291 | Interaction with DNA substrate1 Publication | 1 |
Binary interactionsi
Q7Z2E3
With | #Exp. | IntAct |
---|---|---|
PARP1 [P09874] | 8 | EBI-847814,EBI-355676 |
PNMA1 [Q8ND90] | 3 | EBI-847814,EBI-302345 |
XRCC1 [P18887] | 11 | EBI-847814,EBI-947466 |
XRCC4 [Q13426] | 3 | EBI-847814,EBI-717592 |
Isoform 7 [Q7Z2E3-7]
With | #Exp. | IntAct |
---|---|---|
FLAD1 - isoform 2 [Q8NFF5-2] | 3 | EBI-12298187,EBI-11526128 |
PNMA1 [Q8ND90] | 3 | EBI-12298187,EBI-302345 |
PNMA3 [Q9UL41] | 3 | EBI-12298187,EBI-11278955 |
GO - Molecular functioni
- phosphoprotein binding Source: UniProtKB
- protein N-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120191, 76 interactors |
IntActi | Q7Z2E3, 29 interactors |
MINTi | Q7Z2E3 |
STRINGi | 9606.ENSP00000400806 |
Miscellaneous databases
RNActi | Q7Z2E3, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q7Z2E3 |
BMRBi | Q7Z2E3 |
SMRi | Q7Z2E3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q7Z2E3 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 38 – 87 | FHA-likeAdd BLAST | 50 | |
Domaini | 182 – 287 | HITPROSITE-ProRule annotationAdd BLAST | 106 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 110 | Interactions with ADPRT/PARP1 and NCLAdd BLAST | 110 | |
Regioni | 122 – 167 | DisorderedSequence analysisAdd BLAST | 46 | |
Regioni | 207 – 211 | Interaction with DNA substrate1 Publication | 5 | |
Regioni | 269 – 270 | Interaction with DNA substrate1 Publication | 2 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 126 – 131 | Nuclear localization signalCurated | 6 | |
Motifi | 272 – 276 | Histidine triad motifPROSITE-ProRule annotation1 Publication | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 122 – 143 | Basic and acidic residuesSequence analysisAdd BLAST | 22 |
Domaini
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 331 – 353 | C2H2-typePROSITE-ProRule annotation2 PublicationsAdd BLAST | 23 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG0562, Eukaryota KOG2134, Eukaryota |
GeneTreei | ENSGT00940000156806 |
HOGENOMi | CLU_066882_2_1_1 |
InParanoidi | Q7Z2E3 |
OMAi | PLCWLIS |
OrthoDBi | 297700at2759 |
PhylomeDBi | Q7Z2E3 |
TreeFami | TF313308 |
Family and domain databases
CDDi | cd00060, FHA, 1 hit |
Gene3Di | 3.30.428.10, 1 hit |
InterProi | View protein in InterPro IPR026963, Aprataxin-like IPR041388, FHA_2 IPR000253, FHA_dom IPR019808, Histidine_triad_CS IPR011146, HIT-like IPR036265, HIT-like_sf IPR008984, SMAD_FHA_dom_sf IPR032566, Znf-C2HE IPR013087, Znf_C2H2_type |
PANTHERi | PTHR12486:SF4, PTHR12486:SF4, 2 hits |
Pfami | View protein in Pfam PF17913, FHA_2, 1 hit PF16278, zf-C2HE, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit SSF54197, SSF54197, 1 hit |
PROSITEi | View protein in PROSITE PS00892, HIT_1, 1 hit PS51084, HIT_2, 1 hit PS00028, ZINC_FINGER_C2H2_1, 1 hit |
s (13+)i Sequence
Sequence statusi: Complete.
This entry describes 13 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 13 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT
60 70 80 90 100
DKKCSRQQVQ LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV
110 120 130 140 150
LHMVNELYPY IVEFEEEAKN PGLETHRKRK RSGNSDSIER DAAQEAEAGT
160 170 180 190 200
GLEPGSNSGQ CSVPLKKGKD APIKKESLGH WSQGLKISMQ DPKMQVYKDE
210 220 230 240 250
QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH MHTVGEKVIV
260 270 280 290 300
DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY
310 320 330 340 350
FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL
RKHWTQ
The sequence of this isoform differs from the canonical sequence as follows:
59-112: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E
The sequence of this isoform differs from the canonical sequence as follows:
1-14: Missing.
60-63: QLKA → ESRV
64-356: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-14: Missing.
196-356: VYKDEQVVVI...KEHLRKHWTQ → PCTSSCDQPGF
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J8U3 | C9J8U3_HUMAN | Aprataxin | APTX | 303 | Annotation score: | ||
A0A0A0MRW7 | A0A0A0MRW7_HUMAN | Aprataxin | APTX | 336 | Annotation score: | ||
A0A5K1VW64 | A0A5K1VW64_HUMAN | Aprataxin | APTX | 270 | Annotation score: | ||
A0A5F9ZGW5 | A0A5F9ZGW5_HUMAN | Aprataxin | APTX | 138 | Annotation score: | ||
A0A5F9ZI51 | A0A5F9ZI51_HUMAN | Aprataxin | APTX | 104 | Annotation score: | ||
F8WBD6 | F8WBD6_HUMAN | Aprataxin | APTX | 52 | Annotation score: | ||
F8WBM3 | F8WBM3_HUMAN | Aprataxin | APTX | 68 | Annotation score: | ||
Q6JV79 | Q6JV79_HUMAN | Aprataxin | APTX | 85 | Annotation score: | ||
A0A5K1VW80 | A0A5K1VW80_HUMAN | Aprataxin | APTX | 60 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018794 | 211 | K → Q in AOA; impairs binding to adenosine-5'-diphospho-5'-(DNA) and deadenylation activity. 2 Publications | 1 | |
Natural variantiVAR_018795 | 212 | A → V in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs748165574Ensembl. | 1 | |
Natural variantiVAR_018796 | 213 | R → H in AOA. 1 PublicationCorresponds to variant dbSNP:rs150886026Ensembl. | 1 | |
Natural variantiVAR_018797 | 215 | H → R in AOA. 1 PublicationCorresponds to variant dbSNP:rs121908133Ensembl. | 1 | |
Natural variantiVAR_018798 | 220 | P → L in AOA. 2 PublicationsCorresponds to variant dbSNP:rs121908131Ensembl. | 1 | |
Natural variantiVAR_025365 | 237 | L → P in AOA. 1 PublicationCorresponds to variant dbSNP:rs267606665Ensembl. | 1 | |
Natural variantiVAR_018799 | 277 | V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant dbSNP:rs121908132Ensembl. | 1 | |
Natural variantiVAR_018800 | 281 | D → G in AOA; heterozygous. | 1 | |
Natural variantiVAR_018801 | 293 | W → R in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs773393618Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010534 | 1 – 193 | Missing in isoform 6. 1 PublicationAdd BLAST | 193 | |
Alternative sequenceiVSP_010535 | 1 – 188 | Missing in isoform 2. 4 PublicationsAdd BLAST | 188 | |
Alternative sequenceiVSP_010536 | 1 – 102 | Missing in isoform 4. 3 PublicationsAdd BLAST | 102 | |
Alternative sequenceiVSP_010537 | 1 – 14 | Missing in isoform 5, isoform 7, isoform 9, isoform 12 and isoform 13. 5 PublicationsAdd BLAST | 14 | |
Alternative sequenceiVSP_010538 | 59 – 112 | Missing in isoform 5 and isoform 10. 2 PublicationsAdd BLAST | 54 | |
Alternative sequenceiVSP_044091 | 60 – 63 | QLKA → ESRV in isoform 12. 1 Publication | 4 | |
Alternative sequenceiVSP_044092 | 64 – 356 | Missing in isoform 12. 1 PublicationAdd BLAST | 293 | |
Alternative sequenceiVSP_010539 | 104 – 175 | Missing in isoform 3. 1 PublicationAdd BLAST | 72 | |
Alternative sequenceiVSP_010540 | 175 – 193 | Missing in isoform 8. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_044093 | 196 – 356 | VYKDE…KHWTQ → PCTSSCDQPGF in isoform 13. 1 PublicationAdd BLAST | 161 | |
Alternative sequenceiVSP_010541 | 306 – 356 | AVIEM…KHWTQ → E in isoform 6, isoform 9 and isoform 11. 3 PublicationsAdd BLAST | 51 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3KT9 | X-ray | 1.65 | A | 15-116 | [»] | |
4NDF | X-ray | 1.94 | A/B | 179-356 | [»] | |
4NDG | X-ray | 2.54 | A/B | 179-356 | [»] | |
4NDH | X-ray | 1.85 | A/B | 179-356 | [»] | |
4NDI | X-ray | 1.90 | A/B | 179-356 | [»] | |
6CVO | X-ray | 2.40 | A/B | 179-356 | [»] | |
6CVP | X-ray | 2.00 | A/B | 179-356 | [»] | |
6CVQ | X-ray | 1.65 | A/B | 179-354 | [»] | |
6CVR | X-ray | 1.88 | A/B | 179-356 | [»] | |
6CVS | X-ray | 2.11 | A/B | 179-356 | [»] | |
6CVT | X-ray | 2.94 | A/B | 179-356 | [»] | |
AlphaFoldDBi | Q7Z2E3 | |||||
BMRBi | Q7Z2E3 | |||||
SMRi | Q7Z2E3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120191, 76 interactors |
IntActi | Q7Z2E3, 29 interactors |
MINTi | Q7Z2E3 |
STRINGi | 9606.ENSP00000400806 |
Chemistry databases
ChEMBLi | CHEMBL4523362 |
PTM databases
GlyGeni | Q7Z2E3, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q7Z2E3 |
PhosphoSitePlusi | Q7Z2E3 |
Genetic variation databases
BioMutai | APTX |
DMDMi | 48428038 |
Proteomic databases
EPDi | Q7Z2E3 |
jPOSTi | Q7Z2E3 |
MassIVEi | Q7Z2E3 |
MaxQBi | Q7Z2E3 |
PaxDbi | Q7Z2E3 |
PeptideAtlasi | Q7Z2E3 |
PRIDEi | Q7Z2E3 |
ProteomicsDBi | 66521 66522 68945 [Q7Z2E3-1] 68946 [Q7Z2E3-10] 68947 [Q7Z2E3-11] 68948 [Q7Z2E3-2] 68949 [Q7Z2E3-3] 68950 [Q7Z2E3-4] 68951 [Q7Z2E3-5] 68952 [Q7Z2E3-6] 68953 [Q7Z2E3-7] 68954 [Q7Z2E3-8] 68955 [Q7Z2E3-9] |
TopDownProteomicsi | Q7Z2E3-5 [Q7Z2E3-5] |
Protocols and materials databases
Antibodypediai | 10716, 247 antibodies from 30 providers |
DNASUi | 54840 |
Genome annotation databases
Organism-specific databases
CTDi | 54840 |
DisGeNETi | 54840 |
GeneCardsi | APTX |
GeneReviewsi | APTX |
HGNCi | HGNC:15984, APTX |
HPAi | ENSG00000137074, Low tissue specificity |
MalaCardsi | APTX |
MIMi | 208920, phenotype 606350, gene |
neXtProti | NX_Q7Z2E3 |
OpenTargetsi | ENSG00000137074 |
Orphaneti | 1168, Ataxia-oculomotor apraxia type 1 |
PharmGKBi | PA24915 |
VEuPathDBi | HostDB:ENSG00000137074 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0562, Eukaryota KOG2134, Eukaryota |
GeneTreei | ENSGT00940000156806 |
HOGENOMi | CLU_066882_2_1_1 |
InParanoidi | Q7Z2E3 |
OMAi | PLCWLIS |
OrthoDBi | 297700at2759 |
PhylomeDBi | Q7Z2E3 |
TreeFami | TF313308 |
Enzyme and pathway databases
BRENDAi | 3.1.11.7, 2681 3.6.1.70, 2681 3.6.1.71, 2681 3.6.1.72, 2681 |
PathwayCommonsi | Q7Z2E3 |
SABIO-RKi | Q7Z2E3 |
SignaLinki | Q7Z2E3 |
SIGNORi | Q7Z2E3 |
Miscellaneous databases
BioGRID-ORCSi | 54840, 15 hits in 1081 CRISPR screens |
ChiTaRSi | APTX, human |
EvolutionaryTracei | Q7Z2E3 |
GeneWikii | Aprataxin |
GenomeRNAii | 54840 |
Pharosi | Q7Z2E3, Tbio |
PROi | PR:Q7Z2E3 |
RNActi | Q7Z2E3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137074, Expressed in testis and 223 other tissues |
ExpressionAtlasi | Q7Z2E3, baseline and differential |
Genevisiblei | Q7Z2E3, HS |
Family and domain databases
CDDi | cd00060, FHA, 1 hit |
Gene3Di | 3.30.428.10, 1 hit |
InterProi | View protein in InterPro IPR026963, Aprataxin-like IPR041388, FHA_2 IPR000253, FHA_dom IPR019808, Histidine_triad_CS IPR011146, HIT-like IPR036265, HIT-like_sf IPR008984, SMAD_FHA_dom_sf IPR032566, Znf-C2HE IPR013087, Znf_C2H2_type |
PANTHERi | PTHR12486:SF4, PTHR12486:SF4, 2 hits |
Pfami | View protein in Pfam PF17913, FHA_2, 1 hit PF16278, zf-C2HE, 1 hit |
SUPFAMi | SSF49879, SSF49879, 1 hit SSF54197, SSF54197, 1 hit |
PROSITEi | View protein in PROSITE PS00892, HIT_1, 1 hit PS51084, HIT_2, 1 hit PS00028, ZINC_FINGER_C2H2_1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | APTX_HUMAN | |
Accessioni | Q7Z2E3Primary (citable) accession number: Q7Z2E3 Secondary accession number(s): A8MTN4 Q9NXM5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 7, 2004 |
Last sequence update: | June 7, 2004 | |
Last modified: | May 25, 2022 | |
This is version 188 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references