Q9NQ11 (AT132_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

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

General annotation (Comments)

Function	May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity. Ref.12
Catalytic activity	ATP + H2O = ADP + phosphate.
Subcellular location	Membrane; Multi-pass membrane protein By similarity. Lysosome Ref.11 Ref.12.
Tissue specificity	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). Ref.12
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11 Ref.13 Ref.14 Ref.17
Sequence similarities	Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily. [View classification]

Ontologies

Keywords
Cellular component	Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Parkinsonism
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW lysosome Inferred from direct assay Ref.11. Source: UniProtKB
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW cation-transporting ATPase activity Inferred from electronic annotation. Source: InterPro metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
AAK1	Q2M2I8	2	EBI-6308763,EBI-1383433
BNIP3L	O60238	2	EBI-6308763,EBI-849893
GAK	O14976	2	EBI-6308763,EBI-714707
HDAC6	Q9UBN7	2	EBI-6308763,EBI-301697
HSPA8	P11142	2	EBI-6308763,EBI-351896
SYT11	Q9BT88	2	EBI-6308763,EBI-751770
YIF1A	O95070	2	EBI-6308763,EBI-2799703

Alternative products

This entry describes 3 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.

Isoform 3 (identifier: Q9NQ11-3)

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

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	Helical; Potential
	Topological domain	35 – 45	11	Extracellular Potential
	Transmembrane	46 – 66	21	Helical; Potential
	Topological domain	67 – 230	164	Cytoplasmic Potential
	Transmembrane	231 – 253	23	Helical; Potential
	Topological domain	254 – 256	3	Extracellular Potential
	Transmembrane	257 – 276	20	Helical; Potential
	Topological domain	277 – 425	149	Cytoplasmic Potential
	Transmembrane	426 – 445	20	Helical; Potential
	Topological domain	446 – 459	14	Extracellular Potential
	Transmembrane	460 – 480	21	Helical; Potential
	Topological domain	481 – 932	452	Cytoplasmic Potential
	Transmembrane	933 – 952	20	Helical; Potential
	Topological domain	953 – 963	11	Extracellular Potential
	Transmembrane	964 – 981	18	Helical; Potential
	Topological domain	982 – 997	16	Cytoplasmic Potential
	Transmembrane	998 – 1018	21	Helical; Potential
	Topological domain	1019 – 1046	28	Extracellular Potential
	Transmembrane	1047 – 1066	20	Helical; Potential
	Topological domain	1067 – 1079	13	Cytoplasmic Potential
	Transmembrane	1080 – 1097	18	Helical; Potential
	Topological domain	1098 – 1113	16	Extracellular Potential
	Transmembrane	1114 – 1134	21	Helical; 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 and isoform 3.		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. Ref.13 Corresponds to variant rs151117874 [ dbSNP | Ensembl ].		VAR_058451
	Natural variant	49	1	G → S. Ref.16 Corresponds to variant rs56379718 [ dbSNP | Ensembl ].		VAR_058452
	Natural variant	182	1	F → L in KRS. Ref.14		VAR_066019
	Natural variant	294	1	R → Q. Ref.16 Corresponds to variant rs56367069 [ dbSNP | Ensembl ].		VAR_058453
	Natural variant	389	1	P → L. Ref.16 Corresponds to variant rs56275621 [ dbSNP | Ensembl ].		VAR_058454
	Natural variant	504	1	G → R in KRS. Ref.13 Corresponds to variant rs121918227 [ dbSNP | Ensembl ].		VAR_058455
	Natural variant	533	1	G → R in a patient with early onset Parkinson disease. Ref.13		VAR_058456
	Natural variant	578	1	V → G. Ref.16 Corresponds to variant rs56186751 [ dbSNP | Ensembl ].		VAR_058457
	Natural variant	746	1	A → T. Ref.15 Corresponds to variant rs147277743 [ dbSNP | Ensembl ].		VAR_058458
	Natural variant	762	1	R → W. Ref.16 Corresponds to variant rs55635527 [ dbSNP | Ensembl ].		VAR_058459
	Natural variant	776	1	V → I. Ref.16 Corresponds to variant rs56170027 [ dbSNP | Ensembl ].		VAR_058460
	Natural variant	877	1	G → R in KRS; found in two affected brothers also carrying C-481 in FBXO7. Ref.17		VAR_066020
	Natural variant	946	1	I → F. Ref.16 Corresponds to variant rs55708915 [ dbSNP | Ensembl ].		VAR_058461
	Natural variant	1059	1	L → R in KRS; the mutant protein is retained in the endoplasmic reticulum. Ref.11		VAR_066021
Experimental info
	Sequence conflict	322	1	Q → R in AAH30267. Ref.6
	Sequence conflict	855 – 858	4	APEQ → IPRA in CAA08912. Ref.8
	Sequence conflict	861	1	E → V in CAA08912. Ref.8

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 [UniParc]. 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
	Isoform 3 [UniParc]. Checksum: 6418CB82F086E30C	FASTA	1,175	128,323
	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 SPTAVNGVKD PDQAASYTVE PDPRSRHLAL SGPTFGIIVK HFPKLLPKVL 850 860 870 880 890 900 VQGTVFARMA PEQKTELVCE LQKLQYCVGM CGDGANDCGA LKAADVGISL SQAEASVVSP 910 920 930 940 950 960 FTSSMASIEC VPMVIREGRC SLDTSFSVFK YMALYSLTQF ISVLILYTIN TNLGDLQFLA 970 980 990 1000 1010 1020 IDLVITTTVA VLMSRTGPAL VLGRVRPPGA LLSVPVLSSL LLQMVLVTGV QLGGYFLTLA 1030 1040 1050 1060 1070 1080 QPWFVPLNRT VAAPDNLPNY ENTVVFSLSS FQYLILAAAV SKGAPFRRPL YTNVPFLVAL 1090 1100 1110 1120 1130 1140 ALLSSVLVGL VLVPGLLQGP LALRNITDTG FKLLLLGLVT LNFVGAFMLE SVLDQCLPAC 1150 1160 1170 LRRLRPKRAS KKRFKQLERE LAEQPWPPLP AGPLR

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]	"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]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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]	"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] [Europe PMC] [Abstract] 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]	"Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations." Behrens M.I., Bruggemann N., Chana P., Venegas P., Kagi M., Parrao T., Orellana P., Garrido C., Rojas C.V., Hauke J., Hahnen E., Gonzalez R., Seleme N., Fernandez V., Schmidt A., Binkofski F., Kompf D., Kubisch C. , Hagenah J., Klein C., Ramirez A. Mov. Disord. 25:1929-1937(2010) [PubMed] [Europe PMC] [Abstract] 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]	"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] [Europe PMC] [Abstract] 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]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS SER-49; GLN-294; LEU-389; GLY-578; TRP-762; ILE-776 AND PHE-946.
[17]	"Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability." Santoro L., Breedveld G.J., Manganelli F., Iodice R., Pisciotta C., Nolano M., Punzo F., Quarantelli M., Pappata S., Di Fonzo A., Oostra B.A., Bonifati V. Neurogenetics 12:33-39(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT KRS ARG-877.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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: EAW94827.1. BC030267 mRNA. Translation: AAH30267.1. AL833966 mRNA. Translation: CAD38813.2. AJ009947 mRNA. Translation: CAA08912.1.
IPI	IPI00015154. IPI00177535. IPI00915298.
RefSeq	NP_001135445.1. NM_001141973.1. NP_001135446.1. NM_001141974.1. NP_071372.1. NM_022089.2.
UniGene	Hs.128866.
3D structure databases
ProteinModelPortal	Q9NQ11.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NQ11. 42 interactions.
STRING	9606.ENSP00000327214.
Protein family/group databases
TCDB	3.A.3.13.1. P-type ATPase (P-ATPase) superfamily.
PTM databases
PhosphoSite	Q9NQ11.
Polymorphism databases
DMDM	14285364.
Proteomic databases
PaxDb	Q9NQ11.
PRIDE	Q9NQ11.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326735; ENSP00000327214; ENSG00000159363. ENST00000452699; ENSP00000413307; ENSG00000159363.
GeneID	23400.
KEGG	hsa:23400.
UCSC	uc001baa.2. human.
Organism-specific databases
CTD	23400.
GeneCards	GC01M017312.
HGNC	HGNC:30213. ATP13A2.
HPA	CAB037111.
MIM	606693. phenotype. 610513. gene.
neXtProt	NX_Q9NQ11.
Orphanet	2828. Young adult-onset Parkinsonism.
PharmGKB	PA134897221.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0474.
HOGENOM	HOG000171813.
HOVERGEN	HBG065757.
InParanoid	Q9NQ11.
KO	K13526.
OMA	FRWKPLW.
OrthoDB	EOG4M0F0W.
PhylomeDB	Q9NQ11.
Gene expression databases
ArrayExpress	Q9NQ11.
Bgee	Q9NQ11.
CleanEx	HS_ATP13A2.
Genevestigator	Q9NQ11.
GermOnline	ENSG00000159363. Homo sapiens.
Family and domain databases
Gene3D	2.70.150.10. 1 hit. 3.40.1110.10. 2 hits. 3.40.50.1000. 2 hits.
InterPro	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]
PANTHER	PTHR24093. PTHR24093. 1 hit.
Pfam	PF00122. E1-E2_ATPase. 1 hit. PF12409. P5-ATPase. 1 hit. [Graphical view]
PRINTS	PR00119. CATATPASE.
SMART	SM00831. Cation_ATPase_N. 1 hit. [Graphical view]
SUPFAM	SSF81660. ATPase_cation_domN. 1 hit. SSF56784. HAD-like_dom. 1 hit.
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
ChiTaRS	ATP13A2. human.
GenomeRNAi	23400.
NextBio	45553.
SOURCE	Search...

Entry information

Entry name

AT132_HUMAN

Accession

Primary (citable) accession number: Q9NQ11
Secondary accession number(s): O75700, Q5JXY2, Q6S9Z9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 2001
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 116 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.