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3.A.3.10.7
This protein was orginally designated the functionally uncharacterized P-type ATPase, FUPA13 (Thever and Saier 2009).  It is the Parkinson''s disease (PD) gene product, PARK9, and its defect gives rise to multiple abnormalities (Dehay et al. 2012).  It is similar to the probable manganese exporter in yeast, Ypk1 (TC# 3.A.3.10.8), and may have the same function, but in lysosomes. Toxic levels of manganese cause a syndrome simiilar to PD (Chesi et al. 2012).

Accession Number:Q9NQ11
Protein Name:Probable cation-transporting ATPase 13A2 aka FUPA13a
Length:1180
Molecular Weight:128794.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2

Cross database links:

Genevestigator: Q9NQ11
eggNOG: prNOG06544
HEGENOM: HBG735026
RefSeq: NP_001135446.1    NP_071372.1   
Entrez Gene ID: 23400   
Pfam: PF00122    PF00702   
OMIM: 606693  phenotype
610513  gene

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005524 F:ATP binding
GO:0015662 F:ATPase activity, coupled to transmembrane m...
GO:0046872 F:metal ion binding
GO:0006754 P:ATP biosynthetic process
GO:0006812 P:cation transport

References (7)

[1] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[2] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[3] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[4] “Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.”  Ramirez A.et.al.   16964263
[5] “ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.”  Di Fonzo A.et.al.   17485642
[6] “Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.”  Lin C.H.et.al.   19015489
[7] “ATP13A2 variability in Parkinson disease.”  Vilarino-Guell C.et.al.   19085912

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
FASTA formatted sequence
1:	MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI 
61:	PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS 
121:	PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ 
181:	AFYQVSLLDH GRSCDDVHRS RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY 
241:	YGFQAFSIAL WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP 
301:	GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI PVLKTALPEG 
361:	LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF CTAKGGLVSS ILHPRPINFK 
421:	FYKHSMKFVA ALSVLALLGT IYSIFILYRN RVPLNEIVIR ALDLVTVVVP PALPAAMTVC 
481:	TLYAQSRLRR QGIFCIHPLR INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV 
541:	PEPRRLPVGP LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL 
601:	AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE AYVKGSPELV 
661:	AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS LEAAQQLTRD TVEGDLSLLG 
721:	LLVMRNLLKP QTTPVIQALR RTRIRAVMVT GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH 
781:	PERGQPASLE FLPMESPTAV NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL 
841:	LPKVLVQGTV FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA 
901:	SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI LYTINTNLGD 
961:	LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP VLSSLLLQMV LVTGVQLGGY 
1021:	FLTLAQPWFV PLNRTVAAPD NLPNYENTVV FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP 
1081:	FLVALALLSS VLVGLVLVPG LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ 
1141:	CLPACLRRLR PKRASKKRFK QLERELAEQP WPPLPAGPLR