TECTA

TECTA
Identifikatori
Aliasi	TECTA
Vanjski ID-jevi	OMIM: 602574 MGI: 109575 HomoloGene: 3955 GeneCards: TECTA
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	121,191,490 bp
Lokacija gena (miš)
Hrom.	Hromosom 9 (miš)
Kraj	42,311,225 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• extracellular matrix structural constituent;
Ćelijska komponenta	• anchored component of membrane; • Egzosom; • membrana; • extracellular region; • ćelijska membrana; • GO:0005578 Vanćelijski matriks; • collagen-containing extracellular matrix;
Biološki proces	• cell-matrix adhesion; • sluh; • C-terminal protein lipidation;
	Izvori:Amigo / QuickGO
Ortolozi
	7007
	21683
	ENSG00000109927
	ENSMUSG00000037705
	O75443
	O08523
	NM_005422
	NM_009347; NM_001324548; NM_001378602
	NP_005413
	NP_001311477; NP_033373; NP_001365531
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Alfa-tektorin je protein koji je kod ljudi kodiran genom TECTA.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 2.155 aminokiselina, а molekulska težina 239.527 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
MNYSSFLRIW	VSFIFALVQH	QAQPRELMYP	FWQNDTKTPK	VDDGSSSEIK
LAIPVFFFGV	PYRTVYVNNN	GVVSFNVLVS	QFTPESFPLT	DGRAFVAPFW
ADVHNGIRGE	IYYRETMEPA	ILKRATKDIR	KYFKDMATFS	ATWVFIVTWE
EVTFYGGSST	TPVNTFQAVL	VSDGSYTFTL	FNYYEINWTT	GTASGGDPLT
GLGGVMAQAG	FNGGNLTNFF	SLPGSRTPEI	VNIQETTNVN	VPGRWAFKVD
GKEIDPANGC	TSRGQFLRRG	EVFWDDLNCT	VKCRCLDFNN	EIYCQEASCS
PYEVCEPKGK	FFYCSAVETS	TCVVFGEPHY	HTFDGFLFHF	QGSCAYLLAR
QCLQTSSLPF	FSVEAKNEHR	RGSAVSWVKE	LSVEVNGYKI	LIPKGSYGRV
KVNDLVTSLP	VTLDLGTVKI	YQSGISTAVE	TDFGLLVTFD	GQHYASISVP
GSYINSTCGL	CGNYNKNPLD	DFLRPDGRPA	MSVLDLGESW	RVYHADWKCD
SGCVDNCTQC	DAATEALYFG	SDYCGFLNKT	DGPLWECGTV	VDPTAFVHSC
VYDLCSVRDN	GTLLCQAIQA	YALVCQALGI	PIGDWRTQTG	CVSTVQCPSF
SHYSVCTSSC	PDTCSDLTAS	RNCATPCTEG	CECNQGFVLS	TSQCVPLHKC
GCDFDGHYYT	MGEFFWATAN	CTVQCLCEEG	GDVYCFNKTC	GSGEVCAVED
GYQGCFPKRE	TVCLLSQNQV	LHTFDGASYA	FPSEFSYTLL	KTCPERPEYL
EIDINKKKPD	AGPAWLRGLR	ILVADQEVKI	GGIGASEVKL	NGQEVELPFF
HPSGKLEIYR	NKNSTTVESK	GVVTVQYSDI	GLLYIRLSTT	YFNCTGGLCG
FYNANASDEF	CLPNGKCTDN	LAVFLESWTT	FEEICNGECG	DLLKACNNDS
ELLKFYRSRS	RCGIINDPSN	SSFLECHGVV	NVTAYYRTCL	FRLCQSGGNE
SELCDSVARY	ASACKNADVE	VGPWRTYDFC	PLECPENSHF	EECITCTETC
ETLTLGPICV	DSCSEGCQCD	EGYALLGSQC	VTRSECGCNF	EGHQLATNET
FWVDLDCQIF	CYCSGTDNRV	HCETIPCKDD	EYCMEEGGLY	YCQARTDASC
IVSGYGHYLT	FDGFPFDFQT	SCPLILCTTG	SRPSSDSFPK	FVVTAKNEDR
DPSLALWVKQ	VDVTVFGYSI	VIHRAYKHTV	LVNSERLYLP	LKLGQGKINI
FSFGFHVVVE	TDFGLKVVYD	WKTFLSITVP	RSMQNSTYGL	CGRYNGNPDD
DLEMPMGLLA	SSVNEFGQSW	VKRDTFCQVG	CGDRCPSCAK	VEGFSKVQQL
CSLIPNQNAA	FSKCHSKVNP	TFFYKNCLFD	SCIDGGAVQT	ACSWLQNYAS
TCQTQGITVT	GWRNYTSCTV	TCPPNSHYES	CVSVCQPRCA	AIRLKSDCSH
YCVEGCHCDA	GYVLNGKSCI	LPHSCGCYSD	GKYYEPKQLF	WNSDCTRRCR
CFRRNVIQCD	PRQCKSDEEC	ALRNGVRGCF	STKTSYCLAA	GGGVFRTFDG
AFLRFPANCA	FVLSTICQKL	PDISFQLIIN	FDKWSAPNLT	IISPVYFYIN
EEQILINDRN	TVKVNGTQVN	VPFITGLATK	IYSSEGFLVI	DTSPDIQIYY
NGFNVIKISI	SERLQNKVCG	LCGNFNGDLT	DDYVTLRGKP	VVSSVVLAQS
WKTNGMQKRP	LAPSCNELQF	SQYAAMCDNV	HIQKMQGDGY	CLKLTDMKGF
FQPCYGLLDP	LPFYESCYLD	GCYSHKKFQL	CGSLAAYGEA	CRSFGILSTE
WIEKENCSGV	VEDPCVGADC	PNRTCELGNG	RELCGCIEPP	PYGNNSHDII
DAEVTCKAAQ	MEVSISKCKL	FQLGFEREGV	RINDRQCTGI	EGEDFISFQI
NNTKGNCGNI	VQSNGTHIMY	KNTLWIESAN	NTGNIITRDR	TINVEFSCAY
ELDIKISLDS	VVKPMLSVIN	LTVPTQEGSF	ITKMALYKNA	SYKHPYRQGE
VVLTTRDVLY	VGVFVVGADA	THLILTLNKC	YATPTRDSND	KLRYFIIEGG
CQNLKDNTIG	IEENAVSLTC	RFHVTVFKFI	GDYDEVHLHC	AVSLCDSEKY
SCKITCPHNS	RIATDYTKEP	KEQIISVGPI	RRKRLDWCED	NGGCEQICTS
RVDGPLCSCV	TGTLQEDGKS	CRASNSSMEL	QVWTLLLIMI	QISLWHFVYK
SGTTS

Funkcija

Tektorska membrana je apikalni vanćelijski matriks (aECM) unutrašnjeg uha, koji kontaktira stereocilijske snopove specijalizovane senzorne trepljaste ćelije. Zvuk inducira kretanje ovih ćelija u odnosu na membranu tektora, odbija od stereocilija i dovodi do fluktuacija u potencijalu membrane trepljaste ćelije, pretvarajući zvuk u električne signale. Alfa-tektorin je jedna od glavnih nekolagenskih komponenti tektorske membrane. Pokazalo se da su mutacije u TECTA genu odgovorne za autosomno dominantno nesindromsko oštećenje sluha i recesivni oblik senzorinervnu predjezičnu nesindromsku gluhoću.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000109927 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037705 - 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.
^ Hughes DC, Legan PK, Steel KP, Richardson GP (Apr 1998). "Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness". Genomics. 48 (1): 46–51. doi:10.1006/geno.1997.5159. PMID 9503015.
^ Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (maj 1998). "Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment". Nat Genet. 19 (1): 60–2. doi:10.1038/ng0598-60. PMID 9590290. S2CID 24814696.
^ ^a ^b "Entrez Gene: TECTA tectorin alpha".
^ "UniProt, O75443". Pristupljeno 27. 8. 2021.

Dopunska literatura

Van Camp G, Willems PJ, Smith RJ (1997). "Nonsyndromic hearing impairment: unparalleled heterogeneity". Am. J. Hum. Genet. 60 (4): 758–64. PMC 1712474. PMID 9106521.
Verhoeven K, Van Camp G, Govaerts PJ, et al. (1997). "A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24". Am. J. Hum. Genet. 60 (5): 1168–73. PMC 1712440. PMID 9150164.
Balciuniene J, Dahl N, Borg E, et al. (1998). "Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family". Am. J. Hum. Genet. 63 (3): 786–93. doi:10.1086/302012. PMC 1377400. PMID 9718342.
Mustapha M, Weil D, Chardenoux S, et al. (1999). "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21". Hum. Mol. Genet. 8 (3): 409–12. doi:10.1093/hmg/8.3.409. PMID 9949200.
Alloisio N, Morlé L, Bozon M, et al. (1999). "Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss". Eur. J. Hum. Genet. 7 (2): 255–8. doi:10.1038/sj.ejhg.5200273. PMID 10196713.
Balciuniene J, Dahl N, Jalonen P, et al. (2000). "Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes". Hum. Genet. 105 (3): 211–6. doi:10.1007/s004390051091. PMID 10987647.
Moreno-Pelayo MA, del Castillo I, Villamar M, et al. (2001). "A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family". J. Med. Genet. 38 (5): E13. doi:10.1136/jmg.38.5.e13. PMC 1734870. PMID 11333869.
Iwasaki S, Harada D, Usami S, et al. (2002). "Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss". Arch. Otolaryngol. Head Neck Surg. 128 (8): 913–7. doi:10.1001/archotol.128.8.913. PMID 12162770.
Naz S, Alasti F, Mowjoodi A, et al. (2003). "Distinctive audiometric profile associated with DFNB21 alleles of TECTA". J. Med. Genet. 40 (5): 360–3. doi:10.1136/jmg.40.5.360. PMC 1735454. PMID 12746400.
Pfister M, Thiele H, Van Camp G, et al. (2005). "A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations". Cell. Physiol. Biochem. 14 (4–6): 369–76. doi:10.1159/000080347. PMID 15319541. S2CID 42513598.
Plantinga RF, de Brouwer AP, Huygen PL, et al. (2006). "A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation". J. Assoc. Res. Otolaryngol. 7 (2): 173–81. doi:10.1007/s10162-006-0033-z. PMC 2504577. PMID 16718611.
Plantinga RF, Cremers CW, Huygen PL, et al. (2007). "Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family". J. Assoc. Res. Otolaryngol. 8 (1): 1–7. doi:10.1007/s10162-006-0060-9. PMC 2538417. PMID 17136632.
Meyer NC, Alasti F, Nishimura CJ, et al. (2007). "Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus". Am. J. Med. Genet. A. 143 (14): 1623–9. doi:10.1002/ajmg.a.31718. PMID 17431902. S2CID 31657425.
Meyer NC, Nishimura CJ, McMordie S, Smith RJ (2007). "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree". Clin. Genet. 72 (2): 130–7. doi:10.1111/j.1399-0004.2007.00828.x. PMID 17661817. S2CID 38393510.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000109927 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037705 - 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.

[pmid9503015-5] Hughes DC, Legan PK, Steel KP, Richardson GP (Apr 1998). "Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness". Genomics. 48 (1): 46–51. doi:10.1006/geno.1997.5159. PMID 9503015.

[pmid9590290-6] Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (maj 1998). "Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment". Nat Genet. 19 (1): 60–2. doi:10.1038/ng0598-60. PMID 9590290. S2CID 24814696.

[entrez-7] "Entrez Gene: TECTA tectorin alpha".

[UniProt-8] "UniProt, O75443". Pristupljeno 27. 8. 2021.

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