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Q9NQ11

- AT132_HUMAN

UniProt

Q9NQ11 - AT132_HUMAN

Protein

Probable cation-transporting ATPase 13A2

Gene

ATP13A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.1 Publication

    Catalytic activityi

    ATP + H2O = ADP + phosphate.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei513 – 51314-aspartylphosphate intermediateBy similarity
    Metal bindingi878 – 8781MagnesiumBy similarity
    Metal bindingi882 – 8821MagnesiumBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. cation-transporting ATPase activity Source: InterPro
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: IntAct

    GO - Biological processi

    1. cell death Source: UniProtKB-KW

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Protein family/group databases

    TCDBi3.A.3.10.7. the p-type atpase (p-atpase) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable cation-transporting ATPase 13A2 (EC:3.6.3.-)
    Gene namesi
    Name:ATP13A2
    Synonyms:PARK9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:30213. ATP13A2.

    Subcellular locationi

    Membrane By similarity; Multi-pass membrane protein By similarity. Lysosome 2 Publications

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. lysosomal membrane Source: UniProtKB
    3. lysosome Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821F → L in KRS. 1 Publication
    VAR_066019
    Natural varianti504 – 5041G → R in KRS. 1 Publication
    Corresponds to variant rs121918227 [ dbSNP | Ensembl ].
    VAR_058455
    Natural varianti877 – 8771G → R in KRS; found in two affected brothers also carrying C-481 in FBXO7. 1 Publication
    VAR_066020
    Natural varianti1059 – 10591L → R in KRS; the mutant protein is retained in the endoplasmic reticulum. 1 Publication
    VAR_066021
    Ceroid lipofuscinosis, neuronal, 12 (CLN12) [MIM:606693]: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti854 – 8541M → R in CLN12. 1 Publication
    VAR_070194

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis, Parkinsonism

    Organism-specific databases

    MIMi606693. phenotype.
    Orphaneti306674. Kufor-Rakeb syndrome.
    314632. Parkinsonim due to ATP13A2 deficiency.
    PharmGKBiPA134897221.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11801180Probable cation-transporting ATPase 13A2PRO_0000046423Add
    BLAST

    Proteomic databases

    MaxQBiQ9NQ11.
    PaxDbiQ9NQ11.
    PRIDEiQ9NQ11.

    PTM databases

    PhosphoSiteiQ9NQ11.

    Expressioni

    Tissue specificityi

    Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ9NQ11.
    BgeeiQ9NQ11.
    CleanExiHS_ATP13A2.
    GenevestigatoriQ9NQ11.

    Organism-specific databases

    HPAiCAB037111.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    AAK1Q2M2I82EBI-6308763,EBI-1383433
    BNIP3LO602382EBI-6308763,EBI-849893
    GAKO149762EBI-6308763,EBI-714707
    HDAC6Q9UBN72EBI-6308763,EBI-301697
    HSPA8P111422EBI-6308763,EBI-351896
    SYT11Q9BT882EBI-6308763,EBI-751770
    YIF1AO950702EBI-6308763,EBI-2799703

    Protein-protein interaction databases

    BioGridi116973. 49 interactions.
    IntActiQ9NQ11. 43 interactions.
    MINTiMINT-4781194.
    STRINGi9606.ENSP00000327214.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQ11.
    SMRiQ9NQ11. Positions 254-1033.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1212CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini35 – 4511ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini67 – 230164CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini254 – 2563ExtracellularSequence Analysis
    Topological domaini277 – 425149CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini446 – 45914ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini481 – 932452CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini953 – 96311ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini982 – 99716CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1019 – 104628ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1067 – 107913CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1098 – 111316ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1135 – 118046CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei13 – 3422HelicalSequence AnalysisAdd
    BLAST
    Transmembranei46 – 6621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei231 – 25323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei257 – 27620HelicalSequence AnalysisAdd
    BLAST
    Transmembranei426 – 44520HelicalSequence AnalysisAdd
    BLAST
    Transmembranei460 – 48021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei933 – 95220HelicalSequence AnalysisAdd
    BLAST
    Transmembranei964 – 98118HelicalSequence AnalysisAdd
    BLAST
    Transmembranei998 – 101821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1047 – 106620HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1080 – 109718HelicalSequence AnalysisAdd
    BLAST
    Transmembranei1114 – 113421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0474.
    HOGENOMiHOG000171813.
    HOVERGENiHBG065757.
    InParanoidiQ9NQ11.
    KOiK13526.
    OMAiWQLFTVQ.
    OrthoDBiEOG7B5WV2.
    PhylomeDBiQ9NQ11.
    TreeFamiTF300331.

    Family and domain databases

    Gene3Di2.70.150.10. 1 hit.
    3.40.1110.10. 2 hits.
    3.40.50.1000. 2 hits.
    InterProiIPR004014. ATPase_P-typ_cation-transptr_N.
    IPR006544. ATPase_P-typ_Cation_typ_V.
    IPR023299. ATPase_P-typ_cyto_domN.
    IPR018303. ATPase_P-typ_P_site.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view]
    PfamiPF00122. E1-E2_ATPase. 1 hit.
    PF12409. P5-ATPase. 1 hit.
    [Graphical view]
    PRINTSiPR00119. CATATPASE.
    SMARTiSM00831. Cation_ATPase_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsiTIGR01494. ATPase_P-type. 2 hits.
    TIGR01657. P-ATPase-V. 1 hit.
    PROSITEiPS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q9NQ11-1) [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

    MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY     50
    HVVVWMMAGI PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW 100
    QLFTVQVQTE AIGEGSLEPS PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK 150
    SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ AFYQVSLLDH GRSCDDVHRS 200
    RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY YGFQAFSIAL 250
    WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP 300
    GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI 350
    PVLKTALPEG LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF 400
    CTAKGGLVSS ILHPRPINFK FYKHSMKFVA ALSVLALLGT IYSIFILYRN 450
    RVPLNEIVIR ALDLVTVVVP PALPAAMTVC TLYAQSRLRR QGIFCIHPLR 500
    INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV PEPRRLPVGP 550
    LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL 600
    AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE 650
    AYVKGSPELV AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS 700
    LEAAQQLTRD TVEGDLSLLG LLVMRNLLKP QTTPVIQALR RTRIRAVMVT 750
    GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH PERGQPASLE FLPMESPTAV 800
    NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL LPKVLVQGTV 850
    FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA 900
    SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI 950
    LYTINTNLGD LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP 1000
    VLSSLLLQMV LVTGVQLGGY FLTLAQPWFV PLNRTVAAPD NLPNYENTVV 1050
    FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP FLVALALLSS VLVGLVLVPG 1100
    LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ CLPACLRRLR 1150
    PKRASKKRFK QLERELAEQP WPPLPAGPLR 1180
    Length:1,180
    Mass (Da):128,794
    Last modified:June 1, 2001 - v2
    Checksum:i98D13745D3B615BE
    GO
    Isoform B (identifier: Q9NQ11-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         155-159: Missing.
         805-843: Missing.
         1079-1180: VPFLVALALL...WPPLPAGPLR → ERARPVPPRL...PQLPSVLLSV

    Show »
    Length:1,158
    Mass (Da):125,977
    Checksum:i1A7D35DF1CD34396
    GO
    Isoform 3 (identifier: Q9NQ11-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         155-159: Missing.

    Show »
    Length:1,175
    Mass (Da):128,323
    Checksum:i6418CB82F086E30C
    GO

    Sequence cautioni

    The sequence CAA08912.1 differs from that shown. Reason: Frameshift at position 1054.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti322 – 3221Q → R in AAH30267. (PubMed:15489334)Curated
    Sequence conflicti855 – 8584APEQ → IPRA in CAA08912. 1 PublicationCurated
    Sequence conflicti861 – 8611E → V in CAA08912. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121T → M.1 Publication
    Corresponds to variant rs151117874 [ dbSNP | Ensembl ].
    VAR_058451
    Natural varianti49 – 491G → S.1 Publication
    Corresponds to variant rs56379718 [ dbSNP | Ensembl ].
    VAR_058452
    Natural varianti182 – 1821F → L in KRS. 1 Publication
    VAR_066019
    Natural varianti294 – 2941R → Q.1 Publication
    Corresponds to variant rs56367069 [ dbSNP | Ensembl ].
    VAR_058453
    Natural varianti389 – 3891P → L.1 Publication
    Corresponds to variant rs56275621 [ dbSNP | Ensembl ].
    VAR_058454
    Natural varianti504 – 5041G → R in KRS. 1 Publication
    Corresponds to variant rs121918227 [ dbSNP | Ensembl ].
    VAR_058455
    Natural varianti533 – 5331G → R in a patient with early onset Parkinson disease. 1 Publication
    VAR_058456
    Natural varianti578 – 5781V → G.1 Publication
    Corresponds to variant rs56186751 [ dbSNP | Ensembl ].
    VAR_058457
    Natural varianti746 – 7461A → T.1 Publication
    Corresponds to variant rs147277743 [ dbSNP | Ensembl ].
    VAR_058458
    Natural varianti762 – 7621R → W.1 Publication
    Corresponds to variant rs55635527 [ dbSNP | Ensembl ].
    VAR_058459
    Natural varianti776 – 7761V → I.1 Publication
    Corresponds to variant rs56170027 [ dbSNP | Ensembl ].
    VAR_058460
    Natural varianti854 – 8541M → R in CLN12. 1 Publication
    VAR_070194
    Natural varianti877 – 8771G → R in KRS; found in two affected brothers also carrying C-481 in FBXO7. 1 Publication
    VAR_066020
    Natural varianti946 – 9461I → F.1 Publication
    Corresponds to variant rs55708915 [ dbSNP | Ensembl ].
    VAR_058461
    Natural varianti1059 – 10591L → R in KRS; the mutant protein is retained in the endoplasmic reticulum. 1 Publication
    VAR_066021

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei155 – 1595Missing in isoform B and isoform 3. 4 PublicationsVSP_007310
    Alternative sequencei805 – 84339Missing in isoform B. 2 PublicationsVSP_007311Add
    BLAST
    Alternative sequencei1079 – 1180102VPFLV…AGPLR → ERARPVPPRLPAPPPAQAGL QEALQAAGTRAGRAALAAAA RRPPEVVQAHGHPRHWNSLP LSHQLDPSPATPPPPPPTSL RLATVYTPPPRPPPPWGSVD YCPLPWTIPRRGGSPQLPSV LLSV in isoform B. 2 PublicationsVSP_007312Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL354615 mRNA. Translation: CAB89728.1.
    AY461712 mRNA. Translation: AAR23423.1.
    AK290210 mRNA. Translation: BAF82899.1.
    AL049569 Genomic DNA. Translation: CAI20366.1.
    CH471134 Genomic DNA. Translation: EAW94825.1.
    CH471134 Genomic DNA. Translation: EAW94827.1.
    BC030267 mRNA. Translation: AAH30267.1.
    AL833966 mRNA. Translation: CAD38813.2.
    AJ009947 mRNA. Translation: CAA08912.1. Frameshift.
    CCDSiCCDS175.1. [Q9NQ11-1]
    CCDS44072.1. [Q9NQ11-2]
    CCDS44073.1. [Q9NQ11-3]
    RefSeqiNP_001135445.1. NM_001141973.2. [Q9NQ11-3]
    NP_001135446.1. NM_001141974.2. [Q9NQ11-2]
    NP_071372.1. NM_022089.3. [Q9NQ11-1]
    UniGeneiHs.128866.

    Genome annotation databases

    EnsembliENST00000326735; ENSP00000327214; ENSG00000159363. [Q9NQ11-1]
    ENST00000341676; ENSP00000341115; ENSG00000159363. [Q9NQ11-2]
    ENST00000452699; ENSP00000413307; ENSG00000159363. [Q9NQ11-3]
    GeneIDi23400.
    KEGGihsa:23400.
    UCSCiuc001baa.2. human. [Q9NQ11-1]
    uc001bab.2. human. [Q9NQ11-3]
    uc001bac.2. human.

    Polymorphism databases

    DMDMi14285364.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL354615 mRNA. Translation: CAB89728.1 .
    AY461712 mRNA. Translation: AAR23423.1 .
    AK290210 mRNA. Translation: BAF82899.1 .
    AL049569 Genomic DNA. Translation: CAI20366.1 .
    CH471134 Genomic DNA. Translation: EAW94825.1 .
    CH471134 Genomic DNA. Translation: EAW94827.1 .
    BC030267 mRNA. Translation: AAH30267.1 .
    AL833966 mRNA. Translation: CAD38813.2 .
    AJ009947 mRNA. Translation: CAA08912.1 . Frameshift.
    CCDSi CCDS175.1. [Q9NQ11-1 ]
    CCDS44072.1. [Q9NQ11-2 ]
    CCDS44073.1. [Q9NQ11-3 ]
    RefSeqi NP_001135445.1. NM_001141973.2. [Q9NQ11-3 ]
    NP_001135446.1. NM_001141974.2. [Q9NQ11-2 ]
    NP_071372.1. NM_022089.3. [Q9NQ11-1 ]
    UniGenei Hs.128866.

    3D structure databases

    ProteinModelPortali Q9NQ11.
    SMRi Q9NQ11. Positions 254-1033.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116973. 49 interactions.
    IntActi Q9NQ11. 43 interactions.
    MINTi MINT-4781194.
    STRINGi 9606.ENSP00000327214.

    Protein family/group databases

    TCDBi 3.A.3.10.7. the p-type atpase (p-atpase) superfamily.

    PTM databases

    PhosphoSitei Q9NQ11.

    Polymorphism databases

    DMDMi 14285364.

    Proteomic databases

    MaxQBi Q9NQ11.
    PaxDbi Q9NQ11.
    PRIDEi Q9NQ11.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000326735 ; ENSP00000327214 ; ENSG00000159363 . [Q9NQ11-1 ]
    ENST00000341676 ; ENSP00000341115 ; ENSG00000159363 . [Q9NQ11-2 ]
    ENST00000452699 ; ENSP00000413307 ; ENSG00000159363 . [Q9NQ11-3 ]
    GeneIDi 23400.
    KEGGi hsa:23400.
    UCSCi uc001baa.2. human. [Q9NQ11-1 ]
    uc001bab.2. human. [Q9NQ11-3 ]
    uc001bac.2. human.

    Organism-specific databases

    CTDi 23400.
    GeneCardsi GC01M017312.
    GeneReviewsi ATP13A2.
    HGNCi HGNC:30213. ATP13A2.
    HPAi CAB037111.
    MIMi 606693. phenotype.
    610513. gene.
    neXtProti NX_Q9NQ11.
    Orphaneti 306674. Kufor-Rakeb syndrome.
    314632. Parkinsonim due to ATP13A2 deficiency.
    PharmGKBi PA134897221.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0474.
    HOGENOMi HOG000171813.
    HOVERGENi HBG065757.
    InParanoidi Q9NQ11.
    KOi K13526.
    OMAi WQLFTVQ.
    OrthoDBi EOG7B5WV2.
    PhylomeDBi Q9NQ11.
    TreeFami TF300331.

    Miscellaneous databases

    ChiTaRSi ATP13A2. human.
    GeneWikii ATP13A2.
    GenomeRNAii 23400.
    NextBioi 45553.
    PROi Q9NQ11.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQ11.
    Bgeei Q9NQ11.
    CleanExi HS_ATP13A2.
    Genevestigatori Q9NQ11.

    Family and domain databases

    Gene3Di 2.70.150.10. 1 hit.
    3.40.1110.10. 2 hits.
    3.40.50.1000. 2 hits.
    InterProi IPR004014. ATPase_P-typ_cation-transptr_N.
    IPR006544. ATPase_P-typ_Cation_typ_V.
    IPR023299. ATPase_P-typ_cyto_domN.
    IPR018303. ATPase_P-typ_P_site.
    IPR008250. ATPase_P-typ_transduc_dom_A.
    IPR001757. Cation_transp_P_typ_ATPase.
    IPR023214. HAD-like_dom.
    [Graphical view ]
    Pfami PF00122. E1-E2_ATPase. 1 hit.
    PF12409. P5-ATPase. 1 hit.
    [Graphical view ]
    PRINTSi PR00119. CATATPASE.
    SMARTi SM00831. Cation_ATPase_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56784. SSF56784. 3 hits.
    SSF81660. SSF81660. 2 hits.
    TIGRFAMsi TIGR01494. ATPase_P-type. 2 hits.
    TIGR01657. P-ATPase-V. 1 hit.
    PROSITEi PS00154. ATPASE_E1_E2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Rhodes S., Huckle E.
      Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    2. "Homo sapiens putative ATPase (N-ATPase) mRNA."
      Liu J.-P., Li H.
      Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Thalamus.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
      Tissue: Brain and Fetus.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 705-1180 (ISOFORM A).
      Tissue: Amygdala.
    8. "YAC analysis and genes identification at a site of viral integration in the 1p36.1-36.2 chromosomal site."
      Casciano I., Volpi E.V., De Ambrosis A., Marchi J.M., Romani M.
      Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 855-1180 (ISOFORM B).
    9. "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase."
      Ramirez A., Heimbach A., Gruendemann J., Stiller B., Hampshire D., Cid L.P., Goebel I., Mubaidin A.F., Wriekat A.-L., Roeper J., Al-Din A., Hillmer A.M., Karsak M., Liss B., Woods C.G., Behrens M.I., Kubisch C.
      Nat. Genet. 38:1184-1191(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN KRS.
    10. Cited for: INVOLVEMENT IN KRS.
    11. "Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism."
      Park J.S., Mehta P., Cooper A.A., Veivers D., Heimbach A., Stiller B., Kubisch C., Fung V.S., Krainc D., Mackay-Sim A., Sue C.M.
      Hum. Mutat. 32:956-964(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, VARIANT KRS ARG-1059, CHARACTERIZATION OF VARIANT KRS ARG-1059.
    12. "PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity."
      Ramonet D., Podhajska A., Stafa K., Sonnay S., Trancikova A., Tsika E., Pletnikova O., Troncoso J.C., Glauser L., Moore D.J.
      Hum. Mol. Genet. 21:1725-1743(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    13. Cited for: VARIANT KRS ARG-504, VARIANTS MET-12 AND ARG-533.
    14. "PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype."
      Ning Y.P., Kanai K., Tomiyama H., Li Y., Funayama M., Yoshino H., Sato S., Asahina M., Kuwabara S., Takeda A., Hattori T., Mizuno Y., Hattori N.
      Neurology 70:1491-1493(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT KRS LEU-182.
    15. "Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore."
      Lin C.H., Tan E.K., Chen M.L., Tan L.C., Lim H.Q., Chen G.S., Wu R.M.
      Neurology 71:1727-1732(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT THR-746.
    16. Cited for: VARIANTS SER-49; GLN-294; LEU-389; GLY-578; TRP-762; ILE-776 AND PHE-946.
    17. Cited for: VARIANT KRS ARG-877.
    18. "Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis."
      Bras J., Verloes A., Schneider S.A., Mole S.E., Guerreiro R.J.
      Hum. Mol. Genet. 21:2646-2650(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CLN12 ARG-854.

    Entry informationi

    Entry nameiAT132_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQ11
    Secondary accession number(s): O75700
    , Q5JXY1, Q5JXY2, Q6S9Z9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 2001
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 132 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3