CDH23

(Preusmjereno sa Kadherin-23)

Kadherin-23 je protein koji je kod ljudi kodiran genom CDH23.[5][6][7]

CDH23
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2KBR, 2KBS, 2LSR

Identifikatori
AliasiCDH23
Vanjski ID-jeviOMIM: 605516 MGI: 1890219 HomoloGene: 11142 GeneCards: CDH23
Lokacija gena (čovjek)
Hromosom 10 (čovjek)
Hrom.Hromosom 10 (čovjek)[1]
Hromosom 10 (čovjek)
Genomska lokacija za CDH23
Genomska lokacija za CDH23
Bend10q22.1Početak71,396,920 bp[1]
Kraj71,815,947 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za CDH23
Genomska lokacija za CDH23
Bend10 B4|10 30.11 cMPočetak60,138,527 bp[2]
Kraj60,532,269 bp[2]
Obrazac RNK ekspresije




Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija vezivanje iona metala
calcium ion binding
GO:0001948, GO:0016582 vezivanje za proteine
Ćelijska komponenta ćelijska membrana
membrana
stereocilium
integral component of membrane
Biološki proces Čulo ravnoteže
calcium ion transport
homophilic cell adhesion via plasma membrane adhesion molecules
photoreceptor cell maintenance
inner ear receptor cell stereocilium organization
locomotory behavior
Vid
sensory perception of light stimulus
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
response to stimulus
regulation of cytosolic calcium ion concentration
Ćelijska adhezija
sluh
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001171930
NM_001171931
NM_001171932
NM_001171933
NM_001171934

NM_001171935
NM_001171936
NM_022124
NM_052836

NM_001252635
NM_023370

RefSeq (bjelančevina)
NP_001165401
NP_001165402
NP_001165403
NP_001165404
NP_001165405

NP_001165406
NP_001165407
NP_071407
NP_443068
NP_001165401.1
NP_071407.4

NP_001239564
NP_075859

Lokacija (UCSC)Chr 10: 71.4 – 71.82 MbChr 10: 60.14 – 60.53 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 3.354 aminokiseline, а molekulska težina 369.494[8]

1020304050
MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGS
SVTQLLAQDMDNDPLVFGVSGEEASRFFAVEPDTGVVWLRQPLDRETKSE
FTVEFSVSDHQGVITRKVNIQVGDVNDNAPTFHNQPYSVRIPENTPVGTP
IFIVNATDPDLGAGGSVLYSFQPPSQFFAIDSARGIVTVIRELDYETTQA
YQLTVNATDQDKTRPLSTLANLAIIITDVQDMDPIFINLPYSTNIYEHSP
PGTTVRIITAIDQDKGRPRGIGYTIVSGNTNSIFALDYISGVLTLNGLLD
RENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNS
SEYSVAITELAQVGFALPLFIQVVDKDENLGLNSMFEVYLVGNNSHHFII
SPTSVQGKADIRIRVAIPLDYETVDRYDFDLFANESVPDHVGYAKVKITL
INENDNRPIFSQPLYNISLYENVTVGTSVLTVLATDNDAGTFGEVSYFFS
DDPDRFSLDKDTGLIMLIARLDYELIQRFTLTIIARDGGGEETTGRVRIN
VLDVNDNVPTFQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSI
VSASAFGSYFDISLYEGYGVISVSRPLDYEQISNGLIYLTVMAMDAGNPP
LNSTVPVTIEVFDENDNPPTFSKPAYFVSVVENIMAGATVLFLNATDLDR
SREYGQESIIYSLEGSTQFRINARSGEITTTSLLDRETKSEYILIVRAVD
GGVGHNQKTGIATVNITLLDINDNHPTWKDAPYYINLVEMTPPDSDVTTV
VAVDPDLGENGTLVYSIQPPNKFYSLNSTTGKIRTTHAMLDRENPDPHEA
ELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVL
EGIPAGVSIYQVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTT
TELDRERIAEYQLRVVASDAGTPTKSSTSTLTIHVLDVNDETPTFFPAVY
NVSVSEDVPREFRVVWLNCTDNDVGLNAELSYFITGGNVDGKFSVGYRDA
VVRTVVGLDRETTAAYMLILEAIDNGPVGKRHTGTATVFVTVLDVNDNRP
IFLQSSYEASVPEDIPEGHSILQLKATDADEGEFGRVWYRILHGNHGNNF
RIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVED
INDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILS
GAEGKFEIDESTGLIITVNYLDYETKTSYMMNVSATDQAPPFNQGFCSVY
ITLLNELDEAVQFSNASYEAAILENLALGTEIVRVQAYSIDNLNQITYRF
NAYTSTQAKALFKIDAITGVITVQGLVDREKGDFYTLTVVADDGGPKVDS
TVKVYITVLDENDNSPRFDFTSDSAVSIPEDCPVGQRVATVKAWDPDAGS
NGQVVFSLASGNIAGAFEIVTTNDSIGEVFVARPLDREELDHYILQVVAS
DRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNENVGGGTAVVQV
RATDRDIGINSVLSYYITEGNKDMAFRMDRISGEIATRPAPPDRERQSFY
HLVATVEDEGTPTLSATTHVYVTIVDENDNAPMFQQPHYEVLLDEGPDTL
NTSLITIQALDLDEGPNGTVTYAIVAGNIVNTFRIDRHMGVITAAKELDY
EISHGRYTLIVTATDQCPILSHRLTSTTTVLVNVNDINDNVPTFPRDYEG
PFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGV
LRVRKDVELDRETIAFYNLTICARDRGMPPLSSTMLVGIRVLDINDNDPV
LLNLPMNITISENSPVSSFVAHVLASDADSGCNARLTFNITAGNRERAFF
INATTGIVTVNRPLDRERIPEYKLTISVKDNPENPRIARRDYDLLLIFLS
DENDNHPLFTKSTYQAEVMENSPAGTPLTVLNGPILALDADQDIYAVVTY
QLLGAQSGLFDINSSTGVVTVRSGVIIDREAFSPPILELLLLAEDIGLLN
STAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL
NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRG
TVPLSGTAIVTILIDDINDSRPEFLNPIQTVSVLESAEPGTVIANITAID
HDLNPKLEYHIVGIVAKDDTDRLVPNQEDAFAVNINTGSVMVKSPMNREL
VATYEVTLSVIDNASDLPERSVSVPNAKLTVNVLDVNDNTPQFKPFGITY
YMERILEGATPGTTLIAVAAVDPDKGLNGLVTYTLLDLVPPGYVQLEDSS
AGKVIANRTVDYEEVHWLNFTVRASDNGSPPRAAEIPVYLEIVDINDNNP
IFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAI
NPTTGDIYVLSSLDREKKDHYILTALAKDNPGDVASNRRENSVQVVIQVL
DVNDCRPQFSKPQFSTSVYENEPAGTSVITMMATDQDEGPNGELTYSLEG
PGVEAFHVDMDSGLVTTQRPLQSYEKFSLTVVATDGGEPPLWGTTMLLVE
VIDVNDNRPVFVRPPNGTILHIREEIPLRSNVYEVYATDKDEGLNGAVRY
SFLKTAGNRDWEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPV
PYETMQPLQVALEDIDDNEPLFVRPPKGSPQYQLLTVPEHSPRGTLVGNV
TGAVDADEGPNAIVYYFIAAGNEEKNFHLQPDGCLLVLRDLDREREAIFS
FIVKASSNRSWTPPRGPSPTLDLVADLTLQEVRVVLEDINDQPPRFTKAE
YTAGVATDAKVGSELIQVLALDADIGNNSLVFYSILAIHYFRALANDSED
VGQVFTMGSMDGILRTFDLFMAYSPGYFVVDIVARDLAGHNDTAIIGIYI
LRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKG
RVNFAQTELLIHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDV
QPAISVRLPDDMSALQMAIIVLAILLFLAAMLFVLMNWYYRTVHKRKLKA
IVAGSAGNRGFIDIMDMPNTNKYSFDGANPVWLDPFCRNLELAAQAEHED
DLPENLSEIADLWNSPTRTHGTFGREPAAVKPDDDRYLRAAIQEYDNIAK
LGQIIREGPIKGSLLKVVLEDYLRLKKLFAQRMVQKASSCHSSISELIQT
ELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTGTLLATDLNSL
PEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLE
ITEL

Funkcija

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Ovaj gen je član superporodice kadherina, gena koji kodiraju kalcij ovisnu adheziju ćelijskih glikoproteina. Protein kodiran ovim genom je veliki, jednoprolazni transmembranski protein sastavljen od vanćelijskog domena koji sadrži 27 ponavljanja saznačajnom homologijom kadherinskog ektodomina. Eksprimiran je u nervnosenzornom epitelu, a smatra se da je protein uključen u organizaciju stereocilija i formiranje snopa treplji. Konkretno, smatra se da je u interakciji s protokadherinom 15 u obliku niti vrh-link.[9]

Klinički značaj

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Gen se nalazi u regiji koja sadrži ljudske lokuse gluhoće DFNB12 i USH1D. Usherov sindrom 1D i nesindromska autosomno recesivna gluhoća DFNB12 uzrokovani su alelnim mutacijama ovog novog gena sličnog kadherinu.[7][10] Gen je povezan s padom funkcije bubrega.[11]

Interakcije

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Pokazano je da CDH23 ima interakcije sa USH1C.[12][13]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107736 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012819 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. S2CID 30614281.
  6. ^ Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics. 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341.
  7. ^ a b EntrezGene 64072
  8. ^ "UniProt, Q9H251". Pristupljeno 31. 8. 2021.
  9. ^ Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295. S2CID 4414814.
  10. ^ Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429.
  11. ^ Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.
  12. ^ Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990.
  13. ^ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

Dopunska literatura

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Vanjski linkovi

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