PKHD1

**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
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Kategorija:Transmembranski proteini
Kategorija:Geni na hromosomu 6
Kategorija:Ljudski proteini
Kategorija:Proteomika