ID TECTA_HUMAN Reviewed; 2155 AA. AC O75443; DT 07-JUN-2004, integrated into UniProtKB/Swiss-Prot. DT 30-NOV-2010, sequence version 3. DT 24-JAN-2024, entry version 190. DE RecName: Full=Alpha-tectorin; DE Flags: Precursor; GN Name=TECTA; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNA12 PHE-1820; ASP-1824 AND RP CYS-1870, AND VARIANTS GLY-371; ALA-932 AND ASN-1724. RX PubMed=9590290; DOI=10.1038/ng0598-60; RA Verhoeven K., Van Laer L., Kirschhofer K., Legan P.K., Hughes D.C., RA Schatteman I., Verstreken M., Van Hauwe P., Coucke P., Chen A., RA Smith R.J.H., Somers T., Offeciers F.E., Van de Heyning P., RA Richardson G.P., Wachtler F., Kimberling W.J., Willems P.J., Govaerts P.J., RA Van Camp G.; RT "Mutations in the human alpha-tectorin gene cause autosomal dominant non- RT syndromic hearing impairment."; RL Nat. Genet. 19:60-62(1998). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16554811; DOI=10.1038/nature04632; RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G., RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., RA Hattori M., Rogers J., Lander E.S., Sakaki Y.; RT "Human chromosome 11 DNA sequence and analysis including novel gene RT identification."; RL Nature 440:497-500(2006). RN [3] RP INTERACTION WITH CEACAM16. RX PubMed=21368133; DOI=10.1073/pnas.1005842108; RA Zheng J., Miller K.K., Yang T., Hildebrand M.S., Shearer A.E., DeLuca A.P., RA Scheetz T.E., Drummond J., Scherer S.E., Legan P.K., Goodyear R.J., RA Richardson G.P., Cheatham M.A., Smith R.J., Dallos P.; RT "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with RT alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)."; RL Proc. Natl. Acad. Sci. U.S.A. 108:4218-4223(2011). RN [4] RP VARIANT DFNA12 SER-1619. RX PubMed=10196713; DOI=10.1038/sj.ejhg.5200273; RA Alloisio N., Morle L., Bozon M., Godet J., Verhoeven K., Van Camp G., RA Plauchu H., Muller P., Collet L., Lina-Granade G.; RT "Mutation in the zonadhesin-like domain of alpha-tectorin associated with RT autosomal dominant non-syndromic hearing loss."; RL Eur. J. Hum. Genet. 7:255-258(1999). RN [5] RP VARIANT DFNA12 SER-1057, AND VARIANTS GLY-371; ALA-932 AND THR-2100. RX PubMed=10987647; DOI=10.1007/s004390051091; RA Balciuniene J., Dahl N., Jalonen P., Verhoeven K., Van Camp G., Borg E., RA Pettersson U., Jazin E.E.; RT "Alpha-tectorin involvement in hearing disabilities: one gene -- two RT phenotypes."; RL Hum. Genet. 105:211-216(1999). RN [6] RP INVOLVEMENT IN DFNB21. RX PubMed=9949200; DOI=10.1093/hmg/8.3.409; RA Mustapha M., Weil D., Chardenoux S., Elias S., El-Zir E., Beckmann J.S., RA Loiselet J., Petit C.; RT "An alpha-tectorin gene defect causes a newly identified autosomal RT recessive form of sensorineural pre-lingual non-syndromic deafness, RT DFNB21."; RL Hum. Mol. Genet. 8:409-412(1999). RN [7] RP VARIANT GLY-1837. RX PubMed=11333869; DOI=10.1136/jmg.38.5.e13; RA Moreno-Pelayo M.A., del Castillo I., Villamar M., Romero L., RA Hernandez-Calvin F.J., Herraiz C., Barbera R., Navas C., Moreno F.; RT "A cysteine substitution in the zona pellucida domain of alpha-tectorin RT results in autosomal dominant, postlingual, progressive, mid frequency RT hearing loss in a Spanish family."; RL J. Med. Genet. 38:E13-E13(2001). RN [8] RP VARIANT DFNA12 HIS-2021. RX PubMed=12162770; DOI=10.1001/archotol.128.8.913; RA Iwasaki S., Harada D., Usami S., Nagura M., Takeshita T., Hoshino T.; RT "Association of clinical features with mutation of TECTA in a family with RT autosomal dominant hearing loss."; RL Arch. Otolaryngol. Head Neck Surg. 128:913-917(2002). RN [9] RP INVOLVEMENT IN DFNB21. RX PubMed=12746400; DOI=10.1136/jmg.40.5.360; RA Naz S., Alasti F., Mowjoodi A., Riazuddin S., Sanati M.H., Friedman T.B., RA Griffith A.J., Wilcox E.R., Riazuddin S.; RT "Distinctive audiometric profile associated with DFNB21 alleles of TECTA."; RL J. Med. Genet. 40:360-363(2003). RN [10] RP VARIANT DFNA12 GLY-1509. RX PubMed=15319541; DOI=10.1159/000080347; RA Pfister M., Thiele H., Van Camp G., Fransen E., Apaydin F., Aydin O., RA Leistenschneider P., Devoto M., Zenner H.P., Blin N., Nurnberg P., RA Ozkarakas H., Kupka S.; RT "A genotype-phenotype correlation with gender-effect for hearing impairment RT caused by TECTA mutations."; RL Cell. Physiol. Biochem. 14:369-376(2004). RN [11] RP VARIANT DFNA12 CYS-1890. RX PubMed=16718611; DOI=10.1007/s10162-006-0033-z; RA Plantinga R.F., de Brouwer A.P., Huygen P.L., Kunst H.P., Kremer H., RA Cremers C.W.; RT "A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype- RT phenotype correlation."; RL J. Assoc. Res. Otolaryngol. 7:173-181(2006). RN [12] RP VARIANTS [LARGE SCALE ANALYSIS] HIS-284; ASN-771 AND THR-813. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). RN [13] RP VARIANT DFNA12 ARG-1837. RX PubMed=17661817; DOI=10.1111/j.1399-0004.2007.00828.x; RA Meyer N.C., Nishimura C.J., McMordie S., Smith R.J.; RT "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a RT single extended pedigree."; RL Clin. Genet. 72:130-137(2007). RN [14] RP VARIANTS DFNA12 GLU-317 AND MET-1866. RX PubMed=20947814; RA Sagong B., Park R., Kim Y.H., Lee K.Y., Baek J.I., Cho H.J., Cho I.J., RA Kim U.K., Lee S.H.; RT "Two novel missense mutations in the TECTA gene in Korean families with RT autosomal dominant nonsyndromic hearing loss."; RL Ann. Clin. Lab. Sci. 40:380-385(2010). RN [15] RP VARIANTS DFNA12 ASN-197; SER-211; CYS-362; LYS-465; MET-562; MET-815; RP SER-886; TYR-1036; VAL-1098; HIS-1136; LEU-1248; ARG-1517; ARG-1791; RP GLY-1837; MET-1866; ARG-1867; CYS-1890; ARG-1898; CYS-1947 AND THR-2009. RX PubMed=21520338; DOI=10.1002/humu.21512; RA Hildebrand M.S., Morin M., Meyer N.C., Mayo F., Modamio-Hoybjor S., RA Mencia A., Olavarrieta L., Morales-Angulo C., Nishimura C.J., Workman H., RA DeLuca A.P., del Castillo I., Taylor K.R., Tompkins B., Goodman C.W., RA Schrauwen I., Wesemael M.V., Lachlan K., Shearer A.E., Braun T.A., RA Huygen P.L., Kremer H., Van Camp G., Moreno F., Casavant T.L., Smith R.J., RA Moreno-Pelayo M.A.; RT "DFNA8/12 caused by TECTA mutations is the most identified subtype of RT nonsyndromic autosomal dominant hearing loss."; RL Hum. Mutat. 32:825-834(2011). CC -!- FUNCTION: One of the major non-collagenous components of the tectorial CC membrane (By similarity). The tectorial membrane is an extracellular CC matrix of the inner ear that covers the neuroepithelium of the cochlea CC and contacts the stereocilia bundles of specialized sensory hair cells. CC Sound induces movement of these hair cells relative to the tectorial CC membrane, deflects the stereocilia and leads to fluctuations in hair- CC cell membrane potential, transducing sound into electrical signals. CC {ECO:0000250}. CC -!- SUBUNIT: May form homomeric filament after self-association or CC heteromeric filament after association with beta-tectorin (Probable). CC Interacts with CEACAM16. {ECO:0000269|PubMed:21368133, ECO:0000305}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI- CC anchor {ECO:0000305}; Extracellular side {ECO:0000305}. Secreted, CC extracellular space, extracellular matrix. Note=Found in the non- CC collagenous matrix of the tectorial membrane. {ECO:0000250}. CC -!- DOMAIN: Zona pellucida domain may enable to form filaments. CC -!- PTM: The presence of a hydrophobic C-terminus preceded by a potential CC cleavage site strongly suggests that tectorins are synthesized as CC glycosylphosphatidylinositol-linked, membrane-bound precursors. CC Tectorins are targeted to the apical surface of the inner ear epithelia CC by the lipid and proteolytically released into the extracellular CC compartment. CC -!- DISEASE: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A form CC of non-syndromic sensorineural hearing loss. Sensorineural deafness CC results from damage to the neural receptors of the inner ear, the nerve CC pathways to the brain, or the area of the brain that receives sound CC information. {ECO:0000269|PubMed:12746400, ECO:0000269|PubMed:9949200}. CC Note=The disease is caused by variants affecting the gene represented CC in this entry. CC -!- DISEASE: Deafness, autosomal recessive, 21 (DFNB21) [MIM:603629]: A CC form of non-syndromic sensorineural hearing loss. Sensorineural CC deafness results from damage to the neural receptors of the inner ear, CC the nerve pathways to the brain, or the area of the brain that receives CC sound information. {ECO:0000269|PubMed:12746400, CC ECO:0000269|PubMed:9949200}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF055136; AAC26019.1; -; Genomic_DNA. DR EMBL; AF055114; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055115; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055116; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055117; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055118; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055119; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055120; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055121; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055122; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055123; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055124; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055125; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055126; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055127; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055128; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055129; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055130; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055131; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055132; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055133; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055134; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AF055135; AAC26019.1; JOINED; Genomic_DNA. DR EMBL; AP000646; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AP000826; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR CCDS; CCDS8434.1; -. DR RefSeq; NP_005413.2; NM_005422.2. DR AlphaFoldDB; O75443; -. DR SMR; O75443; -. DR BioGRID; 112866; 8. DR IntAct; O75443; 2. DR MINT; O75443; -. DR STRING; 9606.ENSP00000376543; -. DR TCDB; 9.B.87.1.35; the selenoprotein p receptor (selp-receptor) family. DR GlyCosmos; O75443; 30 sites, No reported glycans. DR GlyGen; O75443; 30 sites. DR iPTMnet; O75443; -. DR PhosphoSitePlus; O75443; -. DR BioMuta; TECTA; -. DR MassIVE; O75443; -. DR PaxDb; 9606-ENSP00000376543; -. DR PeptideAtlas; O75443; -. DR ProteomicsDB; 50008; -. DR Antibodypedia; 18890; 33 antibodies from 15 providers. DR DNASU; 7007; -. DR Ensembl; ENST00000264037.2; ENSP00000264037.2; ENSG00000109927.11. DR Ensembl; ENST00000392793.6; ENSP00000376543.1; ENSG00000109927.11. DR GeneID; 7007; -. DR KEGG; hsa:7007; -. DR MANE-Select; ENST00000392793.6; ENSP00000376543.1; NM_005422.4; NP_005413.2. DR UCSC; uc010rzo.2; human. DR AGR; HGNC:11720; -. DR CTD; 7007; -. DR DisGeNET; 7007; -. DR GeneCards; TECTA; -. DR GeneReviews; TECTA; -. DR HGNC; HGNC:11720; TECTA. DR HPA; ENSG00000109927; Low tissue specificity. DR MalaCards; TECTA; -. DR MIM; 601543; phenotype. DR MIM; 602574; gene. DR MIM; 603629; phenotype. DR neXtProt; NX_O75443; -. DR OpenTargets; ENSG00000109927; -. DR Orphanet; 90635; Rare autosomal dominant non-syndromic sensorineural deafness type DFNA. DR Orphanet; 90636; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB. DR VEuPathDB; HostDB:ENSG00000109927; -. DR eggNOG; KOG1216; Eukaryota. DR eggNOG; KOG4291; Eukaryota. DR GeneTree; ENSGT00950000183155; -. DR HOGENOM; CLU_001423_0_0_1; -. DR InParanoid; O75443; -. DR OMA; RVQTGCV; -. DR OrthoDB; 2872912at2759; -. DR PhylomeDB; O75443; -. DR TreeFam; TF300299; -. DR PathwayCommons; O75443; -. DR Reactome; R-HSA-163125; Post-translational modification: synthesis of GPI-anchored proteins. DR SignaLink; O75443; -. DR BioGRID-ORCS; 7007; 5 hits in 1145 CRISPR screens. DR ChiTaRS; TECTA; human. DR GeneWiki; TECTA; -. DR GenomeRNAi; 7007; -. DR Pharos; O75443; Tbio. DR PRO; PR:O75443; -. DR Proteomes; UP000005640; Chromosome 11. DR RNAct; O75443; Protein. DR Bgee; ENSG00000109927; Expressed in oocyte and 132 other cell types or tissues. DR ExpressionAtlas; O75443; baseline and differential. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central. DR GO; GO:0005576; C:extracellular region; TAS:Reactome. DR GO; GO:0005886; C:plasma membrane; TAS:Reactome. DR GO; GO:0098552; C:side of membrane; IEA:UniProtKB-KW. DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central. DR GO; GO:0060088; P:auditory receptor cell stereocilium organization; IEA:Ensembl. DR GO; GO:0007160; P:cell-matrix adhesion; IEA:InterPro. DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc. DR CDD; cd19941; TIL; 3. DR Gene3D; 2.10.25.10; Laminin; 4. DR Gene3D; 2.60.40.4100; Zona pellucida, ZP-C domain; 1. DR Gene3D; 2.60.40.3210; Zona pellucida, ZP-N domain; 1. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR003886; NIDO_dom. DR InterPro; IPR036084; Ser_inhib-like_sf. DR InterPro; IPR002919; TIL_dom. DR InterPro; IPR025615; TILa_dom. DR InterPro; IPR014853; VWF/SSPO/ZAN-like_Cys-rich_dom. DR InterPro; IPR001007; VWF_dom. DR InterPro; IPR001846; VWF_type-D. DR InterPro; IPR042235; ZP-C. DR InterPro; IPR001507; ZP_dom. DR InterPro; IPR017977; ZP_dom_CS. DR PANTHER; PTHR46160:SF3; ALPHA-TECTORIN; 1. DR PANTHER; PTHR46160; ALPHA-TECTORIN-RELATED; 1. DR Pfam; PF08742; C8; 4. DR Pfam; PF06119; NIDO; 1. DR Pfam; PF01826; TIL; 3. DR Pfam; PF12714; TILa; 2. DR Pfam; PF00094; VWD; 4. DR Pfam; PF00100; Zona_pellucida; 1. DR SMART; SM00832; C8; 4. DR SMART; SM00181; EGF; 3. DR SMART; SM00539; NIDO; 1. DR SMART; SM00215; VWC_out; 3. DR SMART; SM00216; VWD; 4. DR SMART; SM00241; ZP; 1. DR SUPFAM; SSF57567; Serine protease inhibitors; 3. DR PROSITE; PS51220; NIDO; 1. DR PROSITE; PS51233; VWFD; 4. DR PROSITE; PS00682; ZP_1; 1. DR PROSITE; PS51034; ZP_2; 1. DR Genevisible; O75443; HS. PE 1: Evidence at protein level; KW Cell membrane; Deafness; Disease variant; Disulfide bond; KW Extracellular matrix; Glycoprotein; GPI-anchor; Hearing; Lipoprotein; KW Membrane; Non-syndromic deafness; Reference proteome; Repeat; Secreted; KW Signal. FT SIGNAL 1..22 FT /evidence="ECO:0000255" FT CHAIN 23..2091 FT /note="Alpha-tectorin" FT /id="PRO_0000041735" FT PROPEP 2092..2155 FT /note="Removed in mature form" FT /evidence="ECO:0000255" FT /id="PRO_0000041736" FT DOMAIN 98..252 FT /note="NIDO" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00570" FT DOMAIN 260..314 FT /note="VWFC" FT DOMAIN 320..500 FT /note="VWFD 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DOMAIN 597..650 FT /note="TIL 1" FT DOMAIN 711..886 FT /note="VWFD 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DOMAIN 984..1036 FT /note="TIL 2" FT DOMAIN 1098..1278 FT /note="VWFD 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DOMAIN 1372..1425 FT /note="TIL 3" FT DOMAIN 1485..1666 FT /note="VWFD 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DOMAIN 1805..2059 FT /note="ZP" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00375" FT LIPID 2091 FT /note="GPI-anchor amidated asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 34 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 187 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 215 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 278 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 455 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 506 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 528 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 560 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 670 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 687 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 813 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 843 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 855 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 898 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 920 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 931 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 949 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1048 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1235 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1364 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1538 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1565 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1756 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1772 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1794 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1851 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1864 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1880 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1920 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1939 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 322..461 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 344..499 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 713..849 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 1100..1241 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 1122..1277 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 1487..1622 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 1509..1665 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 1717..1775 FT /evidence="ECO:0000250|UniProtKB:P07911" FT DISULFID 1741..1784 FT /evidence="ECO:0000250|UniProtKB:P07911" FT DISULFID 1786..1818 FT /evidence="ECO:0000250|UniProtKB:P07911" FT DISULFID 1806..1898 FT /evidence="ECO:0000250|UniProtKB:P07911" FT DISULFID 1837..1857 FT /evidence="ECO:0000250|UniProtKB:P07911" FT DISULFID 1980..2040 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00580" FT DISULFID 2001..2056 FT /evidence="ECO:0000250|UniProtKB:P07911" FT DISULFID 2045..2052 FT /evidence="ECO:0000250|UniProtKB:P07911" FT VARIANT 19 FT /note="Q -> R (in dbSNP:rs35507522)" FT /id="VAR_057500" FT VARIANT 197 FT /note="D -> N (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066076" FT VARIANT 211 FT /note="F -> S (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066077" FT VARIANT 284 FT /note="R -> H (in a breast cancer sample; somatic mutation; FT dbSNP:rs886047837)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036423" FT VARIANT 317 FT /note="V -> E (in DFNA12)" FT /evidence="ECO:0000269|PubMed:20947814" FT /id="VAR_066078" FT VARIANT 362 FT /note="S -> C (in DFNA12; dbSNP:rs779123206)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066079" FT VARIANT 371 FT /note="R -> G (in dbSNP:rs612969)" FT /evidence="ECO:0000269|PubMed:10987647, FT ECO:0000269|PubMed:9590290" FT /id="VAR_018968" FT VARIANT 465 FT /note="N -> K (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066080" FT VARIANT 562 FT /note="T -> M (in DFNA12; dbSNP:rs779401654)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066081" FT VARIANT 771 FT /note="I -> N (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036424" FT VARIANT 813 FT /note="N -> T (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_036425" FT VARIANT 815 FT /note="T -> M (in DFNA12; dbSNP:rs111759871)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066082" FT VARIANT 886 FT /note="N -> S (in DFNA12; dbSNP:rs146175803)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066083" FT VARIANT 932 FT /note="V -> A (in dbSNP:rs520805)" FT /evidence="ECO:0000269|PubMed:10987647, FT ECO:0000269|PubMed:9590290" FT /id="VAR_018969" FT VARIANT 1036 FT /note="C -> Y (in DFNA12; dbSNP:rs772606235)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066084" FT VARIANT 1057 FT /note="C -> S (in DFNA12; progressive deafness with late FT onset; dbSNP:rs121909059)" FT /evidence="ECO:0000269|PubMed:10987647" FT /id="VAR_018970" FT VARIANT 1098 FT /note="A -> V (in DFNA12; dbSNP:rs761524812)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066085" FT VARIANT 1136 FT /note="D -> H (in DFNA12; dbSNP:rs147890616)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066086" FT VARIANT 1248 FT /note="P -> L (in DFNA12; dbSNP:rs138768918)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066087" FT VARIANT 1509 FT /note="C -> G (in DFNA12)" FT /evidence="ECO:0000269|PubMed:15319541" FT /id="VAR_066088" FT VARIANT 1517 FT /note="C -> R (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066089" FT VARIANT 1584 FT /note="S -> T (in dbSNP:rs34963131)" FT /id="VAR_057501" FT VARIANT 1619 FT /note="C -> S (in DFNA12; dbSNP:rs121909060)" FT /evidence="ECO:0000269|PubMed:10196713" FT /id="VAR_018971" FT VARIANT 1724 FT /note="S -> N (in dbSNP:rs526433)" FT /evidence="ECO:0000269|PubMed:9590290" FT /id="VAR_018972" FT VARIANT 1791 FT /note="P -> R (in DFNA12; dbSNP:rs754213928)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066090" FT VARIANT 1820 FT /note="L -> F (in DFNA12; prelingual and stable deafness; FT dbSNP:rs281865415)" FT /evidence="ECO:0000269|PubMed:9590290" FT /id="VAR_018973" FT VARIANT 1824 FT /note="G -> D (in DFNA12; prelingual and stable deafness; FT dbSNP:rs267607107)" FT /evidence="ECO:0000269|PubMed:9590290" FT /id="VAR_018974" FT VARIANT 1837 FT /note="C -> G (in DFNA12; postlingual and progressive; FT dbSNP:rs121909061)" FT /evidence="ECO:0000269|PubMed:11333869, FT ECO:0000269|PubMed:21520338" FT /id="VAR_018975" FT VARIANT 1837 FT /note="C -> R (in DFNA12; dbSNP:rs121909061)" FT /evidence="ECO:0000269|PubMed:17661817" FT /id="VAR_066091" FT VARIANT 1866 FT /note="T -> M (in DFNA12; dbSNP:rs140236996)" FT /evidence="ECO:0000269|PubMed:20947814, FT ECO:0000269|PubMed:21520338" FT /id="VAR_066092" FT VARIANT 1867 FT /note="H -> R (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066093" FT VARIANT 1870 FT /note="Y -> C (in DFNA12; prelingual and stable deafness; FT dbSNP:rs121909058)" FT /evidence="ECO:0000269|PubMed:9590290" FT /id="VAR_018976" FT VARIANT 1878 FT /note="S -> R (in dbSNP:rs202045605)" FT /id="VAR_059965" FT VARIANT 1890 FT /note="R -> C (in DFNA12; dbSNP:rs121909063)" FT /evidence="ECO:0000269|PubMed:16718611, FT ECO:0000269|PubMed:21520338" FT /id="VAR_066094" FT VARIANT 1898 FT /note="C -> R (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066095" FT VARIANT 1947 FT /note="R -> C (in DFNA12; dbSNP:rs1428598791)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066096" FT VARIANT 2009 FT /note="I -> T (in DFNA12)" FT /evidence="ECO:0000269|PubMed:21520338" FT /id="VAR_066097" FT VARIANT 2021 FT /note="R -> H (in DFNA12; prelingual and stable deafness; FT dbSNP:rs121909062)" FT /evidence="ECO:0000269|PubMed:12162770" FT /id="VAR_018977" FT VARIANT 2100 FT /note="S -> T" FT /evidence="ECO:0000269|PubMed:10987647" FT /id="VAR_018978" SQ SEQUENCE 2155 AA; 239527 MW; A7CB1CD9E7C594C3 CRC64; 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 //