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Protein

Aprataxin

Gene

APTX

Organism
Homo sapiens (Human)
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 (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 Publications

Catalytic activityi

Adenosine-5'-diphospho-5'-(DNA) + H2O = AMP + phospho-5'-(DNA).1 Publication3 Publications
Adenosine-5'-diphospho-5'-(ribonucleotide)-(DNA) + H2O = AMP + 5'-phospho-(ribonucleotide)-(DNA).1 Publication3 Publications
(DNA)-3'-diphospho-5'-guanosine + H2O = (DNA)-3'-phosphate + GMP.By similarity

Kineticsi

  1. KM=18 µM for AppppA1 Publication
  2. KM=837.5 µM for AMP-NH21 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Active sitei274Tele-AMP-histidine intermediate1 Publication1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Zinc fingeri331 – 353C2H2-typePROSITE-ProRule annotation2 PublicationsAdd BLAST23

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

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

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000137074-MONOMER
    SABIO-RKiQ7Z2E3
    SIGNORiQ7Z2E3

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aprataxin (EC:3.1.11.71 Publication3 Publications, EC:3.1.12.2By similarity)
    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

    EuPathDBiHostDB:ENSG00000137074.18
    HGNCiHGNC:15984 APTX
    MIMi606350 gene
    neXtProtiNX_Q7Z2E3

    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

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Ataxia-oculomotor apraxia syndrome (AOA)8 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; impairs binding to adenosine-5'-diphospho-5'-(DNA) and deadenylation activity. 2 Publications1
    Natural variantiVAR_018795212A → V in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs748165574Ensembl.1
    Natural variantiVAR_018796213R → H in AOA. 1 PublicationCorresponds to variant dbSNP:rs150886026Ensembl.1
    Natural variantiVAR_018797215H → R in AOA. 1 PublicationCorresponds to variant dbSNP:rs121908133Ensembl.1
    Natural variantiVAR_018798220P → L in AOA. 2 PublicationsCorresponds to variant dbSNP:rs121908131Ensembl.1
    Natural variantiVAR_025365237L → P in AOA. 1 PublicationCorresponds to variant dbSNP:rs267606665Ensembl.1
    Natural variantiVAR_018799277V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant dbSNP:rs121908132Ensembl.1
    Natural variantiVAR_018800281D → G in AOA; heterozygous. 1
    Natural variantiVAR_018801293W → R in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs773393618Ensembl.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
    GeneReviewsiAPTX
    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
    ProteomicsDBi68945
    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]
    TopDownProteomicsiQ7Z2E3-5 [Q7Z2E3-5]

    PTM databases

    iPTMnetiQ7Z2E3
    PhosphoSitePlusiQ7Z2E3

    Expressioni

    Tissue specificityi

    Widely expressed; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300).4 Publications

    Gene expression databases

    BgeeiENSG00000137074 Expressed in 210 organ(s), highest expression level in testis
    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 (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 Publications

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sitei188Interaction with DNA substrate1 Publication1
    Sitei265Interaction with DNA substrate1 Publication1
    Sitei276Interaction with DNA substrate1 Publication1
    Sitei291Interaction with DNA substrate1 Publication1

    Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi120191, 27 interactors
    IntActiQ7Z2E3, 22 interactors
    MINTiQ7Z2E3
    STRINGi9606.ENSP00000369141

    Structurei

    Secondary structure

    1356
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    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
    Regioni207 – 211Interaction with DNA substrate1 Publication5
    Regioni269 – 270Interaction with DNA substrate1 Publication2

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Motifi126 – 131Nuclear localization signalCurated6
    Motifi272 – 276Histidine triad motifPROSITE-ProRule annotation1 Publication5

    Domaini

    The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.1 Publication
    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.

    Zinc finger

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Zinc fingeri331 – 353C2H2-typePROSITE-ProRule annotation2 PublicationsAdd BLAST23

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiKOG0562 Eukaryota
    KOG2134 Eukaryota
    ENOG41102F4 LUCA
    GeneTreeiENSGT00570000079163
    HOGENOMiHOG000248858
    HOVERGENiHBG050555
    InParanoidiQ7Z2E3
    KOiK10863
    OMAiTVRDGMP
    OrthoDBiEOG091G0KPQ
    PhylomeDBiQ7Z2E3
    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
    PF00498 FHA, 1 hit
    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

    Sequences (13+)i

    Sequence statusi: Complete.

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

    This entry has 13 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q7Z2E3-1) [UniParc]FASTAAdd to basket
    Also known as: Long1 Publication

    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.1 Publication
    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: Short1 Publication

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

    Note: Minor form.1 Publication
    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

    Computationally mapped potential isoform sequencesi

    There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    C9JZ40C9JZ40_HUMAN
    Aprataxin
    APTX
    216Annotation score:
    C9J8U3C9J8U3_HUMAN
    Aprataxin
    APTX
    155Annotation score:
    F8W6G5F8W6G5_HUMAN
    Aprataxin
    APTX
    198Annotation score:
    A0A0A0MRW7A0A0A0MRW7_HUMAN
    Aprataxin
    APTX
    336Annotation score:
    Q6JV79Q6JV79_HUMAN
    Aprataxin variant LP3E5
    APTX
    85Annotation score:
    E7EVB7E7EVB7_HUMAN
    Aprataxin
    APTX
    99Annotation score:
    F8WBD6F8WBD6_HUMAN
    Aprataxin
    APTX
    52Annotation score:
    E7EUY4E7EUY4_HUMAN
    Aprataxin
    APTX
    63Annotation score:
    F8WBM3F8WBM3_HUMAN
    Aprataxin
    APTX
    74Annotation score:

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_018794211K → Q in AOA; impairs binding to adenosine-5'-diphospho-5'-(DNA) and deadenylation activity. 2 Publications1
    Natural variantiVAR_018795212A → V in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs748165574Ensembl.1
    Natural variantiVAR_018796213R → H in AOA. 1 PublicationCorresponds to variant dbSNP:rs150886026Ensembl.1
    Natural variantiVAR_018797215H → R in AOA. 1 PublicationCorresponds to variant dbSNP:rs121908133Ensembl.1
    Natural variantiVAR_018798220P → L in AOA. 2 PublicationsCorresponds to variant dbSNP:rs121908131Ensembl.1
    Natural variantiVAR_025365237L → P in AOA. 1 PublicationCorresponds to variant dbSNP:rs267606665Ensembl.1
    Natural variantiVAR_018799277V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant dbSNP:rs121908132Ensembl.1
    Natural variantiVAR_018800281D → G in AOA; heterozygous. 1
    Natural variantiVAR_018801293W → R in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs773393618Ensembl.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 Genomic DNA No translation available.
    AL353717 Genomic DNA No translation available.
    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

    Similar proteinsi

    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 Genomic DNA No translation available.
    AL353717 Genomic DNA No translation available.
    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[»]
    6CVOX-ray2.40A/B179-356[»]
    6CVPX-ray2.00A/B179-356[»]
    6CVQX-ray1.65A/B179-354[»]
    6CVRX-ray1.88A/B179-356[»]
    6CVSX-ray2.11A/B179-356[»]
    6CVTX-ray2.94A/B179-356[»]
    ProteinModelPortaliQ7Z2E3
    SMRiQ7Z2E3
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120191, 27 interactors
    IntActiQ7Z2E3, 22 interactors
    MINTiQ7Z2E3
    STRINGi9606.ENSP00000369141

    PTM databases

    iPTMnetiQ7Z2E3
    PhosphoSitePlusiQ7Z2E3

    Polymorphism and mutation databases

    BioMutaiAPTX
    DMDMi48428038

    Proteomic databases

    EPDiQ7Z2E3
    MaxQBiQ7Z2E3
    PaxDbiQ7Z2E3
    PeptideAtlasiQ7Z2E3
    PRIDEiQ7Z2E3
    ProteomicsDBi68945
    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]
    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
    EuPathDBiHostDB:ENSG00000137074.18
    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
    OMAiTVRDGMP
    OrthoDBiEOG091G0KPQ
    PhylomeDBiQ7Z2E3
    TreeFamiTF313308

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000137074-MONOMER
    SABIO-RKiQ7Z2E3
    SIGNORiQ7Z2E3

    Miscellaneous databases

    ChiTaRSiAPTX human
    EvolutionaryTraceiQ7Z2E3
    GeneWikiiAprataxin
    GenomeRNAii54840
    PROiPR:Q7Z2E3
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000137074 Expressed in 210 organ(s), highest expression level in testis
    CleanExiHS_APTX
    ExpressionAtlasiQ7Z2E3 baseline and differential
    GenevisibleiQ7Z2E3 HS

    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
    PF00498 FHA, 1 hit
    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
    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 historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: June 7, 2004
    Last modified: October 10, 2018
    This is version 163 of the entry and version 2 of the sequence. See 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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