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UniProtKB/Swiss-Prot entry Q9NQ11


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name AT132_HUMAN
Primary accession number Q9NQ11
Secondary accession numbers O75700 Q5JXY2
Integrated into Swiss-Prot on June 1, 2001
Sequence was last modified on June 1, 2001 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 73)
Name and origin of the protein
Protein name Probable cation-transporting ATPase 13A2
Synonym EC 3.6.3.-
Gene name
Name: ATP13A2
Synonyms: PARK9
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
Rhodes S., Huckle E.;
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
TISSUE=Brain, and Fetus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 705-1180 (ISOFORM A).
TISSUE=Amygdala;
DOI=10.1186/1471-2164-8-399; PubMed=17974005 [NCBI, ExPASy, EBI, Israel, Japan]
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 855-1180 (ISOFORM B).
Casciano I., Volpi E.V., De Ambrosis A., Marchi J.M., Romani M.;
"YAC analysis and genes identification at a site of viral integration in the 1p36.1-36.2 chromosomal site.";
Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases.
[6]
INVOLVEMENT IN KRS.
DOI=10.1038/ng1884; PubMed=16964263 [NCBI, ExPASy, EBI, Israel, Japan]
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.;
"Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.";
Nat. Genet. 38:1184-1191(2006).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AL354615; CAB89728.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL049569; CAI20366.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC030267; AAH30267.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL833966; CAD38813.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ009947; CAA08912.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00015154; -.
IPI00177535; -.
RefSeq NP_001135446.1; -.
NP_071372.1; -.
UniGene Hs.128866
3D structure databases
ModBase Q9NQ11.
Protein family/group databases
TCDB 3.A.3.13.1; P-type ATPase (P-ATPase) superfamily.
Organism-specific databases
GeneCards GC01M017185; -.
HGNC HGNC:30213; ATP13A2.
GenAtlas ATP13A2.
MIM 606693; phenotype. [NCBI / EBI]
610513; gene. [NCBI / EBI]
Orphanet 2828; Parkinson disease, genetic types.
PharmGKB PA134897221; -.
Gene expression databases
ArrayExpress Q9NQ11; -.
Bgee Q9NQ11; -.
CleanEx HS_ATP13A2; -.
GermOnline ENSG00000159363; Homo sapiens.
Ontologies
GO
GO:0016021; Cellular component: integral to membrane (inferred from electronic annotation from UniProtKB-KW).
GO:0005524; Molecular function: ATP binding (inferred from electronic annotation from UniProtKB-KW).
GO:0015662; Molecular function: ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism (inferred from electronic annotation from InterPro).
GO:0000287; Molecular function: magnesium ion binding (inferred from electronic annotation from UniProtKB-KW).
GO:0006754; Biological process: ATP biosynthetic process (inferred from electronic annotation from InterPro).
GO:0006812; Biological process: cation transport (inferred from electronic annotation from InterPro).
QuickGo view.
Family and domain databases
InterPro IPR008250; ATPase_P-typ_ATPase-assoc-reg.
IPR001757; ATPase_P-typ_ion-transptr.
IPR018303; ATPase_P-typ_phosphor_site.
IPR006544; ATPase_P-typ_unknown-pump-sp.
IPR005834; Dehalogen-like_hydro.
Graphical view of domain structure.
PANTHER PTHR11939; ATPase_P; 1.
Pfam PF00122; E1-E2_ATPase; 1.
PF00702; Hydrolase; 1.
Pfam graphical view of domain structure.
PRINTS PR00119; CATATPASE.
TIGRFAMs TIGR01494; ATPase_P-type; 2.
TIGR01657; P-ATPase-V; 1.
PROSITE PS00154; ATPASE_E1_E2; 1.
Proteomic databases
PRIDE Q9NQ11; -.
Genome annotation databases
Ensembl ENSG00000159363; Homo sapiens. [Contig view]
GeneID 23400; -.
KEGG hsa:23400; -.
NMPDR fig|9606.3.peg.408; -.
Phylogenomic databases
HOGENOM Q9NQ11; -.
HOVERGEN Q9NQ11; -.
OMA Q9NQ11; FCTAKGG.
Other
NextBio 45553; -.
SOURCE ATP13A2; Homo sapiens.
ProtoNet Q9NQ11.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; ATP-binding; Hydrolase; Magnesium; Membrane; Metal-binding; Nucleotide-binding; Phosphoprotein; Transmembrane.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1180  1180     Probable cation-transporting ATPase 13A2. PRO_0000046423
TOPO_DOM   1     12  12     Cytoplasmic (Potential). 
TRANSMEM   13     34  22     Potential. 
TOPO_DOM   35     45  11     Extracellular (Potential). 
TRANSMEM   46     66  21     Potential. 
TOPO_DOM   67    230  164     Cytoplasmic (Potential). 
TRANSMEM   231    253  23     Potential. 
TOPO_DOM   254    256  3     Extracellular (Potential). 
TRANSMEM   257    276  20     Potential. 
TOPO_DOM   277    425  149     Cytoplasmic (Potential). 
TRANSMEM   426    445  20     Potential. 
TOPO_DOM   446    459  14     Extracellular (Potential). 
TRANSMEM   460    480  21     Potential. 
TOPO_DOM   481    932  452     Cytoplasmic (Potential). 
TRANSMEM   933    952  20     Potential. 
TOPO_DOM   953    963  11     Extracellular (Potential). 
TRANSMEM   964    981  18     Potential. 
TOPO_DOM   982    997  16     Cytoplasmic (Potential). 
TRANSMEM   998   1018  21     Potential. 
TOPO_DOM   1019   1046  28     Extracellular (Potential). 
TRANSMEM   1047   1066  20     Potential. 
TOPO_DOM   1067   1079  13     Cytoplasmic (Potential). 
TRANSMEM   1080   1097  18     Potential. 
TOPO_DOM   1098   1113  16     Extracellular (Potential). 
TRANSMEM   1114   1134  21     Potential. 
TOPO_DOM   1135   1180  46     Cytoplasmic (Potential). 
ACT_SITE   513    513        4-aspartylphosphate intermediate (By similarity). 
METAL   878    878        Magnesium (By similarity). 
METAL   882    882        Magnesium (By similarity). 
VAR_SEQ   155    159        Missing (in isoform B). VSP_007310
VAR_SEQ   805    843        Missing (in isoform B). VSP_007311
VAR_SEQ   1079   1180        VPFLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKL LLLGLVTLNFVGAFMLESVLDQCLPACLRRLRPKRASKKR FKQLERELAEQPWPPLPAGPLR -> ERARPVPPRLPAPPPAQAGLQEALQAAGTRAGRAALAAAA RRPPEVVQAHGHPRHWNSLPLSHQLDPSPATPPPPPPTSL RLATVYTPPPRPPPPWGSVDYC (in isoform B). VSP_007312
CONFLICT   322    322        Q -> R (in Ref. 3; AAH30267). 
CONFLICT   855    855        A -> I (in Ref. 5). 
CONFLICT   857    858        EQ -> RA (in Ref. 5). 
CONFLICT   861    861        E -> V (in Ref. 5). 
Sequence information
Length: 1180 AA [This is the length of the unprocessed precursor] Molecular weight: 128794 Da [This is the MW of the unprocessed precursor] CRC64: 98D13745D3B615BE [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI 

        70         80         90        100        110        120 
PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS 

       130        140        150        160        170        180 
PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ 

       190        200        210        220        230        240 
AFYQVSLLDH GRSCDDVHRS RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY 

       250        260        270        280        290        300 
YGFQAFSIAL WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP 

       310        320        330        340        350        360 
GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI PVLKTALPEG 

       370        380        390        400        410        420 
LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF CTAKGGLVSS ILHPRPINFK 

       430        440        450        460        470        480 
FYKHSMKFVA ALSVLALLGT IYSIFILYRN RVPLNEIVIR ALDLVTVVVP PALPAAMTVC 

       490        500        510        520        530        540 
TLYAQSRLRR QGIFCIHPLR INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV 

       550        560        570        580        590        600 
PEPRRLPVGP LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL 

       610        620        630        640        650        660 
AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE AYVKGSPELV 

       670        680        690        700        710        720 
AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS LEAAQQLTRD TVEGDLSLLG 

       730        740        750        760        770        780 
LLVMRNLLKP QTTPVIQALR RTRIRAVMVT GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH 

       790        800        810        820        830        840 
PERGQPASLE FLPMESPTAV NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL 

       850        860        870        880        890        900 
LPKVLVQGTV FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA 

       910        920        930        940        950        960 
SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI LYTINTNLGD 

       970        980        990       1000       1010       1020 
LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP VLSSLLLQMV LVTGVQLGGY 

      1030       1040       1050       1060       1070       1080 
FLTLAQPWFV PLNRTVAAPD NLPNYENTVV FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP 

      1090       1100       1110       1120       1130       1140 
FLVALALLSS VLVGLVLVPG LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ 

      1150       1160       1170       1180 
CLPACLRRLR PKRASKKRFK QLERELAEQP WPPLPAGPLR 

Q9NQ11 in FASTA format

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