PCDH15

Protokadherin-15 je protein koji je kod ljudi kodiran genom PCDH15.^[5][6][7]

PCDH15
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 4APX, 4AQ8, 4AQA, 4AQE, 4AXW
Identifikatori
Aliasi	PCDH15
Vanjski ID-jevi	OMIM: 605514 MGI: 1891428 HomoloGene: 23401 GeneCards: PCDH15
Lokacija gena (čovjek) Hrom. Hromosom 10 (čovjek)[1] Bend 10q21.1 Početak 53,802,771 bp[1] Kraj 55,627,942 bp[1]
Lokacija gena (miš) Hrom. Hromosom 10 (miš)[2] Bend 10 B5.3|10 37.43 cM Početak 73,099,342 bp[2] Kraj 74,649,737 bp[2]
Ontologija gena Molekularna funkcija • calcium ion binding Ćelijska komponenta • integral component of membrane • extracellular region • ćelijska membrana • photoreceptor outer segment • sinapsa • membrana • stereocilium • Vanćelijsko • integral component of plasma membrane Biološki proces • inner ear development • photoreceptor cell maintenance • sensory perception of light stimulus • sluh • Čulo ravnoteže • homophilic cell adhesion via plasma membrane adhesion molecules • Ćelijska adhezija • cell-cell signaling • nervous system development Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	65217	11994
Ensembl	ENSG00000150275	ENSMUSG00000052613
UniProt	Q96QU1	Q99PJ1
RefSeq (mRNK)	NM_033056 NM_001142763 NM_001142764 NM_001142765 NM_001142766 NM_001142767 NM_001142768 NM_001142769 NM_001142770 NM_001142771 NM_001142772 NM_001142773 NM_001354404 NM_001354411 NM_001354420 NM_001354429 NM_001354430 NM_001384140	NM_001142735 NM_001142736 NM_001142737 NM_001142738 NM_001142739 NM_001142740 NM_001142741 NM_001142742 NM_001142743 NM_001142746 NM_001142747 NM_001142748 NM_001142760 NM_023115
RefSeq (bjelančevina)	NP_001136235 NP_001136236 NP_001136237 NP_001136238 NP_001136239 NP_001136240 NP_001136241 NP_001136242 NP_001136243 NP_001136244 NP_001136245 NP_149045 NP_001341333 NP_001341340 NP_001341349 NP_001341358 NP_001341359 NP_001371069	NP_001136207 NP_001136208 NP_001136209 NP_001136210 NP_001136211 NP_001136212 NP_001136213 NP_001136214 NP_001136215 NP_001136218 NP_001136219 NP_001136220 NP_001136232 NP_075604
Lokacija (UCSC)	Chr 10: 53.8 – 55.63 Mb	Chr 10: 73.1 – 74.65 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.955 aminokiselina, а molekulska težina 216.069 Da.^[8]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MFRQFYLWTC		LASGIILGSL		FEICLGQYDD		DCKLARGGPP		ATIVAIDEES
RNGTILVDNM		LIKGTAGGPD		PTIELSLKDN		VDYWVLMDPV		KQMLFLNSTG
RVLDRDPPMN		IHSIVVQVQC		INKKVGTIIY		HEVRIVVRDR		NDNSPTFKHE
SYYATVNELT		PVGTTIFTGF		SGDNGATDID		DGPNGQIEYV		IQYNPDDPTS
NDTFEIPLML		TGNIVLRKRL		NYEDKTRYFV		IIQANDRAQN		LNERRTTTTT
LTVDVLDGDD		LGPMFLPCVL		VPNTRDCRPL		TYQAAIPELR		TPEELNPIIV
TPPIQAIDQD		RNIQPPSDRP		GILYSILVGT		PEDYPRFFHM		HPRTAELSLL
EPVNRDFHQK		FDLVIKAEQD		NGHPLPAFAG		LHIEILDENN		QSPYFTMPSY
QGYILESAPV		GATISDSLNL		TSPLRIVALD		KDIEDTKDPE		LHLFLNDYTS
VFTVTQTGIT		RYLTLLQPVD		REEQQTYTFS		ITAFDGVQES		EPVIVNIQVM
DANDNTPTFP		EISYDVYVYT		DMRPGDSVIQ		LTAVDADEGS		NGEITYEILV
GAQGDFIINK		TTGLITIAPG		VEMIVGRTYA		LTVQAADNAP		PAERRNSICT
VYIEVLPPNN		QSPPRFPQLM		YSLEISEAMR		VGAVLLNLQA		TDREGDSITY
AIENGDPQRV		FNLSETTGIL		TLGKALDRES		TDRYILIITA		SDGRPDGTST
ATVNIVVTDV		NDNAPVFDPY		LPRNLSVVEE		EANAFVGQVK		ATDPDAGING
QVHYSLGNFN		NLFRITSNGS		IYTAVKLNRE		VRDYYELVVV		ATDGAVHPRH
STLTLAIKVL		DIDDNSPVFT		NSTYTVLVEE		NLPAGTTILQ		IEAKDVDLGA
NVSYRIRSPE		VKHFFALHPF		TGELSLLRSL		DYEAFPDQEA		SITFLVEAFD
IYGTMPPGIA		TVTVIVKDMN		DYPPVFSKRI		YKGMVAPDAV		KGTPITTVYA
EDADPPGLPA		SRVRYRVDDV		QFPYPASIFE		VEEDSGRVIT		RVNLNEEPTT
IFKLVVVAFD		DGEPVMSSSA		TVKILVLHPG		EIPRFTQEEY		RPPPVSELAT
KGTMVGVISA		AAINQSIVYS		IVSGNEEDTF		GINNITGVIY		VNGPLDYETR
TSYVLRVQAD		SLEVVLANLR		VPSKSNTAKV		YIEIQDENNH		PPVFQKKFYI
GGVSEDARMF		TSVLRVKATD		KDTGNYSVMA		YRLIIPPIKE		GKEGFVVETY
TGLIKTAMLF		HNMRRSYFKF		QVIATDDYGK		GLSGKADVLV		SVVNQLDMQV
IVSNVPPTLV		EKKIEDLTEI		LDRYVQEQIP		GAKVVVESIG		ARRHGDAFSL
EDYTKCDLTV		YAIDPQTNRA		IDRNELFKFL		DGKLLDINKD		FQPYYGEGGR
ILEIRTPEAV		TSIKKRGESL		GYTEGALLAL		AFIIILCCIP		AILVVLVSYR
QFKVRQAECT		KTARIQAALP		AAKPAVPAPA		PVAAPPPPPP		PPPGAHLYEE
LGDSSILFLL		YHFQQSRGNN		SVSEDRKHQQ		VVMPFSSNTI		EAHKSAHVDG
SLKSNKLKSA		RKFTFLSDED		DLSAHNPLYK		ENISQVSTNS		DISQRTDFVD
PFSPKIQAKS		KSLRGPREKI		QRLWSQSVSL		PRRLMRKVPN		RPEIIDLQQW
QGTRQKAENE		NTGICTNKRG		SSNPLLTTEE		ANLTEKEEIR		QGETLMIEGT
EQLKSLSSDS		SFCFPRPHFS		FSTLPTVSRT		VELKSEPNVI		SSPAECSLEL
SPSRPCVLHS		SLSRRETPIC		MLPIETERNI		FENFAHPPNI		SPSACPLPPP
PPISPPSPPP		APAPLAPPPD		ISPFSLFCPP		PSPPSIPLPL		PPPTFFPLSV
STSGPPTPPL		LPPFPTPLPP		PPPSIPCPPP		PSASFLSTEC		VCITGVKCTT
NLMPAEKIKS		SMTQLSTTTV		CKTDPQREPK		GILRHVKNLA		ELEKSVANMY
SQIEKNYLRT		NVSELQTMCP		SEVTNMEITS		EQNKGSLNNI		VEGTEKQSHS
QSTSL

Funkcija

Ovaj gen je član nadporodice kadherina. Članovi porodice kodiraju proteine integralne membrane koji posreduju kalcij-ovisnoj adheziji. Proteinski proizvod ovog gena sastoji se od signalog peptida, 11 vanćelijskih domena koji vezuju kalcij, transmembranskog domena i jedinstvenog citoplazmatskog domena. Ima bitnu ulogu u održavanju normalnih funkcija mrežnjače l i pužnice.^[7] Smatra se da je u interakciji s CDH23, kako bi formirao vrh-linkovane filamente.^[9]

Klinički znčaj

Mutacije u ovom genu povezane su s gubitkom sluha, što je u skladu s njegovom lokacijom u Usherovom sindromu tip 1F (USH1F), kritičnoj regiji na hromosomu 10.^[7] Utvrđeno je da su varijacije unutar njega povezane s normalnim razlikama u izgledu ljudskog lica.^[10]