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Protein

Aprataxin

Gene

Aptx

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • cellular response to DNA damage stimulus Source: MGI
  • DNA ligation Source: MGI
  • double-strand break repair Source: MGI
  • regulation of protein stability Source: MGI
  • response to hydrogen peroxide Source: MGI
  • single strand break repair Source: UniProtKB

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.
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.
OMAiTVRDGMP.
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

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

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

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 22, 2017
This is version 126 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