USH1C

USH1C
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3K1R, 2KBS, 2LSR, 2KBQ, 2KBR, 1X5N, 5F3X
Identifikatori
Aliasi	USH1C
Vanjski ID-jevi	OMIM: 605242 MGI: 1919338 HomoloGene: 77476 GeneCards: USH1C
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	17,544,416 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	45,887,927 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• spectrin binding; • actin filament binding; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• citoplazma; • apical part of cell; • brush border; • citoskelet; • projekcija ćelije; • microvillus; • citosol; • photoreceptor outer segment; • photoreceptor inner segment; • ćelijska membrana; • stereocilium; • sinapsa; • stereocilia ankle link; • stereocilia ankle link complex; • photoreceptor connecting cilium; • stereocilium tip;
Biološki proces	• sensory perception of light stimulus; • sluh; • G2/M transition of mitotic cell cycle; • Čulo ravnoteže; • photoreceptor cell maintenance; • regulation of microvillus length; • Ćelijska diferencijacija; • parallel actin filament bundle assembly; • inner ear morphogenesis; • inner ear auditory receptor cell differentiation; • actin filament bundle assembly; • inner ear receptor cell stereocilium organization; • protein localization to microvillus; • brush border assembly; • retinal cone cell development;
	Izvori:Amigo / QuickGO
Ortolozi
	10083
	72088
	ENSG00000006611
	ENSMUSG00000030838
	Q9Y6N9
	Q9ES64
	NM_001297764; NM_005709; NM_153676
	NM_001163733; NM_001291182; NM_023649; NM_153677
	NP_001284693; NP_005700; NP_710142
	NP_001157205; NP_001278111; NP_076138; NP_710143
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Harmonin je protein koji je kod ljudi kodiran genom USH1C.^[5]^[6]^[7] Potreban je za razvoj i održavanje pužničnih trepljastih ćelija.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 552 aminokiseline, а molekulska težina 62.211 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
MDRKVAREFR	HKVDFLIEND	AEKDYLYDVL	RMYHQTMDVA	VLVGDLKLVI
NEPSRLPLFD	AIRPLIPLKH	QVEYDQLTPR	RSRKLKEVRL	DRLHPEGLGL
SVRGGLEFGC	GLFISHLIKG	GQADSVGLQV	GDEIVRINGY	SISSCTHEEV
INLIRTKKTV	SIKVRHIGLI	PVKSSPDEPL	TWQYVDQFVS	ESGGVRGSLG
SPGNRENKEK	KVFISLVGSR	GLGCSISSGP	IQKPGIFISH	VKPGSLSAEV
GLEIGDQIVE	VNGVDFSNLD	HKEAVNVLKS	SRSLTISIVA	AAGRELFMTD
RERLAEARQR	ELQRQELLMQ	KRLAMESNKI	LQEQQEMERQ	RRKEIAQKAA
EENERYRKEM	EQIVEEEEKF	KKQWEEDWGS	KEQLLLPKTI	TAEVHPVPLR
KPKYDQGVEP	ELEPADDLDG	GTEEQGEQDF	RKYEEGFDPY	SMFTPEQIMG
KDVRLLRIKK	EGSLDLALEG	GVDSPIGKVV	VSAVYERGAA	ERHGGIVKGD
EIMAINGKIV	TDYTLAEAEA	ALQKAWNQGG	DWIDLVVAVC	PPKEYDDELT
FF

Interakcije

Pokazano je da USH1C ima interakcije sa CDH23.^[9]^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000006611 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030838 - 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.
^ ^a ^b Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (Sep 2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nature Genetics. 26 (1): 51–5. doi:10.1038/79171. PMID 10973247. S2CID 9383331.
^ Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (Jun 2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Human Genetics. 110 (6): 527–31. doi:10.1007/s00439-002-0732-4. PMID 12107438. S2CID 24276167.
^ "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)".
^ "UniProt, Q9Y6N9". Pristupljeno 28. 8. 2021.
^ 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 (Dec 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.
^ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (Nov 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 of the United States of America. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

Dopunska literatura

Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Türeci O, Sahin U, Pfreundschuh M, Old LJ (maj 1998). "Characterization of human colon cancer antigens recognized by autologous antibodies". International Journal of Cancer. 76 (5): 652–8. doi:10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P. PMID 9610721.
Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER (Jun 1998). "A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene". Genomics. 50 (2): 290–2. doi:10.1006/geno.1998.5320. PMID 9653658.
Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R (Aug 1998). "The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region". Human Genetics. 103 (2): 193–8. doi:10.1007/s004390050806. PMID 9760205. S2CID 6040572.
Scanlan MJ, Williamson B, Jungbluth A, Stockert E, Arden KC, Viars CS, Gure AO, Gordan JD, Chen YT, Old LJ (Apr 1999). "Isoforms of the human PDZ-73 protein exhibit differential tissue expression". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1445 (1): 39–52. doi:10.1016/s0167-4781(99)00033-0. PMID 10209257.
Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, Okano M, Storch WB, Moriuchi T, Sakiyama Y, Kobayashi K (Oct 1999). "Identification of an autoimmune enteropathy-related 75-kilodalton antigen". Gastroenterology. 117 (4): 823–30. doi:10.1016/S0016-5085(99)70340-9. PMID 10500064.
Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jäger D, Jäger E, Knuth A, Chen YT, Old LJ (Nov 1999). "Antigens recognized by autologous antibody in patients with renal-cell carcinoma". International Journal of Cancer. 83 (4): 456–64. doi:10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5. PMID 10508479.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B (Sep 2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene". Nature Genetics. 26 (1): 56–60. doi:10.1038/79178. PMID 10973248. S2CID 2237489.
Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C (2001). "Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis". Human Mutation. 17 (1): 34–41. doi:10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O. PMID 11139240.
Ishikawa S, Kobayashi I, Hamada J, Tada M, Hirai A, Furuuchi K, Takahashi Y, Ba Y, Moriuchi T (Apr 2001). "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75". Gene. 267 (1): 101–10. doi:10.1016/S0378-1119(01)00378-X. PMID 11311560.
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (Jul 2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". American Journal of Human Genetics. 69 (1): 25–34. doi:10.1086/321277. PMC 1226045. PMID 11398101.
Savas S, Frischhertz B, Pelias MZ, Batzer MA, Deininger PL, Keats BB (Jan 2002). "The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population". Human Genetics. 110 (1): 95–7. doi:10.1007/s00439-001-0653-7. PMID 11810303. S2CID 39688683.
Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ (Jul 2002). "Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness". Human Genetics. 111 (1): 26–30. doi:10.1007/s00439-002-0736-0. PMID 12136232. S2CID 8137208.
Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (Nov 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 of the United States of America. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.
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 (Dec 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.
Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (Mar 2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Human Molecular Genetics. 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
USH1C lokacija ljudskog genoma UCSC Genome Browser.

USH1C detalji ljudskog genoma u UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000006611 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030838 - 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.

[pmid10973247-5] Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (Sep 2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nature Genetics. 26 (1): 51–5. doi:10.1038/79171. PMID 10973247. S2CID 9383331.

[pmid12107438-6] Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (Jun 2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Human Genetics. 110 (6): 527–31. doi:10.1007/s00439-002-0732-4. PMID 12107438. S2CID 24276167.

[7] "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)".

[UniProt-8] "UniProt, Q9Y6N9". Pristupljeno 28. 8. 2021.

[pmid12485990-9] 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 (Dec 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.

[pmid12407180-10] Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (Nov 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 of the United States of America. 99 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

[5]

[6]

[7]

[1]

[2]

[3]

[4]

[8]

[9]

[10]