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Protein

Aprataxin

Gene

APTX

Organism
Homo sapiens (Human)
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. Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.5 Publications

Kineticsi

  1. KM=18 µM for AppppA
  2. KM=837.5 µM for AMP-NH2

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Active sitei274Tele-AMP-histidine intermediateCurated1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Zinc fingeri331 – 353C2H2-typeAdd BLAST23

    GO - Molecular functioni

    • chromatin binding Source: UniProtKB
    • damaged DNA binding Source: UniProtKB
    • 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
    • phosphoglycolate phosphatase activity Source: UniProtKB
    • phosphoprotein binding Source: UniProtKB
    • polynucleotide 3'-phosphatase activity Source: UniProtKB
    • protein N-terminus binding Source: UniProtKB

    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
    Complete GO annotation...

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    DNA damage, DNA repair

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    SABIO-RKQ7Z2E3.
    SIGNORiQ7Z2E3.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aprataxin (EC:3.-.-.-)
    Alternative name(s):
    Forkhead-associated domain histidine triad-like protein
    Short name:
    FHA-HIT
    Gene namesi
    Name:APTX
    Synonyms:AXA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:15984. APTX.

    Subcellular locationi

    • Nucleusnucleoplasm
    • Nucleusnucleolus

    • 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.

    GO - Cellular componenti

    • chromatin Source: UniProtKB
    • cytoplasm Source: UniProtKB-SubCell
    • nucleolus Source: UniProtKB
    • nucleoplasm Source: UniProtKB
    • nucleus Source: HPA
    Complete GO annotation...

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Ataxia-oculomotor apraxia syndrome (AOA)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
    See also OMIM:208920
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_018794211K → Q in AOA. 1 Publication1
    Natural variantiVAR_018795212A → V in AOA; heterozygous. 1 PublicationCorresponds to variant rs748165574dbSNPEnsembl.1
    Natural variantiVAR_018796213R → H in AOA. 1 PublicationCorresponds to variant rs150886026dbSNPEnsembl.1
    Natural variantiVAR_018797215H → R in AOA. 1 PublicationCorresponds to variant rs121908133dbSNPEnsembl.1
    Natural variantiVAR_018798220P → L in AOA. 2 PublicationsCorresponds to variant rs121908131dbSNPEnsembl.1
    Natural variantiVAR_025365237L → P in AOA. 1 PublicationCorresponds to variant rs267606665dbSNPEnsembl.1
    Natural variantiVAR_018799277V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant rs121908132dbSNPEnsembl.1
    Natural variantiVAR_018800281D → G in AOA; heterozygous. 1
    Natural variantiVAR_018801293W → R in AOA; heterozygous. 1 PublicationCorresponds to variant rs773393618dbSNPEnsembl.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi43R → A: Impairs interaction with XRCC1 and XRCC4. Abolishes localization at sites of DNA double-strand breaks. Loss of interaction with MDC1. 2 Publications1
    Mutagenesisi52K → A: Impairs interaction with MDC1 and localization at sites of DNA double-strand breaks. 1 Publication1
    Mutagenesisi274H → A: Abolishes enzyme activity. 2 Publications1
    Mutagenesisi333C → A: Abolishes DNA-binding and enzyme activity; when associated with A-336. 1 Publication1
    Mutagenesisi336C → A: Abolishes DNA-binding and enzyme activity; when associated with A-333. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Neurodegeneration

    Organism-specific databases

    DisGeNETi54840.
    MalaCardsiAPTX.
    MIMi208920. phenotype.
    OpenTargetsiENSG00000137074.
    Orphaneti1168. Ataxia - oculomotor apraxia type 1.
    PharmGKBiPA24915.

    Polymorphism and mutation databases

    BioMutaiAPTX.
    DMDMi48428038.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00001098381 – 356AprataxinAdd BLAST356

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei132PhosphoserineCombined sources1
    Modified residuei137PhosphoserineBy similarity1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    EPDiQ7Z2E3.
    MaxQBiQ7Z2E3.
    PaxDbiQ7Z2E3.
    PeptideAtlasiQ7Z2E3.
    PRIDEiQ7Z2E3.
    TopDownProteomicsiQ7Z2E3-5. [Q7Z2E3-5]

    PTM databases

    iPTMnetiQ7Z2E3.
    PhosphoSitePlusiQ7Z2E3.

    Expressioni

    Tissue specificityi

    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 2.3 Publications

    Gene expression databases

    BgeeiENSG00000137074.
    CleanExiHS_APTX.
    ExpressionAtlasiQ7Z2E3. baseline and differential.
    GenevisibleiQ7Z2E3. HS.

    Organism-specific databases

    HPAiHPA064930.

    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).5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PARP1P098748EBI-847814,EBI-355676
    PNMA1Q8ND903EBI-847814,EBI-302345
    XRCC1P1888711EBI-847814,EBI-947466
    XRCC4Q134263EBI-847814,EBI-717592

    GO - Molecular functioni

    • phosphoprotein binding Source: UniProtKB
    • protein N-terminus binding Source: UniProtKB

    Protein-protein interaction databases

    BioGridi120191. 26 interactors.
    IntActiQ7Z2E3. 21 interactors.
    MINTiMINT-1205251.
    STRINGi9606.ENSP00000369141.

    Structurei

    Secondary structure

    1356
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi18 – 23Combined sources6
    Beta strandi30 – 32Combined sources3
    Beta strandi38 – 41Combined sources4
    Turni45 – 47Combined sources3
    Beta strandi59 – 64Combined sources6
    Turni65 – 68Combined sources4
    Beta strandi69 – 74Combined sources6
    Beta strandi76 – 78Combined sources3
    Beta strandi92 – 95Combined sources4
    Beta strandi101 – 104Combined sources4
    Beta strandi107 – 115Combined sources9
    Helixi181 – 183Combined sources3
    Helixi184 – 188Combined sources5
    Turni192 – 194Combined sources3
    Beta strandi195 – 198Combined sources4
    Beta strandi200 – 206Combined sources7
    Beta strandi211 – 222Combined sources12
    Helixi227 – 229Combined sources3
    Helixi232 – 234Combined sources3
    Helixi235 – 253Combined sources19
    Helixi254 – 256Combined sources3
    Beta strandi260 – 267Combined sources8
    Beta strandi269 – 272Combined sources4
    Beta strandi275 – 279Combined sources5
    Helixi290 – 297Combined sources8
    Beta strandi301 – 303Combined sources3
    Helixi304 – 314Combined sources11
    Helixi323 – 326Combined sources4
    Turni334 – 336Combined sources3
    Beta strandi339 – 342Combined sources4
    Helixi343 – 350Combined sources8
    Helixi351 – 353Combined sources3

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3KT9X-ray1.65A15-116[»]
    4NDFX-ray1.94A/B179-356[»]
    4NDGX-ray2.54A/B179-356[»]
    4NDHX-ray1.85A/B179-356[»]
    4NDIX-ray1.90A/B179-356[»]
    ProteinModelPortaliQ7Z2E3.
    SMRiQ7Z2E3.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ7Z2E3.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini38 – 87FHA-likeAdd BLAST50
    Domaini182 – 287HITPROSITE-ProRule annotationAdd BLAST106

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni1 – 110Interactions with ADPRT and NCLAdd BLAST110

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Motifi126 – 131Nuclear localization signalCurated6
    Motifi272 – 276Histidine triad motif5

    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.
    The HIT domain is required for enzymatic activity.
    The C2H2-type zinc finger mediates DNA-binding.

    Sequence similaritiesi

    Contains 1 C2H2-type zinc finger.Curated
    Contains 1 FHA-like domain.Curated
    Contains 1 HIT domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Zinc fingeri331 – 353C2H2-typeAdd BLAST23

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiKOG0562. Eukaryota.
    KOG2134. Eukaryota.
    ENOG41102F4. LUCA.
    GeneTreeiENSGT00570000079163.
    HOGENOMiHOG000248858.
    HOVERGENiHBG050555.
    InParanoidiQ7Z2E3.
    KOiK10863.
    OMAiPGQVLHM.
    OrthoDBiEOG091G0KPQ.
    PhylomeDBiQ7Z2E3.
    TreeFamiTF313308.

    Family and domain databases

    Gene3Di2.60.200.20. 2 hits.
    3.30.428.10. 1 hit.
    InterProiIPR026963. Aprataxin.
    IPR000253. FHA_dom.
    IPR019808. Histidine_triad_CS.
    IPR011146. HIT-like.
    IPR008984. SMAD_FHA_domain.
    IPR032566. Znf-C2HE.
    IPR007087. Znf_C2H2.
    [Graphical view]
    PANTHERiPTHR12486:SF4. PTHR12486:SF4. 1 hit.
    PfamiPF00498. FHA. 1 hit.
    PF16278. zf-C2HE. 1 hit.
    [Graphical view]
    SUPFAMiSSF49879. SSF49879. 1 hit.
    SSF54197. SSF54197. 1 hit.
    PROSITEiPS00892. HIT_1. 1 hit.
    PS51084. HIT_2. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 1 hit.
    [Graphical view]

    Sequences (13)i

    Sequence statusi: Complete.

    This entry describes 13 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q7Z2E3-1) [UniParc]FASTAAdd to basket
    Also known as: Long

    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
    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
    Note: Major form.
    Length:356
    Mass (Da):40,740
    Last modified:June 7, 2004 - v2
    Checksum:i5B338490E35EC8E4
    GO
    Isoform 2 (identifier: Q7Z2E3-2) [UniParc]FASTAAdd to basket
    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         1-188: Missing.

    Note: Minor form.
    Show »
    Length:168
    Mass (Da):19,715
    Checksum:i2AF4F98B97C0A76B
    GO
    Isoform 3 (identifier: Q7Z2E3-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         104-175: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:284
    Mass (Da):32,901
    Checksum:i4213615369B997A5
    GO
    Isoform 4 (identifier: Q7Z2E3-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-102: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:254
    Mass (Da):29,108
    Checksum:iB2338C3B2822B710
    GO
    Isoform 5 (identifier: Q7Z2E3-5) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         59-112: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:288
    Mass (Da):33,125
    Checksum:iAD5D2BD20A81EBD6
    GO
    Isoform 6 (identifier: Q7Z2E3-6) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-193: Missing.
         306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:113
    Mass (Da):13,305
    Checksum:i5583AA4F55EDF41B
    GO
    Isoform 7 (identifier: Q7Z2E3-7) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.

    Show »
    Length:342
    Mass (Da):39,104
    Checksum:iC0D4FAEBF89ABA74
    GO
    Isoform 8 (identifier: Q7Z2E3-8) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         175-193: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:337
    Mass (Da):38,589
    Checksum:iDC2FF196087D3ADB
    GO
    Isoform 9 (identifier: Q7Z2E3-9) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E

    Note: No experimental confirmation available.
    Show »
    Length:292
    Mass (Da):33,294
    Checksum:i5802EE9F37B07600
    GO
    Isoform 10 (identifier: Q7Z2E3-10) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         59-112: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:302
    Mass (Da):34,761
    Checksum:i4CAFA4C9BB2399EC
    GO
    Isoform 11 (identifier: Q7Z2E3-11) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E

    Note: No experimental confirmation available.
    Show »
    Length:306
    Mass (Da):34,930
    Checksum:iAC5FCCDC3642F91B
    GO
    Isoform 12 (identifier: Q7Z2E3-12) [UniParc]FASTAAdd to basket
    Also known as: LP2, LP2E5, LP2P3, LP2P3E5

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         60-63: QLKA → ESRV
         64-356: Missing.

    Show »
    Length:49
    Mass (Da):5,828
    Checksum:iF731A5E3CB6C1C8A
    GO
    Isoform 13 (identifier: Q7Z2E3-13) [UniParc]FASTAAdd to basket
    Also known as: LE5

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         196-356: VYKDEQVVVI...KEHLRKHWTQ → PCTSSCDQPGF

    Show »
    Length:192
    Mass (Da):21,389
    Checksum:i80F7BD34425AAA69
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_018794211K → Q in AOA. 1 Publication1
    Natural variantiVAR_018795212A → V in AOA; heterozygous. 1 PublicationCorresponds to variant rs748165574dbSNPEnsembl.1
    Natural variantiVAR_018796213R → H in AOA. 1 PublicationCorresponds to variant rs150886026dbSNPEnsembl.1
    Natural variantiVAR_018797215H → R in AOA. 1 PublicationCorresponds to variant rs121908133dbSNPEnsembl.1
    Natural variantiVAR_018798220P → L in AOA. 2 PublicationsCorresponds to variant rs121908131dbSNPEnsembl.1
    Natural variantiVAR_025365237L → P in AOA. 1 PublicationCorresponds to variant rs267606665dbSNPEnsembl.1
    Natural variantiVAR_018799277V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant rs121908132dbSNPEnsembl.1
    Natural variantiVAR_018800281D → G in AOA; heterozygous. 1
    Natural variantiVAR_018801293W → R in AOA; heterozygous. 1 PublicationCorresponds to variant rs773393618dbSNPEnsembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0105341 – 193Missing in isoform 6. 1 PublicationAdd BLAST193
    Alternative sequenceiVSP_0105351 – 188Missing in isoform 2. 4 PublicationsAdd BLAST188
    Alternative sequenceiVSP_0105361 – 102Missing in isoform 4. 3 PublicationsAdd BLAST102
    Alternative sequenceiVSP_0105371 – 14Missing in isoform 5, isoform 7, isoform 9, isoform 12 and isoform 13. 5 PublicationsAdd BLAST14
    Alternative sequenceiVSP_01053859 – 112Missing in isoform 5 and isoform 10. 2 PublicationsAdd BLAST54
    Alternative sequenceiVSP_04409160 – 63QLKA → ESRV in isoform 12. 1 Publication4
    Alternative sequenceiVSP_04409264 – 356Missing in isoform 12. 1 PublicationAdd BLAST293
    Alternative sequenceiVSP_010539104 – 175Missing in isoform 3. 1 PublicationAdd BLAST72
    Alternative sequenceiVSP_010540175 – 193Missing in isoform 8. 1 PublicationAdd BLAST19
    Alternative sequenceiVSP_044093196 – 356VYKDE…KHWTQ → PCTSSCDQPGF in isoform 13. 1 PublicationAdd BLAST161
    Alternative sequenceiVSP_010541306 – 356AVIEM…KHWTQ → E in isoform 6, isoform 9 and isoform 11. 3 PublicationsAdd BLAST51

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY302067 mRNA. Translation: AAQ74130.1.
    AY302068 mRNA. Translation: AAQ74131.1.
    AY302070 mRNA. Translation: AAQ74133.1.
    AY302071 mRNA. Translation: AAQ74134.1.
    AY302072 mRNA. Translation: AAQ74135.1.
    AY302074 mRNA. Translation: AAQ74137.1.
    AY040777 mRNA. Translation: AAK91768.1.
    AY208829 mRNA. Translation: AAP86319.1.
    AY208830 mRNA. Translation: AAP86320.1.
    AY208831 mRNA. Translation: AAP86321.1.
    AY208832 mRNA. Translation: AAP86322.1.
    AY208833 mRNA. Translation: AAP86323.1.
    AY208834 mRNA. Translation: AAP86324.1.
    AY208835 mRNA. Translation: AAP86325.1.
    AY208836 mRNA. Translation: AAP86326.1.
    AY208837 mRNA. Translation: AAP86327.1.
    AY208838 mRNA. Translation: AAP86328.1.
    AY208839 mRNA. Translation: AAP86329.1.
    AY208840 mRNA. Translation: AAP86330.1.
    AY208841 mRNA. Translation: AAP86331.1.
    AY208842 mRNA. Translation: AAP86332.1.
    AK000164 mRNA. Translation: BAA90985.1.
    AK055672 mRNA. Translation: BAG51552.1.
    BX538161 mRNA. Translation: CAD98041.1.
    AL162590, AL353717 Genomic DNA. Translation: CAI15549.1.
    AL162590, AL353717 Genomic DNA. Translation: CAI15551.1.
    AL353717, AL162590 Genomic DNA. Translation: CAI15728.1.
    AL353717, AL162590 Genomic DNA. Translation: CAI15730.1.
    AL353717 Genomic DNA. Translation: CAI15734.1.
    AL353717 Genomic DNA. Translation: CAI15735.1.
    CH471071 Genomic DNA. Translation: EAW58530.1.
    CH471071 Genomic DNA. Translation: EAW58529.1.
    CH471071 Genomic DNA. Translation: EAW58531.1.
    CH471071 Genomic DNA. Translation: EAW58532.1.
    CH471071 Genomic DNA. Translation: EAW58534.1.
    CH471071 Genomic DNA. Translation: EAW58535.1.
    BC001628 mRNA. Translation: AAH01628.1.
    BC032650 mRNA. Translation: AAH32650.1.
    BC104881 mRNA. Translation: AAI04882.1.
    AJ565850 mRNA. Translation: CAD92454.1.
    AJ565851 mRNA. Translation: CAD92455.1.
    AJ565852 mRNA. Translation: CAD92456.1.
    AJ565853 mRNA. Translation: CAD92457.1.
    AJ565854 mRNA. Translation: CAD92458.1.
    AJ565855 mRNA. Translation: CAD92459.1.
    AJ575566 mRNA. Translation: CAE01427.1.
    CCDSiCCDS47956.1. [Q7Z2E3-7]
    CCDS56568.1. [Q7Z2E3-10]
    CCDS6532.1. [Q7Z2E3-11]
    CCDS75827.1. [Q7Z2E3-5]
    RefSeqiNP_001182177.1. NM_001195248.1. [Q7Z2E3-1]
    NP_001182178.1. NM_001195249.1. [Q7Z2E3-7]
    NP_001182179.1. NM_001195250.1. [Q7Z2E3-10]
    NP_001182180.1. NM_001195251.1. [Q7Z2E3-9]
    NP_001182181.1. NM_001195252.1. [Q7Z2E3-3]
    NP_001182183.1. NM_001195254.1. [Q7Z2E3-5]
    NP_778239.1. NM_175069.2. [Q7Z2E3-11]
    NP_778243.1. NM_175073.2. [Q7Z2E3-7]
    XP_006716854.1. XM_006716791.3. [Q7Z2E3-7]
    XP_006716855.1. XM_006716792.2. [Q7Z2E3-4]
    XP_011516240.1. XM_011517938.1. [Q7Z2E3-4]
    XP_011516241.1. XM_011517939.2. [Q7Z2E3-4]
    XP_016870326.1. XM_017014837.1. [Q7Z2E3-5]
    UniGeneiHs.20158.

    Genome annotation databases

    EnsembliENST00000309615; ENSP00000311547; ENSG00000137074. [Q7Z2E3-5]
    ENST00000379817; ENSP00000369145; ENSG00000137074. [Q7Z2E3-7]
    ENST00000379819; ENSP00000369147; ENSG00000137074. [Q7Z2E3-1]
    ENST00000379825; ENSP00000369153; ENSG00000137074. [Q7Z2E3-11]
    ENST00000397172; ENSP00000380357; ENSG00000137074. [Q7Z2E3-3]
    ENST00000436040; ENSP00000400806; ENSG00000137074. [Q7Z2E3-7]
    ENST00000460940; ENSP00000418311; ENSG00000137074. [Q7Z2E3-12]
    ENST00000463596; ENSP00000419846; ENSG00000137074. [Q7Z2E3-7]
    ENST00000467331; ENSP00000418733; ENSG00000137074. [Q7Z2E3-12]
    ENST00000468275; ENSP00000420263; ENSG00000137074. [Q7Z2E3-7]
    ENST00000472896; ENSP00000417804; ENSG00000137074. [Q7Z2E3-12]
    ENST00000476858; ENSP00000419042; ENSG00000137074. [Q7Z2E3-10]
    ENST00000479656; ENSP00000420071; ENSG00000137074. [Q7Z2E3-12]
    ENST00000482687; ENSP00000419289; ENSG00000137074. [Q7Z2E3-13]
    ENST00000485479; ENSP00000418144; ENSG00000137074. [Q7Z2E3-12]
    ENST00000494649; ENSP00000417634; ENSG00000137074. [Q7Z2E3-12]
    ENST00000495360; ENSP00000419623; ENSG00000137074. [Q7Z2E3-12]
    GeneIDi54840.
    KEGGihsa:54840.
    UCSCiuc003zrm.4. human. [Q7Z2E3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY302067 mRNA. Translation: AAQ74130.1.
    AY302068 mRNA. Translation: AAQ74131.1.
    AY302070 mRNA. Translation: AAQ74133.1.
    AY302071 mRNA. Translation: AAQ74134.1.
    AY302072 mRNA. Translation: AAQ74135.1.
    AY302074 mRNA. Translation: AAQ74137.1.
    AY040777 mRNA. Translation: AAK91768.1.
    AY208829 mRNA. Translation: AAP86319.1.
    AY208830 mRNA. Translation: AAP86320.1.
    AY208831 mRNA. Translation: AAP86321.1.
    AY208832 mRNA. Translation: AAP86322.1.
    AY208833 mRNA. Translation: AAP86323.1.
    AY208834 mRNA. Translation: AAP86324.1.
    AY208835 mRNA. Translation: AAP86325.1.
    AY208836 mRNA. Translation: AAP86326.1.
    AY208837 mRNA. Translation: AAP86327.1.
    AY208838 mRNA. Translation: AAP86328.1.
    AY208839 mRNA. Translation: AAP86329.1.
    AY208840 mRNA. Translation: AAP86330.1.
    AY208841 mRNA. Translation: AAP86331.1.
    AY208842 mRNA. Translation: AAP86332.1.
    AK000164 mRNA. Translation: BAA90985.1.
    AK055672 mRNA. Translation: BAG51552.1.
    BX538161 mRNA. Translation: CAD98041.1.
    AL162590, AL353717 Genomic DNA. Translation: CAI15549.1.
    AL162590, AL353717 Genomic DNA. Translation: CAI15551.1.
    AL353717, AL162590 Genomic DNA. Translation: CAI15728.1.
    AL353717, AL162590 Genomic DNA. Translation: CAI15730.1.
    AL353717 Genomic DNA. Translation: CAI15734.1.
    AL353717 Genomic DNA. Translation: CAI15735.1.
    CH471071 Genomic DNA. Translation: EAW58530.1.
    CH471071 Genomic DNA. Translation: EAW58529.1.
    CH471071 Genomic DNA. Translation: EAW58531.1.
    CH471071 Genomic DNA. Translation: EAW58532.1.
    CH471071 Genomic DNA. Translation: EAW58534.1.
    CH471071 Genomic DNA. Translation: EAW58535.1.
    BC001628 mRNA. Translation: AAH01628.1.
    BC032650 mRNA. Translation: AAH32650.1.
    BC104881 mRNA. Translation: AAI04882.1.
    AJ565850 mRNA. Translation: CAD92454.1.
    AJ565851 mRNA. Translation: CAD92455.1.
    AJ565852 mRNA. Translation: CAD92456.1.
    AJ565853 mRNA. Translation: CAD92457.1.
    AJ565854 mRNA. Translation: CAD92458.1.
    AJ565855 mRNA. Translation: CAD92459.1.
    AJ575566 mRNA. Translation: CAE01427.1.
    CCDSiCCDS47956.1. [Q7Z2E3-7]
    CCDS56568.1. [Q7Z2E3-10]
    CCDS6532.1. [Q7Z2E3-11]
    CCDS75827.1. [Q7Z2E3-5]
    RefSeqiNP_001182177.1. NM_001195248.1. [Q7Z2E3-1]
    NP_001182178.1. NM_001195249.1. [Q7Z2E3-7]
    NP_001182179.1. NM_001195250.1. [Q7Z2E3-10]
    NP_001182180.1. NM_001195251.1. [Q7Z2E3-9]
    NP_001182181.1. NM_001195252.1. [Q7Z2E3-3]
    NP_001182183.1. NM_001195254.1. [Q7Z2E3-5]
    NP_778239.1. NM_175069.2. [Q7Z2E3-11]
    NP_778243.1. NM_175073.2. [Q7Z2E3-7]
    XP_006716854.1. XM_006716791.3. [Q7Z2E3-7]
    XP_006716855.1. XM_006716792.2. [Q7Z2E3-4]
    XP_011516240.1. XM_011517938.1. [Q7Z2E3-4]
    XP_011516241.1. XM_011517939.2. [Q7Z2E3-4]
    XP_016870326.1. XM_017014837.1. [Q7Z2E3-5]
    UniGeneiHs.20158.

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3KT9X-ray1.65A15-116[»]
    4NDFX-ray1.94A/B179-356[»]
    4NDGX-ray2.54A/B179-356[»]
    4NDHX-ray1.85A/B179-356[»]
    4NDIX-ray1.90A/B179-356[»]
    ProteinModelPortaliQ7Z2E3.
    SMRiQ7Z2E3.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120191. 26 interactors.
    IntActiQ7Z2E3. 21 interactors.
    MINTiMINT-1205251.
    STRINGi9606.ENSP00000369141.

    PTM databases

    iPTMnetiQ7Z2E3.
    PhosphoSitePlusiQ7Z2E3.

    Polymorphism and mutation databases

    BioMutaiAPTX.
    DMDMi48428038.

    Proteomic databases

    EPDiQ7Z2E3.
    MaxQBiQ7Z2E3.
    PaxDbiQ7Z2E3.
    PeptideAtlasiQ7Z2E3.
    PRIDEiQ7Z2E3.
    TopDownProteomicsiQ7Z2E3-5. [Q7Z2E3-5]

    Protocols and materials databases

    DNASUi54840.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000309615; ENSP00000311547; ENSG00000137074. [Q7Z2E3-5]
    ENST00000379817; ENSP00000369145; ENSG00000137074. [Q7Z2E3-7]
    ENST00000379819; ENSP00000369147; ENSG00000137074. [Q7Z2E3-1]
    ENST00000379825; ENSP00000369153; ENSG00000137074. [Q7Z2E3-11]
    ENST00000397172; ENSP00000380357; ENSG00000137074. [Q7Z2E3-3]
    ENST00000436040; ENSP00000400806; ENSG00000137074. [Q7Z2E3-7]
    ENST00000460940; ENSP00000418311; ENSG00000137074. [Q7Z2E3-12]
    ENST00000463596; ENSP00000419846; ENSG00000137074. [Q7Z2E3-7]
    ENST00000467331; ENSP00000418733; ENSG00000137074. [Q7Z2E3-12]
    ENST00000468275; ENSP00000420263; ENSG00000137074. [Q7Z2E3-7]
    ENST00000472896; ENSP00000417804; ENSG00000137074. [Q7Z2E3-12]
    ENST00000476858; ENSP00000419042; ENSG00000137074. [Q7Z2E3-10]
    ENST00000479656; ENSP00000420071; ENSG00000137074. [Q7Z2E3-12]
    ENST00000482687; ENSP00000419289; ENSG00000137074. [Q7Z2E3-13]
    ENST00000485479; ENSP00000418144; ENSG00000137074. [Q7Z2E3-12]
    ENST00000494649; ENSP00000417634; ENSG00000137074. [Q7Z2E3-12]
    ENST00000495360; ENSP00000419623; ENSG00000137074. [Q7Z2E3-12]
    GeneIDi54840.
    KEGGihsa:54840.
    UCSCiuc003zrm.4. human. [Q7Z2E3-1]

    Organism-specific databases

    CTDi54840.
    DisGeNETi54840.
    GeneCardsiAPTX.
    GeneReviewsiAPTX.
    HGNCiHGNC:15984. APTX.
    HPAiHPA064930.
    MalaCardsiAPTX.
    MIMi208920. phenotype.
    606350. gene.
    neXtProtiNX_Q7Z2E3.
    OpenTargetsiENSG00000137074.
    Orphaneti1168. Ataxia - oculomotor apraxia type 1.
    PharmGKBiPA24915.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG0562. Eukaryota.
    KOG2134. Eukaryota.
    ENOG41102F4. LUCA.
    GeneTreeiENSGT00570000079163.
    HOGENOMiHOG000248858.
    HOVERGENiHBG050555.
    InParanoidiQ7Z2E3.
    KOiK10863.
    OMAiPGQVLHM.
    OrthoDBiEOG091G0KPQ.
    PhylomeDBiQ7Z2E3.
    TreeFamiTF313308.

    Enzyme and pathway databases

    SABIO-RKQ7Z2E3.
    SIGNORiQ7Z2E3.

    Miscellaneous databases

    ChiTaRSiAPTX. human.
    EvolutionaryTraceiQ7Z2E3.
    GeneWikiiAprataxin.
    GenomeRNAii54840.
    PROiQ7Z2E3.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000137074.
    CleanExiHS_APTX.
    ExpressionAtlasiQ7Z2E3. baseline and differential.
    GenevisibleiQ7Z2E3. HS.

    Family and domain databases

    Gene3Di2.60.200.20. 2 hits.
    3.30.428.10. 1 hit.
    InterProiIPR026963. Aprataxin.
    IPR000253. FHA_dom.
    IPR019808. Histidine_triad_CS.
    IPR011146. HIT-like.
    IPR008984. SMAD_FHA_domain.
    IPR032566. Znf-C2HE.
    IPR007087. Znf_C2H2.
    [Graphical view]
    PANTHERiPTHR12486:SF4. PTHR12486:SF4. 1 hit.
    PfamiPF00498. FHA. 1 hit.
    PF16278. zf-C2HE. 1 hit.
    [Graphical view]
    SUPFAMiSSF49879. SSF49879. 1 hit.
    SSF54197. SSF54197. 1 hit.
    PROSITEiPS00892. HIT_1. 1 hit.
    PS51084. HIT_2. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiAPTX_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z2E3
    Secondary accession number(s): A8MTN4
    , D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: June 7, 2004
    Last modified: November 30, 2016
    This is version 145 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.