PKHD1
| Fibrocistin | |
|---|---|
 Pozicija gena za fibrocistin | |
| Identifikatori | |
| Simbol | PKHD1 |
Fibrocistin je veliki, receptoroliki protein za koje se smatra da je uključen u tubulogenezu i/ili održavanje arhitekture lumena epitelnih kanala.[5]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 4.o74 aminokiseline, a molekulska težina 446.702 Da.[6].
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MTAWLISLMS | IEVLLLAVRH | LSLHIEPEEG | SLAGGTWITV | IFDGLELGVL | ||||
| YPNNGSQLEI | HLVNVNMVVP | ALRSVPCDVF | PVFLDLPVVT | CRTRSVLSEA | ||||
| HEGLYFLEAY | FGGQLVSSPN | PGPRDSCTFK | FSKAQTPIVH | QVYPPSGVPG | ||||
| KLIHVYGWII | TGRLETFDFD | AEYIDSPVIL | EAQGDKWVTP | CSLINRQMGS | ||||
| CYPIQEDHGL | GTLQCHVEGD | YIGSQNVSFS | VFNKGKSMVH | KKAWLISAKQ | ||||
| DLFLYQTHSE | ILSVFPETGS | LGGRTNITIT | GDFFDNSAQV | TIAGIPCDIR | ||||
| HVSPRKIECT | TRAPGKDVRL | TTPQPGNRGL | LFEVGDAVEG | LELTEATPGY | ||||
| RWQIVPNASS | PFGFWSQEGQ | PFRARLSGFF | VAPETNNYTF | WIQADSQASL | ||||
| HFSWSEEPRT | KVKVASISVG | TADWFDSWEQ | NRDEGTWQQK | TPKLELLGGA | ||||
| MYYLEAEHHG | IAPSRGMRIG | VQIHNTWLNP | DVVTTYLREK | HQIRVRAQRL | ||||
| PEVQVLNVSG | RGNFFLTWDN | VSSQPIPANA | TAHLIQTTIE | ELLAVKCKLE | ||||
| PLWSNILLRL | GFERGPEVSN | SDGDLTSGTE | PFCGRFSLRQ | PRHLVLTPPA | ||||
| AQKGYRLDQY | THLCLAYKGH | MNKILKMIVS | FTIGFQNMVK | NTTCDWSLTR | ||||
| TSPESWQFDC | TDLWETCVRC | FGDLQPPPAN | SPVLVHQINL | LPLAQETGLF | ||||
| YVDEIIIADT | NVTVSQADSG | TARPGGNLVE | SVSVVGSPPV | YSVTSWLAGC | ||||
| GTELPLITAR | SVPTEGTEEG | SGLVLVTTQR | RQRTSPPLGG | HFRIQLPNTV | ||||
| ISDVPVQISA | HHLHQLLQNN | ADDFTSRYLN | ASDFTVKEDL | YTCYEHVWTL | ||||
| SWSTQIGDLP | NFIRVSDENL | TGVNPAAATR | VVYDGGVFLG | PIFGDMLATA | ||||
| NQHTQVVVRV | NDVPAHCPGS | CSFQYLQGST | PCVHSVWYSI | DGDINLMIYI | ||||
| TGTGFSGDSQ | FLQVTVNKTS | CKVIFSNQTN | VVCQTDLLPV | GMHRILMLVR | ||||
| PSGLAISATG | EDLFLNVKPR | LDMVEPSRAA | DIGGLWATIR | GSSLEGVSLI | ||||
| LFGSYSCAIN | VATSNSSRIQ | CKVPPRGKDG | RIVNVTVIRG | DYSAVLPRAF | ||||
| TYVSSLNPVI | VTLSRNISNI | AGGETLVIGV | ARLMNYTDLD | VEVHVQDALA | ||||
| PVHTQSAWGL | EVALPPLPAG | LHRISVSING | VSIHSQGVDL | HIQYLTEVFS | ||||
| IEPCCGSLLG | GTILSISGIG | FSRDPALVWV | LVGNRSCDIV | NLTEASIWCE | ||||
| TLPAPQIPDA | GAPTVPAAVE | VWAGNRFFAR | GPSPSLVGKG | FTFMYEAAAT | ||||
| PVVTAMQGEI | TNSSLSLHVG | GSNLSNSVIL | LGNLNCDVET | QSFQGNVSLS | ||||
| GCSIPLHSLE | AGIYPLQVRQ | KQMGFANMSV | VLQQFAVMPR | IMAIFPSQGS | ||||
| ACGGTILTVR | GLLLNSRRRS | VRVDLSGPFT | CVILSLGDHT | ILCQVSLEGD | ||||
| PLPGASFSLN | VTVLVNGLTS | ECQGNCTLFI | REEASPVMDA | LSTNTSGSLT | ||||
| TVLIRGQRLA | TTADEPMVFV | DDQLPCNVTF | FNASHVVCQT | RDLAPGPHYL | ||||
| SVFYTRNGYA | CSGNVSRHFY | IMPQVFHYFP | KNFSLHGGSL | LTIEGTGLRG | ||||
| QNTTSVYIDQ | QTCLTVNIGA | ELIRCIVPTG | NGSVALEIEV | DGLWYHIGVI | ||||
| GYNKAFTPEL | ISISQSDDIL | TFAVAQISGA | ANIDIFIGMS | PCVGVSGNHT | ||||
| VLQCVVPSLP | AGEYHVRGYD | CIRGWASSAL | VFTSRVIITA | VTENFGCLGG | ||||
| RLVHVFGAGF | SPGNVSAAVC | GAPCRVLANA | TVSAFSCLVL | PLDVSLAFLC | ||||
| GLKREEDSCE | AARHTYVQCD | LTVAMATEQL | LESWPYLYIC | EESSQCLFVP | ||||
| DHWAESMFPS | FSGLFISPKL | ERDEVLIYNS | SCNITMETEA | EMECETPNQP | ||||
| ITVKITEIRK | RWGQNTQGNF | SLQFCRRWSR | THSWFPERLP | QDGDNVTVEN | ||||
| GQLLLLDTNT | SILNLLHIKG | GKLIFMAPGP | IELRAHAILV | SDGGELRIGS | ||||
| EDKPFQGRAQ | ITLYGSSYST | PFFPYGVKFL | AVRNGTLSLH | GSLPEVIVTC | ||||
| LRATAHALDT | VLALEDAVDW | NPGDEVVIIS | GTGVKGAKPM | EEIVTVETVQ | ||||
| DTDLYLKSPL | RYSHNFTENW | VAGEHHILKA | TVALLSRSIT | IQGNLTNERE | ||||
| KLLVSCQEAN | APEGNLQHCL | YSMSEKMLGS | RDMGARVIVQ | SFPEEPSQVQ | ||||
| LKGVQFQVLG | QAFHKHLSSL | TLVGAMRESF | IQGCTVRNSF | SRGLSMCGTL | ||||
| GLKVDSNVFY | NILGHALLVG | TCTEMRYISW | EAIHGRKDDW | SGHGNIIRNN | ||||
| VIIQVSGAEG | LSNPEMLTPS | GIYICSPTNV | IEGNRVCGAG | YGYFFHLMTN | ||||
| QTSQAPLLSF | TQNIAHSCTR | YGLFVYPKFQ | PPWDNVTGTT | LFQSFTVWES | ||||
| AGGAQIFRSS | NLRLKNFKVY | SCRDFGIDVL | ESDANTSVTD | SLLLGHFAHK | ||||
| GSLCMSSGIK | TPKRWELMVS | NTTFVNFDLI | NCVAIRTCSD | CSQGQGGFTV | ||||
| KTSQLKFTNS | SNLVAFPFPH | AAILEDLDGS | LSGKNRSHIL | ASMETLSASC | ||||
| LVNSSFGRVV | HGSACGGGVL | FHRMSIGLAN | TPEVSYDLTM | TDSRNKTTTV | ||||
| NYVRDTLSNP | RGWMALLLDQ | ETYSLQSENL | WINRSLQYSA | TFDNFAPGNY | ||||
| LLLVHTDLPP | YPDILLRCGS | RVGLSFPFLP | SPGQNQGCDW | FFNSQLRQLT | ||||
| YLVSGEGQVQ | VILRVKEGMP | PTISASTSAP | ESALKWSLPE | TWQGVEEGWG | ||||
| GYNNTIPGPG | DDVLILPNRT | VLVDTDLPFF | KGLYVMGTLD | FPVDRSNVLS | ||||
| VACMVIAGGE | LKVGTLENPL | EKEQKLLILL | RASEGVFCDR | MNGIHIDPGT | ||||
| IGVYGKVHLY | SAYPKNSWTH | LGADIASGNE | RIIVEDAVDW | RPHDKIVLSS | ||||
| SSYEPHEAEV | LTVKEVKGHH | VRIYERLKHR | HIGSVHVTED | GRHIRLAAEV | ||||
| GLLTRNIQIQ | PDVSCRGRLF | VGSFRKSSRE | EFSGVLQLLN | VEIQNFGSPL | ||||
| YSSVEFSNVS | AGSWIISSTL | HQSCGGGIHA | AASHGVLLND | NIVFGTAGHG | ||||
| IDLEGQAYTV | TNNLVVLMTQ | PAWSTIWVAG | IKVNQVKDIN | LHGNVVAGSE | ||||
| RLGFHIRGHK | CSSCELLWSD | NVAHSSLHGL | HLYKESGLDN | CTRISGFLAF | ||||
| KNFDYGAMLH | VENSVEIENI | TLVDNTIGLL | AVVYVFSAPQ | NSVKKVQIVL | ||||
| RNSVIVATSS | SFDCIQDKVK | PHSANLTSTD | RAPSNPRGGR | IGILWPVFTS | ||||
| EPNQWPQEPW | HKVRNDHSIS | GIMKLQDVTF | SSFVKSCYSD | DLDVCILPNA | ||||
| ENSGIMHPIT | AERTRMLKIK | DKNKFYFPSL | QPRKDLGKVV | CPELDCASPR | ||||
| KYLFKDLDGR | ALGLPPPVSV | FPKTEAEWTA | SFFNAGTFRE | EQKCTYQFLM | ||||
| QGFICKQTDQ | VVLILDSADA | IWAIQKLYPV | VSVTSGFVDV | FSSVNANIPC | ||||
| STSGSVSTFY | SILPIRQITK | VCFMDQTPQV | LRFFLLGNKS | TSKLLLAVFY | ||||
| HELQSPHVFL | GESFIPPTLV | QSASLLLNES | IGANYFNIMD | NLLYVVLQGE | ||||
| EPIEIRSGVS | IHLALTVMVS | VLEKGWEIVI | LERLTNFLQI | GQNQIRFIHE | ||||
| MPGHEETLKA | IADSRAKRKR | NCPTVTCTSH | YRRVGQRRPL | MMEMNSHRAS | ||||
| PPMTVETISK | VIVIEIGDSP | TVRSTGMISS | LSSNKLQNLA | HRVITAQQTG | ||||
| VLENVLNMTI | GALLVTQSKG | VIGYGNTSSF | KTGNLIYIRP | YALSILVQPS | ||||
| DGEVGNELPV | QPQLVFLDEQ | NRRVESLGPP | SEPWTISASL | EGASDSVLKG | ||||
| CTQAETQDGY | VSFYNLAVLI | SGSNWHFIFT | VTSPPGVNFT | ARSKPFAVLP | ||||
| VTRKEKSTII | LAASLSSVAS | WLALSCLVCC | WLKRSKSRKT | KPEEIPESQT | ||||
| NNQNIHIHIS | SKRRESQGPK | KEDTVVGEDM | RMKVMLGKVN | QCPHQLMNGV | ||||
| SRRKVSRHIV | REEEAAVPAP | GTTGITSHGH | ICAPGAPAQQ | VYLQETGNWK | ||||
| EGQEQLLRYQ | LAGQNQLLLL | CPDFRQERQQ | LPGQSRLSKQ | SGSLGLSQEK | ||||
| KASCGATEAF | CLHSVHPETI | QEQL |
Funkcija
[uredi | uredi izvor]FPC se povezuje s primarnim cilijama epitelnih ćelija i lokalizira se s proizvodom gena Pkd2 polikistinom-2 (PC2), sugerirajući da ova dva proteina mogu funkcionirati na zajedničkom molekulskom putu.[7]
Klinički značaj
[uredi | uredi izvor]Mutacije njegovog kodirajućeg gena (hromosomski lokus 6p12.2) mogu uzrokovati autosomno recesivnu policistastu bolest bubrega. Kodirajući gen za fibrocistin je PKHD1. Fibrocistin se nalazi u epitelnim ćelijama bubrežnih tubula i žučnih kanala. Mutacija u PKHD1 (može biti autosomno recesivno nasljeđena ili spontana) koja dovodi do nedostatka fibrocistina uzrokujući karakterističnu policistastu dilataciju obje strukture.
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000170927 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043760 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Zhang M, Mai W, Li C, Cho S, Hao C, Moeckel G, Zhao R, Kim I, Wang J, Xiong H, Wang H, Sato Y, Wu Y, Nakanuma Y, Lilova M, Pei Y, Harris R, Li S, Coffey R, Sun L, Wu D, Chen X, Breyer M, Zhao Z, McKanna J, Wu G (2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells". Proc Natl Acad Sci USA. 101 (8): 2311–2316. Bibcode:2004PNAS..101.2311Z. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
- ^ "UniProt, P08F94" (jezik: engleski). Pristupljeno 4. 10. 2021.
- ^ Kim, Ingyu; Fu, Yulong; Hui, Kwokyin; Moeckel, Gilbert; Mai, Weiyi; Li, Cunxi; Liang, Dan; Zhao, Ping; Ma, Jie; Chen, Xing-Zhen; George, Alfred L.; Coffey, Robert J.; Feng, Zhong-Ping; Wu, Guanqing (mart 2008). "Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function". Journal of the American Society of Nephrology. 19 (3): 455–468. doi:10.1681/ASN.2007070770. PMC 2391052. PMID 18235088.
Vanjski linkovi
[uredi | uredi izvor]- GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
- fibrocystin protein, human na US National Library of Medicine Medical Subject Headings (MeSH)