PKD1 (англ. Polycystin 1, transient receptor potential channel interacting ) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми.[1] амінокислот , а молекулярна маса — 462 529[2]
Послідовність амінокислот
10 20 30 40 50 MPPAAPARLA LALGLGLWLG ALAGGPGRGC GPCEPPCLCG PAPGAACRVN CSGRGLRTLG PALRIPADAT ALDVSHNLLR ALDVGLLANL SALAELDISN NKISTLEEGI FANLFNLSEI NLSGNPFECD CGLAWLPRWA EEQQVRVVQP EAATCAGPGS LAGQPLLGIP LLDSGCGEEY VACLPDNSSG TVAAVSFSAA HEGLLQPEAC SAFCFSTGQG LAALSEQGWC LCGAAQPSSA SFACLSLCSG PPPPPAPTCR GPTLLQHVFP ASPGATLVGP HGPLASGQLA AFHIAAPLPV TATRWDFGDG SAEVDAAGPA ASHRYVLPGR YHVTAVLALG AGSALLGTDV QVEAAPAALE LVCPSSVQSD ESLDLSIQNR GGSGLEAAYS IVALGEEPAR AVHPLCPSDT EIFPGNGHCY RLVVEKAAWL QAQEQCQAWA GAALAMVDSP AVQRFLVSRV TRSLDVWIGF STVQGVEVGP APQGEAFSLE SCQNWLPGEP HPATAEHCVR LGPTGWCNTD LCSAPHSYVC ELQPGGPVQD AENLLVGAPS GDLQGPLTPL AQQDGLSAPH EPVEVMVFPG LRLSREAFLT TAEFGTQELR RPAQLRLQVY RLLSTAGTPE NGSEPESRSP DNRTQLAPAC MPGGRWCPGA NICLPLDASC HPQACANGCT SGPGLPGAPY ALWREFLFSV PAGPPAQYSV TLHGQDVLML PGDLVGLQHD AGPGALLHCS PAPGHPGPRA PYLSANASSW LPHLPAQLEG TWACPACALR LLAATEQLTV LLGLRPNPGL RLPGRYEVRA EVGNGVSRHN LSCSFDVVSP VAGLRVIYPA PRDGRLYVPT NGSALVLQVD SGANATATAR WPGGSVSARF ENVCPALVAT FVPGCPWETN DTLFSVVALP WLSEGEHVVD VVVENSASRA NLSLRVTAEE PICGLRATPS PEARVLQGVL VRYSPVVEAG SDMVFRWTIN DKQSLTFQNV VFNVIYQSAA VFKLSLTASN HVSNVTVNYN VTVERMNRMQ GLQVSTVPAV LSPNATLALT AGVLVDSAVE VAFLWTFGDG EQALHQFQPP YNESFPVPDP SVAQVLVEHN VMHTYAAPGE YLLTVLASNA FENLTQQVPV SVRASLPSVA VGVSDGVLVA GRPVTFYPHP LPSPGGVLYT WDFGDGSPVL TQSQPAANHT YASRGTYHVR LEVNNTVSGA AAQADVRVFE ELRGLSVDMS LAVEQGAPVV VSAAVQTGDN ITWTFDMGDG TVLSGPEATV EHVYLRAQNC TVTVGAASPA GHLARSLHVL VFVLEVLRVE PAACIPTQPD ARLTAYVTGN PAHYLFDWTF GDGSSNTTVR GCPTVTHNFT RSGTFPLALV LSSRVNRAHY FTSICVEPEV GNVTLQPERQ FVQLGDEAWL VACAWPPFPY RYTWDFGTEE AAPTRARGPE VTFIYRDPGS YLVTVTASNN ISAANDSALV EVQEPVLVTS IKVNGSLGLE LQQPYLFSAV GRGRPASYLW DLGDGGWLEG PEVTHAYNST GDFTVRVAGW NEVSRSEAWL NVTVKRRVRG LVVNASRTVV PLNGSVSFST SLEAGSDVRY SWVLCDRCTP IPGGPTISYT FRSVGTFNII VTAENEVGSA QDSIFVYVLQ LIEGLQVVGG GRYFPTNHTV QLQAVVRDGT NVSYSWTAWR DRGPALAGSG KGFSLTVLEA GTYHVQLRAT NMLGSAWADC TMDFVEPVGW LMVAASPNPA AVNTSVTLSA ELAGGSGVVY TWSLEEGLSW ETSEPFTTHS FPTPGLHLVT MTAGNPLGSA NATVEVDVQV PVSGLSIRAS EPGGSFVAAG SSVPFWGQLA TGTNVSWCWA VPGGSSKRGP HVTMVFPDAG TFSIRLNASN AVSWVSATYN LTAEEPIVGL VLWASSKVVA PGQLVHFQIL LAAGSAVTFR LQVGGANPEV LPGPRFSHSF PRVGDHVVSV RGKNHVSWAQ AQVRIVVLEA VSGLQVPNCC EPGIATGTER NFTARVQRGS RVAYAWYFSL QKVQGDSLVI LSGRDVTYTP VAAGLLEIQV RAFNALGSEN RTLVLEVQDA VQYVALQSGP CFTNRSAQFE AATSPSPRRV AYHWDFGDGS PGQDTDEPRA EHSYLRPGDY RVQVNASNLV SFFVAQATVT VQVLACREPE VDVVLPLQVL MRRSQRNYLE AHVDLRDCVT YQTEYRWEVY RTASCQRPGR PARVALPGVD VSRPRLVLPR LALPVGHYCF VFVVSFGDTP LTQSIQANVT VAPERLVPII EGGSYRVWSD TRDLVLDGSE SYDPNLEDGD QTPLSFHWAC VASTQREAGG CALNFGPRGS STVTIPRERL AAGVEYTFSL TVWKAGRKEE ATNQTVLIRS GRVPIVSLEC VSCKAQAVYE VSRSSYVYLE GRCLNCSSGS KRGRWAARTF SNKTLVLDET TTSTGSAGMR LVLRRGVLRD GEGYTFTLTV LGRSGEEEGC ASIRLSPNRP PLGGSCRLFP LGAVHALTTK VHFECTGWHD AEDAGAPLVY ALLLRRCRQG HCEEFCVYKG SLSSYGAVLP PGFRPHFEVG LAVVVQDQLG AAVVALNRSL AITLPEPNGS ATGLTVWLHG LTASVLPGLL RQADPQHVIE YSLALVTVLN EYERALDVAA EPKHERQHRA QIRKNITETL VSLRVHTVDD IQQIAAALAQ CMGPSRELVC RSCLKQTLHK LEAMMLILQA ETTAGTVTPT AIGDSILNIT GDLIHLASSD VRAPQPSELG AESPSRMVAS QAYNLTSALM RILMRSRVLN EEPLTLAGEE IVAQGKRSDP RSLLCYGGAP GPGCHFSIPE AFSGALANLS DVVQLIFLVD SNPFPFGYIS NYTVSTKVAS MAFQTQAGAQ IPIERLASER AITVKVPNNS DWAARGHRSS ANSANSVVVQ PQASVGAVVT LDSSNPAAGL HLQLNYTLLD GHYLSEEPEP YLAVYLHSEP RPNEHNCSAS RRIRPESLQG ADHRPYTFFI SPGSRDPAGS YHLNLSSHFR WSALQVSVGL YTSLCQYFSE EDMVWRTEGL LPLEETSPRQ AVCLTRHLTA FGASLFVPPS HVRFVFPEPT ADVNYIVMLT CAVCLVTYMV MAAILHKLDQ LDASRGRAIP FCGQRGRFKY EILVKTGWGR GSGTTAHVGI MLYGVDSRSG HRHLDGDRAF HRNSLDIFRI ATPHSLGSVW KIRVWHDNKG LSPAWFLQHV IVRDLQTARS AFFLVNDWLS VETEANGGLV EKEVLAASDA ALLRFRRLLV AELQRGFFDK HIWLSIWDRP PRSRFTRIQR ATCCVLLICL FLGANAVWYG AVGDSAYSTG HVSRLSPLSV DTVAVGLVSS VVVYPVYLAI LFLFRMSRSK VAGSPSPTPA GQQVLDIDSC LDSSVLDSSF LTFSGLHAEQ AFVGQMKSDL FLDDSKSLVC WPSGEGTLSW PDLLSDPSIV GSNLRQLARG QAGHGLGPEE DGFSLASPYS PAKSFSASDE DLIQQVLAEG VSSPAPTQDT HMETDLLSSL SSTPGEKTET LALQRLGELG PPSPGLNWEQ PQAARLSRTG LVEGLRKRLL PAWCASLAHG LSLLLVAVAV AVSGWVGASF PPGVSVAWLL SSSASFLASF LGWEPLKVLL EALYFSLVAK RLHPDEDDTL VESPAVTPVS ARVPRVRPPH GFALFLAKEE ARKVKRLHGM LRSLLVYMLF LLVTLLASYG DASCHGHAYR LQSAIKQELH SRAFLAITRS EELWPWMAHV LLPYVHGNQS SPELGPPRLR QVRLQEALYP DPPGPRVHTC SAAGGFSTSD YDVGWESPHN GSGTWAYSAP DLLGAWSWGS CAVYDSGGYV QELGLSLEES RDRLRFLQLH NWLDNRSRAV FLELTRYSPA VGLHAAVTLR LEFPAAGRAL AALSVRPFAL RRLSAGLSLP LLTSVCLLLF AVHFAVAEAR TWHREGRWRV LRLGAWARWL LVALTAATAL VRLAQLGAAD RQWTRFVRGR PRRFTSFDQV AQLSSAARGL AASLLFLLLV KAAQQLRFVR QWSVFGKTLC RALPELLGVT LGLVVLGVAY AQLAILLVSS CVDSLWSVAQ ALLVLCPGTG LSTLCPAESW HLSPLLCVGL WALRLWGALR LGAVILRWRY HALRGELYRP AWEPQDYEMV ELFLRRLRLW MGLSKVKEFR HKVRFEGMEP LPSRSSRGSK VSPDVPPPSA GSDASHPSTS SSQLDGLSVS LGRLGTRCEP EPSRLQAVFE ALLTQFDRLN QATEDVYQLE QQLHSLQGRR SSRAPAGSSR GPSPGLRPAL PSRLARASRG VDLATGPSRT PLRAKNKVHP 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
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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
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Див. також
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