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PKD1 англ Polycystin 1 transient receptor potential channel interacting білок який кодується однойменним геном розташова

PKD1

PKD1

PKD1 (англ. Polycystin 1, transient receptor potential channel interacting) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми. Довжина поліпептидного ланцюга білка становить 4 303 амінокислот, а молекулярна маса — 462 529.

PKD1
Ідентифікатори
Символи polycystin-1
Зовнішні ІД GeneCards: [1]
Ортологи
Види Людина Миша
Entrez
н/д
н/д
Ensembl
н/д
н/д
UniProt
н/д
н/д
RefSeq (мРНК)
н/д
н/д
RefSeq (білок)
н/д
н/д
Локус (UCSC) н/д н/д
PubMed search н/д н/д
Вікідані
Див./Ред. для людей
Послідовність амінокислот
1020304050
MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVN
CSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISN
NKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQP
EAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAA
HEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSG
PPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPV
TATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDV
QVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPAR
AVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSP
AVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEP
HPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPS
GDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELR
RPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGA
NICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSV
TLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSW
LPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRA
EVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVD
SGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALP
WLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVL
VRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASN
HVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVE
VAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGE
YLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHP
LPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGA
AAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDG
TVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVE
PAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFT
RSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWL
VACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNN
ISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLW
DLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRG
LVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYT
FRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTV
QLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRAT
NMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVY
TWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQV
PVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGP
HVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVA
PGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSV
RGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGS
RVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSEN
RTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGS
PGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPE
VDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGR
PARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVT
VAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWAC
VASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEE
ATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGS
KRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTV
LGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHD
AEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVG
LAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLL
RQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETL
VSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA
ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVAS
QAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAP
GPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVAS
MAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQ
PQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEP
RPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFR
WSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTA
FGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQ
LDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSG
HRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHV
IVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLV
AELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYG
AVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSK
VAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDL
FLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEE
DGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSL
SSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLL
PAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASF
LGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPH
GFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYR
LQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLR
QVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAP
DLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAV
FLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLP
LLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATAL
VRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLV
KAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSS
CVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALR
LGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFR
HKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVS
LGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRR
SSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHP
SST

Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у такому біологічному процесі, як альтернативний сплайсинг. Білок має сайт для зв'язування з лектинами. Локалізований у клітинній мембрані, мембрані, клітинних відростках, війках.

Література

  • Wei W., Hackmann K., Xu H., Germino G., Qian F. (2007). Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. J. Biol. Chem. 282: 21729—21737. PMID 17525154 DOI:10.1074/jbc.M703218200
  • Chapin H.C., Rajendran V., Caplan M.J. (2010). Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site. Mol. Biol. Cell. 21: 4338—4348. PMID 20980620 DOI:10.1091/mbc.E10-05-0407
  • Stayner C., Zhou J. (2001). Polycystin channels and kidney disease. Trends Pharmacol. Sci. 22: 543—546. PMID 11698076 DOI:10.1016/S0165-6147(00)01832-0
  • Mizoguchi M., Tamura T., Yamaki A., Higashihara E., Shimizu Y. (2001). Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family. J. Hum. Genet. 46: 511—517. PMID 11558899 DOI:10.1007/s100380170032
  • Burtey S., Lossi A.M., Bayle J., Berland Y., Fontes M. (2002). Mutation screening of the PKD1 transcript by RT-PCR. J. Med. Genet. 39: 422—429. PMID 12070253 DOI:10.1136/jmg.39.6.422
  • Hoefele J., Mayer K., Scholz M., Klein H.G. (2011). Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Nephrol. Dial. Transplant. 26: 2181—2188. PMID 21115670 DOI:10.1093/ndt/gfq720

Примітки

  1. HUGO Gene Nomenclature Commitee, HGNC:9008 (англ.) . Процитовано 11 вересня 2017.
  2. (англ.) . Архів оригіналу за 24 вересня 2017. Процитовано 11 вересня 2017.

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PKD1 angl Polycystin 1 transient receptor potential channel interacting bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 16 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 4 303 aminokislot a molekulyarna masa 462 529 PKD1IdentifikatoriSimvolipolycystin 1Zovnishni ID GeneCards 1 OrtologiVidi Lyudina MishaEntrezn d n dEnsembl n d n dUniProt n d n dRefSeq mRNK n dn dRefSeq bilok n dn dLokus UCSC n dn dPubMed search n dn dVikidaniDiv Red dlya lyudej Poslidovnist aminokislot1020304050 MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVN CSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANLSALAELDISN NKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQP EAATCAGPGSLAGQPLLGIPLLDSGCGEEYVACLPDNSSGTVAAVSFSAA HEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSG PPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPV TATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDV QVEAAPAALELVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPAR AVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSP AVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEP HPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQDAENLLVGAPS GDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELR RPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGA NICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSV TLHGQDVLMLPGDLVGLQHDAGPGALLHCSPAPGHPGPRAPYLSANASSW LPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRA EVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVD SGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALP WLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVL VRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASN HVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVE VAFLWTFGDGEQALHQFQPPYNESFPVPDPSVAQVLVEHNVMHTYAAPGE YLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHP LPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGA AAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDG TVLSGPEATVEHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVE PAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFT RSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWL VACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGSYLVTVTASNN ISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLW DLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRG LVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYT FRSVGTFNIIVTAENEVGSAQDSIFVYVLQLIEGLQVVGGGRYFPTNHTV QLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRAT NMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVY TWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQV PVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGP HVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVA PGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSV RGKNHVSWAQAQVRIVVLEAVSGLQVPNCCEPGIATGTERNFTARVQRGS RVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSEN RTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGS PGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPE VDVVLPLQVLMRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGR PARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVT VAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWAC VASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSLTVWKAGRKEE ATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGS KRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTV LGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHD AEDAGAPLVYALLLRRCRQGHCEEFCVYKGSLSSYGAVLPPGFRPHFEVG LAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLL RQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETL VSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVAS QAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAP GPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVAS MAFQTQAGAQIPIERLASERAITVKVPNNSDWAARGHRSSANSANSVVVQ PQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEP RPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFR WSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTA FGASLFVPPSHVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQ LDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSG HRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHV IVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDAALLRFRRLLV AELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYG AVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSK VAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDL FLDDSKSLVCWPSGEGTLSWPDLLSDPSIVGSNLRQLARGQAGHGLGPEE DGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSL SSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTGLVEGLRKRLL PAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASF LGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPH GFALFLAKEEARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYR LQSAIKQELHSRAFLAITRSEELWPWMAHVLLPYVHGNQSSPELGPPRLR QVRLQEALYPDPPGPRVHTCSAAGGFSTSDYDVGWESPHNGSGTWAYSAP DLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLHNWLDNRSRAV FLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLP LLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATAL VRLAQLGAADRQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLV KAAQQLRFVRQWSVFGKTLCRALPELLGVTLGLVVLGVAYAQLAILLVSS CVDSLWSVAQALLVLCPGTGLSTLCPAESWHLSPLLCVGLWALRLWGALR LGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLWMGLSKVKEFR HKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVS LGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRR SSRAPAGSSRGPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHP SST A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takomu biologichnomu procesi yak alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z lektinami Lokalizovanij u klitinnij membrani membrani klitinnih vidrostkah vijkah LiteraturaWei W Hackmann K Xu H Germino G Qian F 2007 Characterization of cis autoproteolysis of polycystin 1 the product of human polycystic kidney disease 1 gene J Biol Chem 282 21729 21737 PMID 17525154 DOI 10 1074 jbc M703218200 Chapin H C Rajendran V Caplan M J 2010 Polycystin 1 surface localization is stimulated by polycystin 2 and cleavage at the G protein coupled receptor proteolytic site Mol Biol Cell 21 4338 4348 PMID 20980620 DOI 10 1091 mbc E10 05 0407 Stayner C Zhou J 2001 Polycystin channels and kidney disease Trends Pharmacol Sci 22 543 546 PMID 11698076 DOI 10 1016 S0165 6147 00 01832 0 Mizoguchi M Tamura T Yamaki A Higashihara E Shimizu Y 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients including one heterozygous mutation identified in members of the same family J Hum Genet 46 511 517 PMID 11558899 DOI 10 1007 s100380170032 Burtey S Lossi A M Bayle J Berland Y Fontes M 2002 Mutation screening of the PKD1 transcript by RT PCR J Med Genet 39 422 429 PMID 12070253 DOI 10 1136 jmg 39 6 422 Hoefele J Mayer K Scholz M Klein H G 2011 Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease ADPKD Nephrol Dial Transplant 26 2181 2188 PMID 21115670 DOI 10 1093 ndt gfq720PrimitkiHUGO Gene Nomenclature Commitee HGNC 9008 angl Procitovano 11 veresnya 2017 angl Arhiv originalu za 24 veresnya 2017 Procitovano 11 veresnya 2017 Div takozhHromosoma 16 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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