Reviewed, UniProtKB/Swiss-Prot Q9NQ11 (AT132_HUMAN)

Names and origin

Protein names

Recommended name:
    Probable cation-transporting ATPase 13A2
    EC=3.6.3.-

Gene names

Name:	ATP13A2
Synonyms:	PARK9

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1180 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	ATP + H2O = ADP + phosphate.
Subcellular location	Membrane; Multi-pass membrane protein By similarity.
Involvement in disease	Defects in ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS) [MIM:606693]; also known as Parkinson disease type 9 (PARK9). KRS is a rare hereditary disease with juvenile onset. In addition to typical signs of Parkinson disease, affected individuals show symptoms of more widespread neurodegeneration, including dementia. Ref.6
Sequence similarities	Belongs to the cation transport ATPase (P-type) family. Type V subfamily.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Parkinsonism
Domain	Transmembrane
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ATP biosynthetic process Inferred from electronic annotation. Source: InterPro cation transport Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism Inferred from electronic annotation. Source: InterPro magnesium ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform A (identifier: Q9NQ11-1)

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.

Isoform B (identifier: Q9NQ11-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1180	1180	Probable cation-transporting ATPase 13A2		PRO_0000046423
Regions
	Topological domain	1 – 12	12	Cytoplasmic Potential
	Transmembrane	13 – 34	22	Potential
	Topological domain	35 – 45	11	Extracellular Potential
	Transmembrane	46 – 66	21	Potential
	Topological domain	67 – 230	164	Cytoplasmic Potential
	Transmembrane	231 – 253	23	Potential
	Topological domain	254 – 256	3	Extracellular Potential
	Transmembrane	257 – 276	20	Potential
	Topological domain	277 – 425	149	Cytoplasmic Potential
	Transmembrane	426 – 445	20	Potential
	Topological domain	446 – 459	14	Extracellular Potential
	Transmembrane	460 – 480	21	Potential
	Topological domain	481 – 932	452	Cytoplasmic Potential
	Transmembrane	933 – 952	20	Potential
	Topological domain	953 – 963	11	Extracellular Potential
	Transmembrane	964 – 981	18	Potential
	Topological domain	982 – 997	16	Cytoplasmic Potential
	Transmembrane	998 – 1018	21	Potential
	Topological domain	1019 – 1046	28	Extracellular Potential
	Transmembrane	1047 – 1066	20	Potential
	Topological domain	1067 – 1079	13	Cytoplasmic Potential
	Transmembrane	1080 – 1097	18	Potential
	Topological domain	1098 – 1113	16	Extracellular Potential
	Transmembrane	1114 – 1134	21	Potential
	Topological domain	1135 – 1180	46	Cytoplasmic Potential
Sites
	Active site	513	1	4-aspartylphosphate intermediate By similarity
	Metal binding	878	1	Magnesium By similarity
	Metal binding	882	1	Magnesium By similarity
Natural variations
	Alternative sequence	155 – 159	5	Missing in isoform B.		VSP_007310
	Alternative sequence	805 – 843	39	Missing in isoform B.		VSP_007311
	Alternative sequence	1079 – 1180	102	VPFLV…AGPLR → ERARPVPPRLPAPPPAQAGL QEALQAAGTRAGRAALAAAA RRPPEVVQAHGHPRHWNSLP LSHQLDPSPATPPPPPPTSL RLATVYTPPPRPPPPWGSVD YC in isoform B.		VSP_007312
	Natural variant	12	1	T → M in a patient with early onset Parkinson disease. Ref.7		VAR_058451
	Natural variant	49	1	G → S: dbSNP rs56379718. Ref.9		VAR_058452
	Natural variant	294	1	R → Q: dbSNP rs56367069. Ref.9		VAR_058453
	Natural variant	389	1	P → L: dbSNP rs56275621. Ref.9		VAR_058454
	Natural variant	504	1	G → R in a patient with Kufor-Rakeb syndrome. Ref.7		VAR_058455
	Natural variant	533	1	G → R in a patient with early onset Parkinson disease. Ref.7		VAR_058456
	Natural variant	578	1	V → G: dbSNP rs56186751. Ref.9		VAR_058457
	Natural variant	746	1	A → T		VAR_058458
	Natural variant	762	1	R → W: dbSNP rs55635527. Ref.9		VAR_058459
	Natural variant	776	1	V → I: dbSNP rs56170027. Ref.9		VAR_058460
	Natural variant	946	1	I → F: dbSNP rs55708915. Ref.9		VAR_058461
Experimental info
	Sequence conflict	322	1	Q → R in AAH30267. Ref.3
	Sequence conflict	855 – 858	4	APEQ → IPRA in CAA08912. Ref.5
	Sequence conflict	861	1	E → V in CAA08912. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified June 1, 2001. Version 2. Checksum: 98D13745D3B615BE	FASTA	1,180	128,794
	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
	Isoform B. Checksum: E968C0813CE98167	FASTA	1,136	123,624
	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 SEEAKRVLRY YLFQGQRYIW IETQQAFYQV 190 200 210 220 230 240 SLLDHGRSCD DVHRSRHGLS LQDQMVRKAI YGPNVISIPV KSYPQLLVDE ALNPYYGFQA 250 260 270 280 290 300 FSIALWLADH YYWYALCIFL ISSISICLSL YKTRKQSQTL RDMVKLSMRV CVCRPGGEEE 310 320 330 340 350 360 WVDSSELVPG DCLVLPQEGG LMPCDAALVA GECMVNESSL TGESIPVLKT ALPEGLGPYC 370 380 390 400 410 420 AETHRRHTLF CGTLILQARA YVGPHVLAVV TRTGFCTAKG GLVSSILHPR PINFKFYKHS 430 440 450 460 470 480 MKFVAALSVL ALLGTIYSIF ILYRNRVPLN EIVIRALDLV TVVVPPALPA AMTVCTLYAQ 490 500 510 520 530 540 SRLRRQGIFC IHPLRINLGG KLQLVCFDKT GTLTEDGLDV MGVVPLKGQA FLPLVPEPRR 550 560 570 580 590 600 LPVGPLLRAL ATCHALSRLQ DTPVGDPMDL KMVESTGWVL EEEPAADSAF GTQVLAVMRP 610 620 630 640 650 660 PLWEPQLQAM EEPPVPVSVL HRFPFSSALQ RMSVVVAWPG ATQPEAYVKG SPELVAGLCN 670 680 690 700 710 720 PETVPTDFAQ MLQSYTAAGY RVVALASKPL PTVPSLEAAQ QLTRDTVEGD LSLLGLLVMR 730 740 750 760 770 780 NLLKPQTTPV IQALRRTRIR AVMVTGDNLQ TAVTVARGCG MVAPQEHLII VHATHPERGQ 790 800 810 820 830 840 PASLEFLPME SPTAVNGVKV LVQGTVFARM APEQKTELVC ELQKLQYCVG MCGDGANDCG 850 860 870 880 890 900 ALKAADVGIS LSQAEASVVS PFTSSMASIE CVPMVIREGR CSLDTSFSVF KYMALYSLTQ 910 920 930 940 950 960 FISVLILYTI NTNLGDLQFL AIDLVITTTV AVLMSRTGPA LVLGRVRPPG ALLSVPVLSS 970 980 990 1000 1010 1020 LLLQMVLVTG VQLGGYFLTL AQPWFVPLNR TVAAPDNLPN YENTVVFSLS SFQYLILAAA 1030 1040 1050 1060 1070 1080 VSKGAPFRRP LYTNERARPV PPRLPAPPPA QAGLQEALQA AGTRAGRAAL AAAARRPPEV 1090 1100 1110 1120 1130 VQAHGHPRHW NSLPLSHQLD PSPATPPPPP PTSLRLATVY TPPPRPPPPW GSVDYC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Rhodes S., Huckle E. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
[2]	"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: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). Tissue: Brain and Fetus.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 705-1180 (ISOFORM A). Tissue: Amygdala.
[5]	"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).
[6]	"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: 16964263] [Abstract] Cited for: INVOLVEMENT IN KRS.
[7]	"ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease." Di Fonzo A., Chien H.F., Socal M., Giraudo S., Tassorelli C., Iliceto G., Fabbrini G., Marconi R., Fincati E., Abbruzzese G., Marini P., Squitieri F., Horstink M.W., Montagna P., Libera A.D., Stocchi F., Goldwurm S., Ferreira J.J. , Meco G., Martignoni E., Lopiano L., Jardim L.B., Oostra B.A., Barbosa E.R., Bonifati V. Neurology 68:1557-1562(2007) [PubMed: 17485642] [Abstract] Cited for: VARIANTS MET-12; ARG-504 AND ARG-533.
[8]	"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: 19015489] [Abstract] Cited for: VARIANT THR-746.
[9]	"ATP13A2 variability in Parkinson disease." Vilarino-Guell C., Soto A.I., Lincoln S.J., Ben Yahmed S., Kefi M., Heckman M.G., Hulihan M.M., Chai H., Diehl N.N., Amouri R., Rajput A., Mash D.C., Dickson D.W., Middleton L.T., Gibson R.A., Hentati F., Farrer M.J. Hum. Mutat. 30:406-410(2009) [PubMed: 19085912] [Abstract] Cited for: VARIANTS SER-49; GLN-294; LEU-389; GLY-578; TRP-762; ILE-776 AND PHE-946.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL354615 mRNA. Translation: CAB89728.1. AL049569 Genomic DNA. Translation: CAI20366.1. BC030267 mRNA. Translation: AAH30267.1. AL833966 mRNA. Translation: CAD38813.2. AJ009947 mRNA. Translation: CAA08912.1.
IPI	IPI00015154. IPI00177535.
RefSeq	NP_001135446.1. NP_071372.1.
UniGene	Hs.128866
3D structure databases
SMR	Q9NQ11. Positions 192-1082.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NQ11.
Protein family/group databases
TCDB	3.A.3.13.1. P-type ATPase (P-ATPase) superfamily.
Proteomic databases
PRIDE	Q9NQ11.
Genome annotation databases
Ensembl	ENST00000326735; ENSP00000327214; ENSG00000159363; Homo sapiens. [Genome view]
GeneID	23400.
NMPDR	fig|9606.3.peg.408.
UCSC	uc001baa.1. human.
Organism-specific databases
CTD	23400.
GeneCards	GC01M017185.
HGNC	HGNC:30213. ATP13A2.
MIM	606693. phenotype. 610513. gene.
Orphanet	2828. Parkinson disease, genetic type.
PharmGKB	PA134897221.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06544.
HOGENOM	HBG735026.
HOVERGEN	Q9NQ11.
InParanoid	Q9NQ11.
OMA	FCTAKGG.
PhylomeDB	Q9NQ11.
Gene expression databases
ArrayExpress	Q9NQ11.
Bgee	Q9NQ11.
CleanEx	HS_ATP13A2.
Genevestigator	Q9NQ11.
GermOnline	ENSG00000159363. Homo sapiens.
Family and domain databases
InterPro	IPR008250. ATPase_P-typ_ATPase-assoc-dom. IPR004014. ATPase_P-typ_cation-transptr_N. IPR001757. ATPase_P-typ_ion-transptr. IPR018303. ATPase_P-typ_P_site. IPR006544. ATPase_P-typ_unknown-pump-sp. IPR005834. Dehalogen-like_hydro. [Graphical view]
PANTHER	PTHR11939. ATPase_P. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. PF00702. Hydrolase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
SMART	SM00831. Cation_ATPase_N. 1 hit. [Graphical view]
TIGRFAMs	TIGR01494. ATPase_P-type. 2 hits. TIGR01657. P-ATPase-V. 1 hit.
PROSITE	PS00154. ATPASE_E1_E2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	45553.
SOURCE	Search...

Entry information

Entry name

AT132_HUMAN

Accession

Primary (citable) accession number: Q9NQ11
Secondary accession number(s): O75700, Q5JXY2

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 2001
Last sequence update:	June 1, 2001
Last modified:	February 9, 2010
This is version 83 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.