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Protein

Aprataxin

Gene

Aptx

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 (PubMed:16964241). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (By similarity). 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 similarity1 Publication

Catalytic activityi

Adenosine-5'-diphospho-5'-(DNA) + H2O = AMP + phospho-5'-(DNA).1 Publication
Adenosine-5'-diphospho-5'-(ribonucleotide)-(DNA) + H2O = AMP + 5'-phospho-(ribonucleotide)-(DNA).1 Publication
(DNA)-3'-diphospho-5'-guanosine + H2O = (DNA)-3'-phosphate + GMP.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei260Tele-AMP-histidine intermediateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri317 – 339C2H2-typePROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Hydrolase
Biological processDNA damage, DNA repair
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Aprataxin (EC:3.1.11.71 Publication, EC:3.1.12.2By similarity)
Alternative name(s):
Forkhead-associated domain histidine triad-like protein
Short name:
FHA-HIT
Gene namesi
Name:Aptx
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:1913658 Aptx

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001098401 – 342AprataxinAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei123PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei134PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ7TQC5
PeptideAtlasiQ7TQC5
PRIDEiQ7TQC5

PTM databases

iPTMnetiQ7TQC5
PhosphoSitePlusiQ7TQC5

Expressioni

Tissue specificityi

Widely expressed. Expressed in heart, liver, kidney, spleen, lung, muscle, brain stem, spinal cord, cerebellum and brain.1 Publication

Gene expression databases

BgeeiENSMUSG00000028411 Expressed in 267 organ(s), highest expression level in testis
CleanExiMM_APTX
ExpressionAtlasiQ7TQC5 baseline and differential
GenevisibleiQ7TQC5 MM

Interactioni

Subunit structurei

Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA-like domain) with MDC1 (phosphorylated).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei174Interaction with DNA substrateBy similarity1
Sitei251Interaction with DNA substrateBy similarity1
Sitei262Interaction with DNA substrateBy similarity1
Sitei277Interaction with DNA substrateBy similarity1

GO - Molecular functioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000124264

Structurei

3D structure databases

ProteinModelPortaliQ7TQC5
SMRiQ7TQC5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 79FHA-likeAdd BLAST50
Domaini168 – 273HITPROSITE-ProRule annotationAdd BLAST106

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 102Interactions with ADPRT and NCLBy similarityAdd BLAST102
Regioni193 – 197Interaction with DNA substrateBy similarity5
Regioni255 – 256Interaction with DNA substrateBy similarity2

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi118 – 122Nuclear localization signalBy similarity5
Motifi258 – 262Histidine triad motifPROSITE-ProRule annotation5

Domaini

The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.By similarity
The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.By similarity
The HIT domain is required for enzymatic activity.By similarity
The C2H2-type zinc finger mediates DNA-binding.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri317 – 339C2H2-typePROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG0562 Eukaryota
KOG2134 Eukaryota
ENOG41102F4 LUCA
GeneTreeiENSGT00570000079163
HOGENOMiHOG000248858
HOVERGENiHBG050555
InParanoidiQ7TQC5
KOiK10863
OMAiWLVRQDN
OrthoDBiEOG091G0KPQ
PhylomeDBiQ7TQC5
TreeFamiTF313308

Family and domain databases

CDDicd00060 FHA, 1 hit
Gene3Di3.30.428.10, 1 hit
InterProiView protein in InterPro
IPR026963 Aprataxin
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
PANTHERiPTHR12486:SF4 PTHR12486:SF4, 1 hit
PfamiView protein in Pfam
PF16278 zf-C2HE, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF54197 SSF54197, 1 hit
PROSITEiView protein in PROSITE
PS00892 HIT_1, 1 hit
PS51084 HIT_2, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 1 hit
PS50157 ZINC_FINGER_C2H2_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7TQC5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPEAVAKMRV CWLVRQDSRH QRIKLPHLEA VVIGRSPETK ITDKKCSRQQ
60 70 80 90 100
VQLKAECNKG YVKVQQMGVN PTSIDSGVIG KDQEKKLLPG QVLHMVNGLY
110 120 130 140 150
PYIVEFEEVA ESPNLTQRKR KRSDCDSEEM EAESGTGLAP GSSPSQCSVS
160 170 180 190 200
PKKDKNGATK KESLGHWSQG LKMSMKDPKM QVYKDDQVVV IKDKYPKARH
210 220 230 240 250
HWLVLPWASI SSLKVVTSEH LELLKHMHAV GEKVIADFAG SSKLRFRLGY
260 270 280 290 300
HAIPSMSHVH LHVISQDFDS PCLKNKKHWN SFNTEYFLES QAVIKMVQEA
310 320 330 340
GRVTVKDGTC ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW GG
Length:342
Mass (Da):38,723
Last modified:June 7, 2004 - v2
Checksum:iA8D77F2F4B362F03
GO
Isoform 2 (identifier: Q7TQC5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: Missing.

Show »
Length:276
Mass (Da):31,069
Checksum:i702802B5C6C13764
GO
Isoform 3 (identifier: Q7TQC5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: Missing.

Show »
Length:335
Mass (Da):37,996
Checksum:iB952BC82C02F6F54
GO
Isoform 4 (identifier: Q7TQC5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: Missing.
     67-161: Missing.

Note: No experimental confirmation available.
Show »
Length:240
Mass (Da):27,776
Checksum:i4E2AD21F447B2E87
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E0CXB7E0CXB7_MOUSE
Aprataxin
Aptx
48Annotation score:

Sequence cautioni

The sequence AAP86334 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti86K → L in AAH21872 (PubMed:15489334).Curated1
Sequence conflicti237D → E in AAH21872 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0105421 – 66Missing in isoform 2. 1 PublicationAdd BLAST66
Alternative sequenceiVSP_0105431 – 7Missing in isoform 3 and isoform 4. 2 Publications7
Alternative sequenceiVSP_01054467 – 161Missing in isoform 4. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY040780 mRNA Translation: AAK91771.1
AY040782 Genomic DNA Translation: AAK91773.1
AY208844 mRNA Translation: AAP86334.1 Different initiation.
AK005286 mRNA Translation: BAB23933.2
AK010516 mRNA Translation: BAB26998.2
AK077351 mRNA Translation: BAC36763.1
AK088928 mRNA Translation: BAC40657.1
BC021872 mRNA Translation: AAH21872.2
CCDSiCCDS38711.1 [Q7TQC5-1]
CCDS38712.1 [Q7TQC5-3]
RefSeqiNP_001020615.1, NM_001025444.3 [Q7TQC5-3]
NP_001020616.1, NM_001025445.2 [Q7TQC5-2]
NP_079821.3, NM_025545.4 [Q7TQC5-1]
XP_006538229.1, XM_006538166.3 [Q7TQC5-3]
XP_006538230.1, XM_006538167.3 [Q7TQC5-3]
XP_006538231.1, XM_006538168.3 [Q7TQC5-3]
XP_006538232.1, XM_006538169.3 [Q7TQC5-3]
XP_006538233.1, XM_006538170.3 [Q7TQC5-3]
XP_006538234.1, XM_006538171.3 [Q7TQC5-2]
UniGeneiMm.430710

Genome annotation databases

EnsembliENSMUST00000030119; ENSMUSP00000030119; ENSMUSG00000028411 [Q7TQC5-3]
ENSMUST00000068125; ENSMUSP00000124264; ENSMUSG00000028411 [Q7TQC5-1]
ENSMUST00000108103; ENSMUSP00000103738; ENSMUSG00000028411 [Q7TQC5-4]
GeneIDi66408
KEGGimmu:66408
UCSCiuc008sho.1 mouse [Q7TQC5-1]
uc008shr.2 mouse [Q7TQC5-4]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY040780 mRNA Translation: AAK91771.1
AY040782 Genomic DNA Translation: AAK91773.1
AY208844 mRNA Translation: AAP86334.1 Different initiation.
AK005286 mRNA Translation: BAB23933.2
AK010516 mRNA Translation: BAB26998.2
AK077351 mRNA Translation: BAC36763.1
AK088928 mRNA Translation: BAC40657.1
BC021872 mRNA Translation: AAH21872.2
CCDSiCCDS38711.1 [Q7TQC5-1]
CCDS38712.1 [Q7TQC5-3]
RefSeqiNP_001020615.1, NM_001025444.3 [Q7TQC5-3]
NP_001020616.1, NM_001025445.2 [Q7TQC5-2]
NP_079821.3, NM_025545.4 [Q7TQC5-1]
XP_006538229.1, XM_006538166.3 [Q7TQC5-3]
XP_006538230.1, XM_006538167.3 [Q7TQC5-3]
XP_006538231.1, XM_006538168.3 [Q7TQC5-3]
XP_006538232.1, XM_006538169.3 [Q7TQC5-3]
XP_006538233.1, XM_006538170.3 [Q7TQC5-3]
XP_006538234.1, XM_006538171.3 [Q7TQC5-2]
UniGeneiMm.430710

3D structure databases

ProteinModelPortaliQ7TQC5
SMRiQ7TQC5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000124264

PTM databases

iPTMnetiQ7TQC5
PhosphoSitePlusiQ7TQC5

Proteomic databases

PaxDbiQ7TQC5
PeptideAtlasiQ7TQC5
PRIDEiQ7TQC5

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000030119; ENSMUSP00000030119; ENSMUSG00000028411 [Q7TQC5-3]
ENSMUST00000068125; ENSMUSP00000124264; ENSMUSG00000028411 [Q7TQC5-1]
ENSMUST00000108103; ENSMUSP00000103738; ENSMUSG00000028411 [Q7TQC5-4]
GeneIDi66408
KEGGimmu:66408
UCSCiuc008sho.1 mouse [Q7TQC5-1]
uc008shr.2 mouse [Q7TQC5-4]

Organism-specific databases

CTDi54840
MGIiMGI:1913658 Aptx

Phylogenomic databases

eggNOGiKOG0562 Eukaryota
KOG2134 Eukaryota
ENOG41102F4 LUCA
GeneTreeiENSGT00570000079163
HOGENOMiHOG000248858
HOVERGENiHBG050555
InParanoidiQ7TQC5
KOiK10863
OMAiWLVRQDN
OrthoDBiEOG091G0KPQ
PhylomeDBiQ7TQC5
TreeFamiTF313308

Miscellaneous databases

PROiPR:Q7TQC5
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000028411 Expressed in 267 organ(s), highest expression level in testis
CleanExiMM_APTX
ExpressionAtlasiQ7TQC5 baseline and differential
GenevisibleiQ7TQC5 MM

Family and domain databases

CDDicd00060 FHA, 1 hit
Gene3Di3.30.428.10, 1 hit
InterProiView protein in InterPro
IPR026963 Aprataxin
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
PANTHERiPTHR12486:SF4 PTHR12486:SF4, 1 hit
PfamiView protein in Pfam
PF16278 zf-C2HE, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF54197 SSF54197, 1 hit
PROSITEiView protein in PROSITE
PS00892 HIT_1, 1 hit
PS51084 HIT_2, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 1 hit
PS50157 ZINC_FINGER_C2H2_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAPTX_MOUSE
AccessioniPrimary (citable) accession number: Q7TQC5
Secondary accession number(s): Q8BPA7
, Q8C2B5, Q8K3D1, Q9CQ59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: November 7, 2018
This is version 129 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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