PKD1
PKD1 (англ. Polycystin 1, transient receptor potential channel interacting) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 16-ї хромосоми.[1] Довжина поліпептидного ланцюга білка становить 4 303 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 |
| PKD1 | |||||||
|---|---|---|---|---|---|---|---|
| Ідентифікатори | |||||||
| Символи | polycystin-1 | ||||||
| Зовнішні ІД | GeneCards: | ||||||
| Ортологи | |||||||
| Види | Людина | Миша | |||||
| Entrez |
|
| |||||
| Ensembl |
|
| |||||
| UniProt |
|
| |||||
| RefSeq (мРНК) |
|
| |||||
| RefSeq (білок) |
|
| |||||
| Локус (UCSC) | н/д | н/д | |||||
| PubMed search | н/д | н/д | |||||
| Вікідані | |||||||
| |||||||
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. PubMed 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. PubMed DOI:10.1091/mbc.E10-05-0407
- Stayner C., Zhou J. (2001). Polycystin channels and kidney disease.. Trends Pharmacol. Sci. 22: 543 — 546. PubMed 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. PubMed 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. PubMed 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. PubMed DOI:10.1093/ndt/gfq720
Примітки
- HUGO Gene Nomenclature Commitee, HGNC:9008 (англ.). Процитовано 11 вересня 2017.
- UniProt, P98161 (англ.). Процитовано 11 вересня 2017.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.