Fibrocistin je veliki, receptoroliki protein za koje se smatra da je uključen u tubulogenezu i/ili održavanje arhitekture lumena epitelnih kanala.
Aminokiselinska sekvenca Dužina polipeptidnog lanca je 4.o74 aminokiseline, a molekulska težina 446.702 Da..
1020304050 MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVL YPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEA HEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPG KLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGS CYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQ DLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIR HVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGY RWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASL HFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGA MYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRL PEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLE PLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPA AQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTR TSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLF YVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGC GTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTV ISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTL SWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATA NQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYI TGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVR PSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLI LFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAF TYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALA PVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFS IEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCE TLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAAT PVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLS GCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGS ACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGD PLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLT TVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYL SVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRG QNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVI GYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHT VLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGG RLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLC GLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVP DHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQP ITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVEN GQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGS EDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTC LRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQ DTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNERE KLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQ LKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTL GLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNN VIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTN QTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWES AGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHK GSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTV KTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASC LVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTV NYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNY LLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLT YLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWG GYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLS VACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGT IGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSS SSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEV GLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPL YSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHG IDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSE RLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAF KNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVL RNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTS EPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNA ENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPR KYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLM QGFICKQTDQVVLILDSADAIWAIQKLYPVVSVTSGFVDVFSSVNANIPC STSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGNKSTSKLLLAVFY HELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMDNLLYVVLQGE EPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHE MPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRAS PPMTVETISKVIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTG VLENVLNMTIGALLVTQSKGVIGYGNTSSFKTGNLIYIRPYALSILVQPS DGEVGNELPVQPQLVFLDEQNRRVESLGPPSEPWTISASLEGASDSVLKG CTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFTARSKPFAVLP VTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQT NNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGV SRRKVSRHIVREEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWK EGQEQLLRYQLAGQNQLLLLCPDFRQERQQLPGQSRLSKQSGSLGLSQEK KASCGATEAFCLHSVHPETIQEQL
Funkcija 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.
Klinički značaj 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
Vanjski linkovi GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
Kategorija:Transmembranski proteini Kategorija:Geni na hromosomu 6 Kategorija:Ljudski proteini Kategorija:Proteomika