Details for: ATP13A2
Associated with
Other Information
Genular Protein ID: 1342514249
Symbol: AT132_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 22186024
Title: PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
PubMed ID: 22186024
DOI: 10.1093/hmg/ddr606
PubMed ID: 16964263
Title: Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
PubMed ID: 16964263
DOI: 10.1038/ng1884
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24603074
Title: Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes alpha-Synuclein externalization via exosomes.
PubMed ID: 24603074
DOI: 10.1093/hmg/ddu099
PubMed ID: 25392495
Title: ATP13A2/PARK9 regulates secretion of exosomes and alpha-synuclein.
PubMed ID: 25392495
PubMed ID: 26134396
Title: A lipid switch unlocks Parkinson's disease-associated ATP13A2.
PubMed ID: 26134396
PubMed ID: 31132336
Title: The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.
PubMed ID: 31132336
PubMed ID: 30538141
Title: ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.
PubMed ID: 30538141
PubMed ID: 31996848
Title: ATP13A2 deficiency disrupts lysosomal polyamine export.
PubMed ID: 31996848
PubMed ID: 17485642
Title: ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
PubMed ID: 17485642
PubMed ID: 18413573
Title: PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.
PubMed ID: 18413573
PubMed ID: 19015489
Title: Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.
PubMed ID: 19015489
PubMed ID: 19085912
PubMed ID: 20683840
Title: Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.
PubMed ID: 20683840
DOI: 10.1002/mds.22996
PubMed ID: 21542062
Title: Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.
PubMed ID: 21542062
DOI: 10.1002/humu.21527
PubMed ID: 20853184
Title: Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
PubMed ID: 20853184
PubMed ID: 22388936
Title: Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
PubMed ID: 22388936
DOI: 10.1093/hmg/dds089
PubMed ID: 22296644
Title: ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
PubMed ID: 22296644
PubMed ID: 22768177
Title: Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
PubMed ID: 22768177
PubMed ID: 27278822
Title: The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway.
PubMed ID: 27278822
DOI: 10.1038/ncomms11803
PubMed ID: 27217339
Title: Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PubMed ID: 27217339
DOI: 10.1093/brain/aww111
PubMed ID: 28137957
Title: Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
PubMed ID: 28137957
DOI: 10.1093/brain/aww307
PubMed ID: 29903538
Title: ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.
PubMed ID: 29903538
Sequence Information:
- Length: 1180
- Mass: 128794
- Checksum: 98D13745D3B615BE
- Sequence:
MSADSSPLVG STPTGYGTLT IGTSIDPLSS SVSSVRLSGY CGSPWRVIGY HVVVWMMAGI PLLLFRWKPL WGVRLRLRPC NLAHAETLVI EIRDKEDSSW QLFTVQVQTE AIGEGSLEPS PQSQAEDGRS QAAVGAVPEG AWKDTAQLHK SEEAVSVGQK RVLRYYLFQG QRYIWIETQQ AFYQVSLLDH GRSCDDVHRS RHGLSLQDQM VRKAIYGPNV ISIPVKSYPQ LLVDEALNPY YGFQAFSIAL WLADHYYWYA LCIFLISSIS ICLSLYKTRK QSQTLRDMVK LSMRVCVCRP GGEEEWVDSS ELVPGDCLVL PQEGGLMPCD AALVAGECMV NESSLTGESI PVLKTALPEG LGPYCAETHR RHTLFCGTLI LQARAYVGPH VLAVVTRTGF CTAKGGLVSS ILHPRPINFK FYKHSMKFVA ALSVLALLGT IYSIFILYRN RVPLNEIVIR ALDLVTVVVP PALPAAMTVC TLYAQSRLRR QGIFCIHPLR INLGGKLQLV CFDKTGTLTE DGLDVMGVVP LKGQAFLPLV PEPRRLPVGP LLRALATCHA LSRLQDTPVG DPMDLKMVES TGWVLEEEPA ADSAFGTQVL AVMRPPLWEP QLQAMEEPPV PVSVLHRFPF SSALQRMSVV VAWPGATQPE AYVKGSPELV AGLCNPETVP TDFAQMLQSY TAAGYRVVAL ASKPLPTVPS LEAAQQLTRD TVEGDLSLLG LLVMRNLLKP QTTPVIQALR RTRIRAVMVT GDNLQTAVTV ARGCGMVAPQ EHLIIVHATH PERGQPASLE FLPMESPTAV NGVKDPDQAA SYTVEPDPRS RHLALSGPTF GIIVKHFPKL LPKVLVQGTV FARMAPEQKT ELVCELQKLQ YCVGMCGDGA NDCGALKAAD VGISLSQAEA SVVSPFTSSM ASIECVPMVI REGRCSLDTS FSVFKYMALY SLTQFISVLI LYTINTNLGD LQFLAIDLVI TTTVAVLMSR TGPALVLGRV RPPGALLSVP VLSSLLLQMV LVTGVQLGGY FLTLAQPWFV PLNRTVAAPD NLPNYENTVV FSLSSFQYLI LAAAVSKGAP FRRPLYTNVP FLVALALLSS VLVGLVLVPG LLQGPLALRN ITDTGFKLLL LGLVTLNFVG AFMLESVLDQ CLPACLRRLR PKRASKKRFK QLERELAEQP WPPLPAGPLR
Genular Protein ID: 2982699128
Symbol: Q8N4D4_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 1088
- Mass: 118812
- Checksum: 63D6A9E5EFFB2888
- Sequence:
RDKEDSSWQL FTVQVQTEAI GEGSLEPSPQ SQAEDGRSQA AVGAVPEGAW KDTAQLHKSE EAVSVGQKRV LRYYLFQGQR YIWIETQQAF YQVSLLDHGR SCDDVHRSRH GLSLQDQMVR KAIYGPNVIS IPVKSYPQLL VDEALNPYYG FQAFSIALWL ADHYYWYALC IFLISSISIC LSLYKTRKQS QTLRDMVKLS MRVCVCRPGG EEEWVDSSEL VPGDCLVLPQ EGGLMPCDAA LVAGECMVNE SSLTGESIPV LKTALPEGLG PYCAETHRRH TLFCGTLILQ ARAYVGPHVL AVVTRTGFCT AKGGLVSSIL HPRPINFKFY KHSMKFVAAL SVLALLGTIY SIFILYRNRV PLNEIVIRAL DLVTVVVPPA LPAAMTVCTL YAQSRLRRQG IFCIHPLRIN LGGKLQLVCF DKTGTLTEDG LDVMGVVPLK GQAFLPLVPE PRRLPVGPLL RALATCHALS RLQDTPVGDP MDLKMVESTG WVLEEEPAAD SAFGTQVLAV MRPPLWEPQL QAMEEPPVPV SVLHRFPFSS ALQRMSVVVA WPGATQPEAY VKGSPELVAG LCNPETVPTD FAQMLQSYTA AGYRVVALAS KPLPTVPSLE AAQQLTRDTV EGDLSLLGLL VMRNLLKPQT TPVIQALRRT RIRAVMVTGD NLQTAVTVAR GCGMVAPQEH LIIVHATHPE RGQPASLEFL PMESPTAVNG VKDPDQAASY TVEPDPRSRH LALSGPTFGI IVKHFPKLLP KVLVQGTVFA RMAPEQKTEL VCELQKLQYC VGMCGDGAND CGALKAADVG ISLSQAEASV VSPFTSSMAS IECVPMVIRE GRCSLDTSFS VFKYMALYSL TQFISVLILY TINTNLGDLQ FLAIDLVITT TVAVLMSRTG PALVLGRVRP PGALLSVPVL SSLLLQMVLV TGVQLGGYFL TLAQPWFVPL NRTVAAPDNL PNYENTVVFS LSSFQYLILA AAVSKGAPFR RPLYTNVPFL VALALLSSVL VGLVLVPGLL QGPLALRNIT DTGFKLLLLG LVTLNFVGAF MLESVLDQCL PACLRRLRPK RASKKRFKQL ERELAEQPWP PLPAGPLR
Genular Protein ID: 2114795586
Symbol: Q8NBS1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 842
- Mass: 91124
- Checksum: 252EC3E293711E57
- Sequence:
MVNESSLTGE SIPVLKTALP EGLGPYCAET HRRHTLFCGT LILQARAYVG PHVLAVVTRT GFCTAKGGLV SSILHPRPIN FKFYKHSMKF VAALSVLALL GTIYSIFILY RNRVPLNEIV IRALDLVTVV VPPALPAAMT VCTLYAQSRL RRQGIFCIHP LRINLGGKLQ LVCFDKTGTL TEDGLDVMGV VPLKGQAFLP LVPEPRRLPV GPLLRALATC HALSRLQDTP VGDPMDLKMV ESTGWVLEEE PAADSAFGTQ VLAVMRPPLW EPQLQAMEEP PVPVSVLHRF PFSSALQRMS VVVAWPGATQ PEAYVKGSPE LVAGLCNPET VPTDFAQMLQ SYTAAGYRVV ALASKPLPTV PSLEAAQQLT RDTVEGDLSL LGLLVMRNLL KPQTTPVIQA LRRTRIRAVM VTGDNLQTAV TVARGCGMVA PQEHLIIVHA THPERGQPAS LEFLPMESPT AVNGVKDPDQ AASYTVEPDP RSRHLALSGP TFGIIVKHFP KLLPKVLVQG TVFARMAPEQ KTELVCELQK LQYCVGMCGD GANGCGALKA ADVGISLSQA EASVVSPFTS SMASIECVPM VIREGRCSLD TSFSVFKYMA LYSLTQFISV LILYTINTNL GDLQFLAIDL VITTTVAVLM SRTGPALVLG RVRPPGALLS VPVLSSLLLQ MVLVTGVQLG GYFLTLAQPW FVPLNRTVAA PDNLPNYENT VVFSLSSFQY LILAAAVSKG APFRRPLYTN VPFLVALALL SSVLVGLVLV PGLLQGPLAL RNITDTGFKL LLLGLVTLNF VGAFMLESVL DQCLPACLRR LRPKRASKKR FKQLERELAE QPWPPLPAGP LR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.