TECTA_HUMAN
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 03-AUG-2022, entry version 182.
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:10196713, ECO:0000269|PubMed:10987647,
CC ECO:0000269|PubMed:12162770, ECO:0000269|PubMed:15319541,
CC ECO:0000269|PubMed:16718611, ECO:0000269|PubMed:17661817,
CC ECO:0000269|PubMed:20947814, ECO:0000269|PubMed:21520338,
CC ECO:0000269|PubMed:9590290}. Note=The disease is caused by variants
CC affecting the gene represented 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.
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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; 1.
DR MINT; O75443; -.
DR STRING; 9606.ENSP00000376543; -.
DR GlyGen; O75443; 30 sites.
DR iPTMnet; O75443; -.
DR PhosphoSitePlus; O75443; -.
DR BioMuta; TECTA; -.
DR MassIVE; O75443; -.
DR PaxDb; O75443; -.
DR PeptideAtlas; O75443; -.
DR PRIDE; O75443; -.
DR ProteomicsDB; 50008; -.
DR Antibodypedia; 18890; 31 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 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; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR Orphanet; 90636; 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; CTLRCTC; -.
DR OrthoDB; 22053at2759; -.
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 1068 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 130 other tissues.
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: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:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR GO; GO:0007160; P:cell-matrix adhesion; IEA:InterPro.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR Gene3D; 2.60.40.4100; -; 1.
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; IPR042235; ZP-C.
DR InterPro; IPR001507; ZP_dom.
DR InterPro; IPR017977; ZP_dom_CS.
DR PANTHER; PTHR46160:SF3; PTHR46160:SF3; 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; 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
