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 13-FEB-2019, entry version 165. DE RecName: Full=Alpha-tectorin; DE Flags: Precursor; GN Name=TECTA; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNA12 PHE-1820; ASP-1824 RP AND 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., RA Govaerts P.J., Van Camp G.; RT "Mutations in the human alpha-tectorin gene cause autosomal dominant RT non-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., RA Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., RA FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S., RA Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., RA Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., RA 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., RA DeLuca A.P., Scheetz T.E., Drummond J., Scherer S.E., Legan P.K., RA Goodyear R.J., Richardson G.P., Cheatham M.A., Smith R.J., Dallos P.; RT "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts RT with alpha-tectorin and is mutated in autosomal dominant hearing loss RT (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 RT with 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., RA Borg E., 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., RA Beckmann J.S., 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- RT tectorin results in autosomal dominant, postlingual, progressive, mid RT frequency 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 RT with 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., RA Friedman T.B., Griffith A.J., Wilcox E.R., Riazuddin S.; RT "Distinctive audiometric profile associated with DFNB21 alleles of RT 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 RT impairment 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., RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., RA Vogelstein B., Kinzler K.W., Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal RT 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 RT in a 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 RT with 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 RP 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., RA Workman H., DeLuca A.P., del Castillo I., Taylor K.R., Tompkins B., RA Goodman C.W., Schrauwen I., Wesemael M.V., Lachlan K., Shearer A.E., RA Braun T.A., Huygen P.L., Kremer H., Van Camp G., Moreno F., RA Casavant T.L., Smith R.J., 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 CC tectorial membrane (By similarity). The tectorial membrane is an CC extracellular matrix of the inner ear that covers the CC neuroepithelium of the cochlea and contacts the stereocilia CC bundles of specialized sensory hair cells. Sound induces movement CC of these hair cells relative to the tectorial membrane, deflects CC the stereocilia and leads to fluctuations in hair-cell membrane CC 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. CC Interacts with CEACAM16. {ECO:0000269|PubMed:21368133}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, CC GPI-anchor {ECO:0000305}; Extracellular side {ECO:0000305}. CC Secreted, extracellular space, extracellular matrix. Note=Found in CC the non-collagenous matrix of the tectorial membrane. CC {ECO:0000250}. CC -!- DOMAIN: Zona pellucida domain may enable to form filaments. CC -!- PTM: The presence of a hydrophobic C-terminus preceded by a CC potential cleavage site strongly suggests that tectorins are CC synthesized as glycosylphosphatidylinositol-linked, membrane-bound CC precursors. Tectorins are targeted to the apical surface of the CC inner ear epithelia by the lipid and proteolytically released into CC the extracellular compartment. CC -!- DISEASE: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A CC form of non-syndromic sensorineural hearing loss. Sensorineural CC deafness results from damage to the neural receptors of the inner CC ear, the nerve pathways to the brain, or the area of the brain CC that receives sound information. {ECO:0000269|PubMed:10196713, CC ECO:0000269|PubMed:10987647, ECO:0000269|PubMed:12162770, CC ECO:0000269|PubMed:15319541, ECO:0000269|PubMed:16718611, CC ECO:0000269|PubMed:17661817, ECO:0000269|PubMed:20947814, CC ECO:0000269|PubMed:21520338, ECO:0000269|PubMed:9590290}. Note=The CC disease is caused by mutations affecting the gene represented in CC this entry. CC -!- DISEASE: Deafness, autosomal recessive, 21 (DFNB21) [MIM:603629]: CC A form of non-syndromic sensorineural hearing loss. Sensorineural CC deafness results from damage to the neural receptors of the inner CC ear, the nerve pathways to the brain, or the area of the brain CC that receives sound information. {ECO:0000269|PubMed:12746400, CC ECO:0000269|PubMed:9949200}. Note=The disease is caused by CC mutations 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 UniGene; Hs.248162; -. DR ProteinModelPortal; O75443; -. DR SMR; O75443; -. DR BioGrid; 112866; 1. DR IntAct; O75443; 1. DR MINT; O75443; -. DR STRING; 9606.ENSP00000264037; -. DR iPTMnet; O75443; -. DR PhosphoSitePlus; O75443; -. DR BioMuta; TECTA; -. DR jPOST; O75443; -. DR PaxDb; O75443; -. DR PeptideAtlas; O75443; -. DR PRIDE; O75443; -. DR ProteomicsDB; 50008; -. DR DNASU; 7007; -. DR Ensembl; ENST00000264037; ENSP00000264037; ENSG00000109927. DR Ensembl; ENST00000392793; ENSP00000376543; ENSG00000109927. DR GeneID; 7007; -. DR KEGG; hsa:7007; -. DR UCSC; uc010rzo.2; human. DR CTD; 7007; -. DR DisGeNET; 7007; -. DR EuPathDB; HostDB:ENSG00000109927.9; -. DR GeneCards; TECTA; -. DR GeneReviews; TECTA; -. DR HGNC; HGNC:11720; TECTA. DR HPA; HPA018870; -. 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; Autosomal dominant non-syndromic sensorineural deafness type DFNA. DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB. DR eggNOG; KOG1216; Eukaryota. DR eggNOG; KOG4291; Eukaryota. DR eggNOG; ENOG410YR2E; LUCA. DR GeneTree; ENSGT00940000154874; -. DR HOGENOM; HOG000168220; -. DR HOVERGEN; HBG079244; -. DR InParanoid; O75443; -. DR KO; K18273; -. DR OMA; SCNELQY; -. DR OrthoDB; 22053at2759; -. DR PhylomeDB; O75443; -. DR TreeFam; TF300299; -. DR Reactome; R-HSA-163125; Post-translational modification: synthesis of GPI-anchored proteins. DR GeneWiki; TECTA; -. DR GenomeRNAi; 7007; -. DR PRO; PR:O75443; -. DR Proteomes; UP000005640; Chromosome 11. DR Bgee; ENSG00000109927; Expressed in 138 organ(s), highest expression level in oocyte. DR ExpressionAtlas; O75443; baseline and differential. DR Genevisible; O75443; HS. DR GO; GO:0031225; C:anchored component of membrane; IEA:UniProtKB-KW. DR GO; GO:0062023; C:collagen-containing extracellular matrix; IEA:InterPro. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0005576; C:extracellular region; TAS:Reactome. DR GO; GO:0005886; C:plasma membrane; TAS:Reactome. DR GO; GO:0005201; F:extracellular matrix structural constituent; IEA:Ensembl. DR GO; GO:0007160; P:cell-matrix adhesion; IEA:InterPro. DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR003886; NIDO_dom. DR InterPro; IPR036084; Ser_inhib-like_sf. DR InterPro; IPR033026; TECTA. DR InterPro; IPR002919; TIL_dom. DR InterPro; IPR025615; TILa_dom. DR InterPro; IPR014853; Unchr_dom_Cys-rich. DR InterPro; IPR001007; VWF_dom. DR InterPro; IPR001846; VWF_type-D. DR InterPro; IPR001507; ZP_dom. DR InterPro; IPR017977; ZP_dom_CS. DR PANTHER; PTHR11339:SF235; PTHR11339:SF235; 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; SSF57567; 3. DR PROSITE; PS51220; NIDO; 1. DR PROSITE; PS51233; VWFD; 4. DR PROSITE; PS00682; ZP_1; 1. DR PROSITE; PS51034; ZP_2; 1. PE 1: Evidence at protein level; KW Cell membrane; Complete proteome; Deafness; Disease mutation; KW Disulfide bond; Extracellular matrix; Glycoprotein; GPI-anchor; KW Hearing; Lipoprotein; Membrane; Non-syndromic deafness; Polymorphism; KW Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1 22 {ECO:0000255}. FT CHAIN 23 2091 Alpha-tectorin. FT /FTId=PRO_0000041735. FT PROPEP 2092 2155 Removed in mature form. {ECO:0000255}. FT /FTId=PRO_0000041736. FT DOMAIN 98 252 NIDO. {ECO:0000255|PROSITE- FT ProRule:PRU00570}. FT DOMAIN 260 314 VWFC. FT DOMAIN 321 540 VWFD 1. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 597 650 TIL 1. FT DOMAIN 712 929 VWFD 2. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 984 1036 TIL 2. FT DOMAIN 1099 1317 VWFD 3. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 1372 1425 TIL 3. FT DOMAIN 1486 1694 VWFD 4. {ECO:0000255|PROSITE- FT ProRule:PRU00580}. FT DOMAIN 1805 2059 ZP. {ECO:0000255|PROSITE- FT ProRule:PRU00375}. FT LIPID 2091 2091 GPI-anchor amidated asparagine. FT {ECO:0000255}. FT CARBOHYD 34 34 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 187 187 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 215 215 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 278 278 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 455 455 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 506 506 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 528 528 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 560 560 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 670 670 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 687 687 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 813 813 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 843 843 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 855 855 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 898 898 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 920 920 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 931 931 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 949 949 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1048 1048 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1235 1235 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1364 1364 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1538 1538 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1565 1565 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1756 1756 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1772 1772 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1794 1794 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1851 1851 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1864 1864 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1880 1880 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1920 1920 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 1939 1939 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT DISULFID 1717 1775 {ECO:0000250|UniProtKB:P07911}. FT DISULFID 1741 1784 {ECO:0000250|UniProtKB:P07911}. FT DISULFID 1786 1818 {ECO:0000250|UniProtKB:P07911}. FT DISULFID 1806 1898 {ECO:0000250|UniProtKB:P07911}. FT DISULFID 1837 1857 {ECO:0000250|UniProtKB:P07911}. FT DISULFID 1980 2040 {ECO:0000255|PROSITE-ProRule:PRU00580}. FT DISULFID 2001 2056 {ECO:0000250|UniProtKB:P07911}. FT DISULFID 2045 2052 {ECO:0000250|UniProtKB:P07911}. FT VARIANT 19 19 Q -> R (in dbSNP:rs35507522). FT /FTId=VAR_057500. FT VARIANT 197 197 D -> N (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066076. FT VARIANT 211 211 F -> S (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066077. FT VARIANT 284 284 R -> H (in a breast cancer sample; FT somatic mutation; dbSNP:rs886047837). FT {ECO:0000269|PubMed:16959974}. FT /FTId=VAR_036423. FT VARIANT 317 317 V -> E (in DFNA12). FT {ECO:0000269|PubMed:20947814}. FT /FTId=VAR_066078. FT VARIANT 362 362 S -> C (in DFNA12; dbSNP:rs779123206). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066079. FT VARIANT 371 371 R -> G (in dbSNP:rs612969). FT {ECO:0000269|PubMed:10987647, FT ECO:0000269|PubMed:9590290}. FT /FTId=VAR_018968. FT VARIANT 465 465 N -> K (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066080. FT VARIANT 562 562 T -> M (in DFNA12; dbSNP:rs779401654). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066081. FT VARIANT 771 771 I -> N (in a breast cancer sample; FT somatic mutation). FT {ECO:0000269|PubMed:16959974}. FT /FTId=VAR_036424. FT VARIANT 813 813 N -> T (in a breast cancer sample; FT somatic mutation). FT {ECO:0000269|PubMed:16959974}. FT /FTId=VAR_036425. FT VARIANT 815 815 T -> M (in DFNA12; dbSNP:rs111759871). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066082. FT VARIANT 886 886 N -> S (in DFNA12; dbSNP:rs146175803). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066083. FT VARIANT 932 932 V -> A (in dbSNP:rs520805). FT {ECO:0000269|PubMed:10987647, FT ECO:0000269|PubMed:9590290}. FT /FTId=VAR_018969. FT VARIANT 1036 1036 C -> Y (in DFNA12; dbSNP:rs772606235). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066084. FT VARIANT 1057 1057 C -> S (in DFNA12; progressive deafness FT with late onset; dbSNP:rs121909059). FT {ECO:0000269|PubMed:10987647}. FT /FTId=VAR_018970. FT VARIANT 1098 1098 A -> V (in DFNA12; dbSNP:rs761524812). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066085. FT VARIANT 1136 1136 D -> H (in DFNA12; dbSNP:rs147890616). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066086. FT VARIANT 1248 1248 P -> L (in DFNA12; dbSNP:rs138768918). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066087. FT VARIANT 1509 1509 C -> G (in DFNA12). FT {ECO:0000269|PubMed:15319541}. FT /FTId=VAR_066088. FT VARIANT 1517 1517 C -> R (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066089. FT VARIANT 1584 1584 S -> T (in dbSNP:rs34963131). FT /FTId=VAR_057501. FT VARIANT 1619 1619 C -> S (in DFNA12; dbSNP:rs121909060). FT {ECO:0000269|PubMed:10196713}. FT /FTId=VAR_018971. FT VARIANT 1724 1724 S -> N (in dbSNP:rs526433). FT {ECO:0000269|PubMed:9590290}. FT /FTId=VAR_018972. FT VARIANT 1791 1791 P -> R (in DFNA12; dbSNP:rs754213928). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066090. FT VARIANT 1820 1820 L -> F (in DFNA12; prelingual and stable FT deafness; dbSNP:rs281865415). FT {ECO:0000269|PubMed:9590290}. FT /FTId=VAR_018973. FT VARIANT 1824 1824 G -> D (in DFNA12; prelingual and stable FT deafness; dbSNP:rs267607107). FT {ECO:0000269|PubMed:9590290}. FT /FTId=VAR_018974. FT VARIANT 1837 1837 C -> G (in DFNA12; postlingual and FT progressive; dbSNP:rs121909061). FT {ECO:0000269|PubMed:11333869, FT ECO:0000269|PubMed:21520338}. FT /FTId=VAR_018975. FT VARIANT 1837 1837 C -> R (in DFNA12; dbSNP:rs121909061). FT {ECO:0000269|PubMed:17661817}. FT /FTId=VAR_066091. FT VARIANT 1866 1866 T -> M (in DFNA12; dbSNP:rs140236996). FT {ECO:0000269|PubMed:20947814, FT ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066092. FT VARIANT 1867 1867 H -> R (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066093. FT VARIANT 1870 1870 Y -> C (in DFNA12; prelingual and stable FT deafness; dbSNP:rs121909058). FT {ECO:0000269|PubMed:9590290}. FT /FTId=VAR_018976. FT VARIANT 1878 1878 S -> R (in dbSNP:rs202045605). FT /FTId=VAR_059965. FT VARIANT 1890 1890 R -> C (in DFNA12; dbSNP:rs121909063). FT {ECO:0000269|PubMed:16718611, FT ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066094. FT VARIANT 1898 1898 C -> R (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066095. FT VARIANT 1947 1947 R -> C (in DFNA12; dbSNP:rs1428598791). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066096. FT VARIANT 2009 2009 I -> T (in DFNA12). FT {ECO:0000269|PubMed:21520338}. FT /FTId=VAR_066097. FT VARIANT 2021 2021 R -> H (in DFNA12; prelingual and stable FT deafness; dbSNP:rs121909062). FT {ECO:0000269|PubMed:12162770}. FT /FTId=VAR_018977. FT VARIANT 2100 2100 S -> T. {ECO:0000269|PubMed:10987647}. FT /FTId=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 //