APTX
entrez
54840
canonical
uniprot
Q7Z2E3
canonical
ensembl
ENSG00000137074
resolver
ensp
ENSP00000311547
resolver
ensp
ENSP00000369145
resolver
ensp
ENSP00000369147
resolver
ensp
ENSP00000369153
resolver
ensp
ENSP00000380357
resolver
ensp
ENSP00000400806
resolver
ensp
ENSP00000419042
resolver
ensp
ENSP00000419846
resolver
ensp
ENSP00000420263
resolver
ensp
ENSP00000499997
resolver
ensp
ENSP00000500601
resolver
ensp
ENSP00000500738
resolver
ensp
ENSP00000538642
resolver
ensp
ENSP00000673157
resolver
ensp
ENSP00000673162
resolver
ensp
ENSP00000673168
resolver
ensp
ENSP00000673170
resolver
ensp
ENSP00000697004
resolver
enst
ENST00000397172
resolver
genesymbol
APTX
resolver
genesymbol_syn
AXA1
resolver
hgnc
HGNC:15984
resolver
uniprot
A0A5K1VW64
resolver
uniprot
A8MTN4
resolver
uniprot
D3DRK9
resolver
uniprot
D3DRL0
resolver
uniprot
Q0P662
resolver
uniprot
Q5T781
resolver
uniprot
Q5T782
resolver
uniprot
Q5T784
resolver
uniprot
Q6JV81
resolver
uniprot
Q6JV82
resolver
uniprot
Q6JV85
resolver
uniprot
Q7Z2F3
resolver
uniprot
Q7Z336
resolver
uniprot
Q7Z5R5
resolver
uniprot
Q7Z6V7
resolver
uniprot
Q7Z6V8
resolver
uniprot
Q9NXM5
resolver
uniprot_entry
A0A5K1VW64_HUMAN
resolver
uniprot_entry
APTX_HUMAN
resolver
uniprot_sec
A8MTN4
resolver
uniprot_sec
D3DRK9
resolver
uniprot_sec
D3DRL0
resolver
uniprot_sec
Q0P662
resolver
uniprot_sec
Q5T781
resolver
uniprot_sec
Q5T782
resolver
uniprot_sec
Q5T784
resolver
uniprot_sec
Q6JV81
resolver
uniprot_sec
Q6JV82
resolver
uniprot_sec
Q6JV85
resolver
uniprot_sec
Q7Z2F3
resolver
uniprot_sec
Q7Z336
resolver
uniprot_sec
Q7Z5R5
resolver
uniprot_sec
Q7Z6V7
resolver
uniprot_sec
Q7Z6V8
resolver
uniprot_sec
Q9NXM5
resolver
amino_acid_sequence
MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:24362567}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.71
uniprot
proteins
ec_number
3.6.1.72
uniprot
proteins
function
FUNCTION: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15044383, PubMed:15380105, 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-NH(2)) 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). {ECO:0000250|UniProtKB:O74859, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:16547001, ECO:0000269|PubMed:16964241, ECO:0000269|PubMed:17276982, ECO:0000269|PubMed:24362567}.
uniprot
proteins
mass_dalton
40740
uniprot
proteins
mutagenesis
MUTAGEN 43; /note="R->A: Impairs interaction with XRCC1 and XRCC4. Abolishes localization at sites of DNA double-strand breaks. Loss of interaction with MDC1."; /evidence="ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:20008512"; MUTAGEN 52; /note="K->A: Impairs interaction with MDC1 and localization at sites of DNA double-strand breaks."; /evidence="ECO:0000269|PubMed:20008512"; MUTAGEN 274; /note="H->A: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:16964241, ECO:0000269|PubMed:17276982"; MUTAGEN 333; /note="C->A: Abolishes DNA-binding and enzyme activity; when associated with A-336."; /evidence="ECO:0000269|PubMed:17276982"; MUTAGEN 336; /note="C->A: Abolishes DNA-binding and enzyme activity; when associated with A-333."; /evidence="ECO:0000269|PubMed:17276982
uniprot
proteins
pubmed
11586299
uniprot
proteins
pubmed
11586300
uniprot
proteins
pubmed
12196655
uniprot
proteins
pubmed
12629250
uniprot
proteins
pubmed
14506070
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14755728
uniprot
proteins
pubmed
15044383
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15276230
uniprot
proteins
pubmed
15380105
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15699391
uniprot
proteins
pubmed
15852392
uniprot
proteins
pubmed
16547001
uniprot
proteins
pubmed
16777843
uniprot
proteins
pubmed
16964241
uniprot
proteins
pubmed
17276982
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20008512
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24362567
uniprot
proteins
sequence_length
356
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:14755728, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15276230, ECO:0000269|PubMed:15380105}. Nucleus, nucleolus {ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:16777843}. 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). {ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:20008512}.; SUBCELLULAR LOCATION: [Isoform 12]: Cytoplasm {ECO:0000269|PubMed:15276230}.
uniprot
proteins