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O75443

- TECTA_HUMAN

UniProt

O75443 - TECTA_HUMAN

Protein

Alpha-tectorin

Gene

TECTA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 3 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    One of the major non-collagenous components of the tectorial membrane By similarity. The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.By similarity

    GO - Biological processi

    1. cell-matrix adhesion Source: InterPro
    2. sensory perception of sound Source: ProtInc

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha-tectorin
    Gene namesi
    Name:TECTA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:11720. TECTA.

    Subcellular locationi

    Cell membrane Curated; Lipid-anchorGPI-anchor Curated; Extracellular side Curated. Secretedextracellular spaceextracellular matrix
    Note: Found in the non-collagenous matrix of the tectorial membrane.By similarity

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. extracellular vesicular exosome Source: UniProt
    3. plasma membrane Source: UniProtKB-SubCell
    4. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Extracellular matrix, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti197 – 1971D → N in DFNA12. 1 Publication
    VAR_066076
    Natural varianti211 – 2111F → S in DFNA12. 1 Publication
    VAR_066077
    Natural varianti317 – 3171V → E in DFNA12. 1 Publication
    VAR_066078
    Natural varianti362 – 3621S → C in DFNA12. 1 Publication
    VAR_066079
    Natural varianti465 – 4651N → K in DFNA12. 1 Publication
    VAR_066080
    Natural varianti562 – 5621T → M in DFNA12. 1 Publication
    VAR_066081
    Natural varianti815 – 8151T → M in DFNA12. 1 Publication
    VAR_066082
    Natural varianti886 – 8861N → S in DFNA12. 1 Publication
    VAR_066083
    Natural varianti1036 – 10361C → Y in DFNA12. 1 Publication
    VAR_066084
    Natural varianti1057 – 10571C → S in DFNA12; progressive deafness with late onset. 1 Publication
    VAR_018970
    Natural varianti1098 – 10981A → V in DFNA12. 1 Publication
    VAR_066085
    Natural varianti1136 – 11361D → H in DFNA12. 1 Publication
    Corresponds to variant rs147890616 [ dbSNP | Ensembl ].
    VAR_066086
    Natural varianti1248 – 12481P → L in DFNA12. 1 Publication
    Corresponds to variant rs138768918 [ dbSNP | Ensembl ].
    VAR_066087
    Natural varianti1509 – 15091C → G in DFNA12. 1 Publication
    VAR_066088
    Natural varianti1517 – 15171C → R in DFNA12. 1 Publication
    VAR_066089
    Natural varianti1619 – 16191C → S in DFNA12. 1 Publication
    Corresponds to variant rs28939691 [ dbSNP | Ensembl ].
    VAR_018971
    Natural varianti1791 – 17911P → R in DFNA12. 1 Publication
    VAR_066090
    Natural varianti1820 – 18201L → F in DFNA12; prelingual and stable deafness. 1 Publication
    VAR_018973
    Natural varianti1824 – 18241G → D in DFNA12; prelingual and stable deafness. 1 Publication
    VAR_018974
    Natural varianti1837 – 18371C → G in DFNA12; postlingual and progressive. 2 Publications
    VAR_018975
    Natural varianti1837 – 18371C → R in DFNA12. 1 Publication
    VAR_066091
    Natural varianti1866 – 18661T → M in DFNA12. 2 Publications
    VAR_066092
    Natural varianti1867 – 18671H → R in DFNA12. 1 Publication
    VAR_066093
    Natural varianti1870 – 18701Y → C in DFNA12; prelingual and stable deafness. 1 Publication
    Corresponds to variant rs28939690 [ dbSNP | Ensembl ].
    VAR_018976
    Natural varianti1890 – 18901R → C in DFNA12. 2 Publications
    VAR_066094
    Natural varianti1898 – 18981C → R in DFNA12. 1 Publication
    VAR_066095
    Natural varianti1947 – 19471R → C in DFNA12. 1 Publication
    VAR_066096
    Natural varianti2009 – 20091I → T in DFNA12. 1 Publication
    VAR_066097
    Natural varianti2021 – 20211R → H in DFNA12; prelingual and stable deafness. 1 Publication
    VAR_018977
    Deafness, autosomal recessive, 21 (DFNB21) [MIM:603629]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi601543. phenotype.
    603629. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 20912069Alpha-tectorinPRO_0000041735Add
    BLAST
    Propeptidei2092 – 215564Removed in mature formSequence AnalysisPRO_0000041736Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi34 – 341N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi187 – 1871N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi215 – 2151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi278 – 2781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi455 – 4551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi506 – 5061N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi528 – 5281N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi560 – 5601N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi670 – 6701N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi687 – 6871N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi813 – 8131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi843 – 8431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi855 – 8551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi898 – 8981N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi920 – 9201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi931 – 9311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi949 – 9491N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1048 – 10481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1235 – 12351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1364 – 13641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1538 – 15381N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1565 – 15651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1756 – 17561N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1772 – 17721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1794 – 17941N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1851 – 18511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1864 – 18641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1880 – 18801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1920 – 19201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1939 – 19391N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1980 ↔ 2040PROSITE-ProRule annotation
    Lipidationi2091 – 20911GPI-anchor amidated asparagineSequence Analysis

    Post-translational modificationi

    The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment.

    Keywords - PTMi

    Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    PaxDbiO75443.
    PRIDEiO75443.

    PTM databases

    PhosphoSiteiO75443.

    Expressioni

    Gene expression databases

    BgeeiO75443.
    CleanExiHS_TECTA.
    GenevestigatoriO75443.

    Organism-specific databases

    HPAiHPA018870.

    Interactioni

    Subunit structurei

    May form homomeric filament after self-association or heteromeric filament after association with beta-tectorin. Interacts with CEACAM16.1 Publication

    Protein-protein interaction databases

    STRINGi9606.ENSP00000264037.

    Structurei

    3D structure databases

    ProteinModelPortaliO75443.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini98 – 252155NIDOPROSITE-ProRule annotationAdd
    BLAST
    Domaini260 – 31455VWFCAdd
    BLAST
    Domaini321 – 540220VWFD 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini597 – 65054TIL 1Add
    BLAST
    Domaini712 – 929218VWFD 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini984 – 103653TIL 2Add
    BLAST
    Domaini1099 – 1317219VWFD 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1372 – 142554TIL 3Add
    BLAST
    Domaini1486 – 1694209VWFD 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini1805 – 2059255ZPPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    Zona pellucida domain may enable to form filaments.

    Sequence similaritiesi

    Contains 1 NIDO domain.PROSITE-ProRule annotation
    Contains 1 VWFC domain.Curated
    Contains 4 VWFD domains.PROSITE-ProRule annotation
    Contains 1 ZP domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG317991.
    HOGENOMiHOG000168220.
    HOVERGENiHBG079244.
    InParanoidiO75443.
    KOiK18273.
    OMAiYLTFDGY.
    OrthoDBiEOG7SJD3N.
    PhylomeDBiO75443.
    TreeFamiTF300299.

    Family and domain databases

    InterProiIPR000742. EG-like_dom.
    IPR003886. Nidogen_extracell_dom.
    IPR002919. TIL_dom.
    IPR025615. TILa_dom.
    IPR014853. Unchr_dom_Cys-rich.
    IPR006552. VWC_out.
    IPR001007. VWF_C.
    IPR001846. VWF_type-D.
    IPR001507. ZP_dom.
    IPR017977. ZP_dom_CS.
    [Graphical view]
    PfamiPF08742. C8. 4 hits.
    PF06119. NIDO. 1 hit.
    PF01826. TIL. 3 hits.
    PF12714. TILa. 2 hits.
    PF00094. VWD. 4 hits.
    PF00100. Zona_pellucida. 1 hit.
    [Graphical view]
    SMARTiSM00832. C8. 4 hits.
    SM00181. EGF. 1 hit.
    SM00539. NIDO. 1 hit.
    SM00214. VWC. 1 hit.
    SM00215. VWC_out. 1 hit.
    SM00216. VWD. 4 hits.
    SM00241. ZP. 1 hit.
    [Graphical view]
    SUPFAMiSSF57567. SSF57567. 3 hits.
    PROSITEiPS51220. NIDO. 1 hit.
    PS51233. VWFD. 4 hits.
    PS00682. ZP_1. 1 hit.
    PS51034. ZP_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O75443-1 [UniParc]FASTAAdd to Basket

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    MNYSSFLRIW VSFIFALVQH QAQPRELMYP FWQNDTKTPK VDDGSSSEIK     50
    LAIPVFFFGV PYRTVYVNNN GVVSFNVLVS QFTPESFPLT DGRAFVAPFW 100
    ADVHNGIRGE IYYRETMEPA ILKRATKDIR KYFKDMATFS ATWVFIVTWE 150
    EVTFYGGSST TPVNTFQAVL VSDGSYTFTL FNYYEINWTT GTASGGDPLT 200
    GLGGVMAQAG FNGGNLTNFF SLPGSRTPEI VNIQETTNVN VPGRWAFKVD 250
    GKEIDPANGC TSRGQFLRRG EVFWDDLNCT VKCRCLDFNN EIYCQEASCS 300
    PYEVCEPKGK FFYCSAVETS TCVVFGEPHY HTFDGFLFHF QGSCAYLLAR 350
    QCLQTSSLPF FSVEAKNEHR RGSAVSWVKE LSVEVNGYKI LIPKGSYGRV 400
    KVNDLVTSLP VTLDLGTVKI YQSGISTAVE TDFGLLVTFD GQHYASISVP 450
    GSYINSTCGL CGNYNKNPLD DFLRPDGRPA MSVLDLGESW RVYHADWKCD 500
    SGCVDNCTQC DAATEALYFG SDYCGFLNKT DGPLWECGTV VDPTAFVHSC 550
    VYDLCSVRDN GTLLCQAIQA YALVCQALGI PIGDWRTQTG CVSTVQCPSF 600
    SHYSVCTSSC PDTCSDLTAS RNCATPCTEG CECNQGFVLS TSQCVPLHKC 650
    GCDFDGHYYT MGEFFWATAN CTVQCLCEEG GDVYCFNKTC GSGEVCAVED 700
    GYQGCFPKRE TVCLLSQNQV LHTFDGASYA FPSEFSYTLL KTCPERPEYL 750
    EIDINKKKPD AGPAWLRGLR ILVADQEVKI GGIGASEVKL NGQEVELPFF 800
    HPSGKLEIYR NKNSTTVESK GVVTVQYSDI GLLYIRLSTT YFNCTGGLCG 850
    FYNANASDEF CLPNGKCTDN LAVFLESWTT FEEICNGECG DLLKACNNDS 900
    ELLKFYRSRS RCGIINDPSN SSFLECHGVV NVTAYYRTCL FRLCQSGGNE 950
    SELCDSVARY ASACKNADVE VGPWRTYDFC PLECPENSHF EECITCTETC 1000
    ETLTLGPICV DSCSEGCQCD EGYALLGSQC VTRSECGCNF EGHQLATNET 1050
    FWVDLDCQIF CYCSGTDNRV HCETIPCKDD EYCMEEGGLY YCQARTDASC 1100
    IVSGYGHYLT FDGFPFDFQT SCPLILCTTG SRPSSDSFPK FVVTAKNEDR 1150
    DPSLALWVKQ VDVTVFGYSI VIHRAYKHTV LVNSERLYLP LKLGQGKINI 1200
    FSFGFHVVVE TDFGLKVVYD WKTFLSITVP RSMQNSTYGL CGRYNGNPDD 1250
    DLEMPMGLLA SSVNEFGQSW VKRDTFCQVG CGDRCPSCAK VEGFSKVQQL 1300
    CSLIPNQNAA FSKCHSKVNP TFFYKNCLFD SCIDGGAVQT ACSWLQNYAS 1350
    TCQTQGITVT GWRNYTSCTV TCPPNSHYES CVSVCQPRCA AIRLKSDCSH 1400
    YCVEGCHCDA GYVLNGKSCI LPHSCGCYSD GKYYEPKQLF WNSDCTRRCR 1450
    CFRRNVIQCD PRQCKSDEEC ALRNGVRGCF STKTSYCLAA GGGVFRTFDG 1500
    AFLRFPANCA FVLSTICQKL PDISFQLIIN FDKWSAPNLT IISPVYFYIN 1550
    EEQILINDRN TVKVNGTQVN VPFITGLATK IYSSEGFLVI DTSPDIQIYY 1600
    NGFNVIKISI SERLQNKVCG LCGNFNGDLT DDYVTLRGKP VVSSVVLAQS 1650
    WKTNGMQKRP LAPSCNELQF SQYAAMCDNV HIQKMQGDGY CLKLTDMKGF 1700
    FQPCYGLLDP LPFYESCYLD GCYSHKKFQL CGSLAAYGEA CRSFGILSTE 1750
    WIEKENCSGV VEDPCVGADC PNRTCELGNG RELCGCIEPP PYGNNSHDII 1800
    DAEVTCKAAQ MEVSISKCKL FQLGFEREGV RINDRQCTGI EGEDFISFQI 1850
    NNTKGNCGNI VQSNGTHIMY KNTLWIESAN NTGNIITRDR TINVEFSCAY 1900
    ELDIKISLDS VVKPMLSVIN LTVPTQEGSF ITKMALYKNA SYKHPYRQGE 1950
    VVLTTRDVLY VGVFVVGADA THLILTLNKC YATPTRDSND KLRYFIIEGG 2000
    CQNLKDNTIG IEENAVSLTC RFHVTVFKFI GDYDEVHLHC AVSLCDSEKY 2050
    SCKITCPHNS RIATDYTKEP KEQIISVGPI RRKRLDWCED NGGCEQICTS 2100
    RVDGPLCSCV TGTLQEDGKS CRASNSSMEL QVWTLLLIMI QISLWHFVYK 2150
    SGTTS 2155
    Length:2,155
    Mass (Da):239,527
    Last modified:November 30, 2010 - v3
    Checksum:iA7CB1CD9E7C594C3
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191Q → R.
    Corresponds to variant rs35507522 [ dbSNP | Ensembl ].
    VAR_057500
    Natural varianti197 – 1971D → N in DFNA12. 1 Publication
    VAR_066076
    Natural varianti211 – 2111F → S in DFNA12. 1 Publication
    VAR_066077
    Natural varianti284 – 2841R → H in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036423
    Natural varianti317 – 3171V → E in DFNA12. 1 Publication
    VAR_066078
    Natural varianti362 – 3621S → C in DFNA12. 1 Publication
    VAR_066079
    Natural varianti371 – 3711R → G.2 Publications
    Corresponds to variant rs612969 [ dbSNP | Ensembl ].
    VAR_018968
    Natural varianti465 – 4651N → K in DFNA12. 1 Publication
    VAR_066080
    Natural varianti562 – 5621T → M in DFNA12. 1 Publication
    VAR_066081
    Natural varianti771 – 7711I → N in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036424
    Natural varianti813 – 8131N → T in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036425
    Natural varianti815 – 8151T → M in DFNA12. 1 Publication
    VAR_066082
    Natural varianti886 – 8861N → S in DFNA12. 1 Publication
    VAR_066083
    Natural varianti932 – 9321V → A.2 Publications
    Corresponds to variant rs520805 [ dbSNP | Ensembl ].
    VAR_018969
    Natural varianti1036 – 10361C → Y in DFNA12. 1 Publication
    VAR_066084
    Natural varianti1057 – 10571C → S in DFNA12; progressive deafness with late onset. 1 Publication
    VAR_018970
    Natural varianti1098 – 10981A → V in DFNA12. 1 Publication
    VAR_066085
    Natural varianti1136 – 11361D → H in DFNA12. 1 Publication
    Corresponds to variant rs147890616 [ dbSNP | Ensembl ].
    VAR_066086
    Natural varianti1248 – 12481P → L in DFNA12. 1 Publication
    Corresponds to variant rs138768918 [ dbSNP | Ensembl ].
    VAR_066087
    Natural varianti1509 – 15091C → G in DFNA12. 1 Publication
    VAR_066088
    Natural varianti1517 – 15171C → R in DFNA12. 1 Publication
    VAR_066089
    Natural varianti1584 – 15841S → T.
    Corresponds to variant rs34963131 [ dbSNP | Ensembl ].
    VAR_057501
    Natural varianti1619 – 16191C → S in DFNA12. 1 Publication
    Corresponds to variant rs28939691 [ dbSNP | Ensembl ].
    VAR_018971
    Natural varianti1724 – 17241S → N.1 Publication
    Corresponds to variant rs526433 [ dbSNP | Ensembl ].
    VAR_018972
    Natural varianti1791 – 17911P → R in DFNA12. 1 Publication
    VAR_066090
    Natural varianti1820 – 18201L → F in DFNA12; prelingual and stable deafness. 1 Publication
    VAR_018973
    Natural varianti1824 – 18241G → D in DFNA12; prelingual and stable deafness. 1 Publication
    VAR_018974
    Natural varianti1837 – 18371C → G in DFNA12; postlingual and progressive. 2 Publications
    VAR_018975
    Natural varianti1837 – 18371C → R in DFNA12. 1 Publication
    VAR_066091
    Natural varianti1866 – 18661T → M in DFNA12. 2 Publications
    VAR_066092
    Natural varianti1867 – 18671H → R in DFNA12. 1 Publication
    VAR_066093
    Natural varianti1870 – 18701Y → C in DFNA12; prelingual and stable deafness. 1 Publication
    Corresponds to variant rs28939690 [ dbSNP | Ensembl ].
    VAR_018976
    Natural varianti1878 – 18781S → R.
    Corresponds to variant rs2155369 [ dbSNP | Ensembl ].
    VAR_059965
    Natural varianti1890 – 18901R → C in DFNA12. 2 Publications
    VAR_066094
    Natural varianti1898 – 18981C → R in DFNA12. 1 Publication
    VAR_066095
    Natural varianti1947 – 19471R → C in DFNA12. 1 Publication
    VAR_066096
    Natural varianti2009 – 20091I → T in DFNA12. 1 Publication
    VAR_066097
    Natural varianti2021 – 20211R → H in DFNA12; prelingual and stable deafness. 1 Publication
    VAR_018977
    Natural varianti2100 – 21001S → T.1 Publication
    VAR_018978

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF055136
    , AF055114, AF055115, AF055116, AF055117, AF055118, AF055119, AF055120, AF055121, AF055122, AF055123, AF055124, AF055125, AF055126, AF055127, AF055128, AF055129, AF055130, AF055131, AF055132, AF055133, AF055134, AF055135 Genomic DNA. Translation: AAC26019.1.
    AP000646 Genomic DNA. No translation available.
    AP000826 Genomic DNA. No translation available.
    CCDSiCCDS8434.1.
    RefSeqiNP_005413.2. NM_005422.2.
    UniGeneiHs.248162.

    Genome annotation databases

    EnsembliENST00000264037; ENSP00000264037; ENSG00000109927.
    ENST00000392793; ENSP00000376543; ENSG00000109927.
    GeneIDi7007.
    KEGGihsa:7007.
    UCSCiuc010rzo.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF055136
    , AF055114 , AF055115 , AF055116 , AF055117 , AF055118 , AF055119 , AF055120 , AF055121 , AF055122 , AF055123 , AF055124 , AF055125 , AF055126 , AF055127 , AF055128 , AF055129 , AF055130 , AF055131 , AF055132 , AF055133 , AF055134 , AF055135 Genomic DNA. Translation: AAC26019.1 .
    AP000646 Genomic DNA. No translation available.
    AP000826 Genomic DNA. No translation available.
    CCDSi CCDS8434.1.
    RefSeqi NP_005413.2. NM_005422.2.
    UniGenei Hs.248162.

    3D structure databases

    ProteinModelPortali O75443.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000264037.

    PTM databases

    PhosphoSitei O75443.

    Proteomic databases

    PaxDbi O75443.
    PRIDEi O75443.

    Protocols and materials databases

    DNASUi 7007.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264037 ; ENSP00000264037 ; ENSG00000109927 .
    ENST00000392793 ; ENSP00000376543 ; ENSG00000109927 .
    GeneIDi 7007.
    KEGGi hsa:7007.
    UCSCi uc010rzo.2. human.

    Organism-specific databases

    CTDi 7007.
    GeneCardsi GC11P121007.
    GeneReviewsi TECTA.
    HGNCi HGNC:11720. TECTA.
    HPAi HPA018870.
    MIMi 601543. phenotype.
    602574. gene.
    603629. phenotype.
    neXtProti NX_O75443.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG317991.
    HOGENOMi HOG000168220.
    HOVERGENi HBG079244.
    InParanoidi O75443.
    KOi K18273.
    OMAi YLTFDGY.
    OrthoDBi EOG7SJD3N.
    PhylomeDBi O75443.
    TreeFami TF300299.

    Miscellaneous databases

    GeneWikii TECTA.
    GenomeRNAii 7007.
    NextBioi 27370.
    PROi O75443.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75443.
    CleanExi HS_TECTA.
    Genevestigatori O75443.

    Family and domain databases

    InterProi IPR000742. EG-like_dom.
    IPR003886. Nidogen_extracell_dom.
    IPR002919. TIL_dom.
    IPR025615. TILa_dom.
    IPR014853. Unchr_dom_Cys-rich.
    IPR006552. VWC_out.
    IPR001007. VWF_C.
    IPR001846. VWF_type-D.
    IPR001507. ZP_dom.
    IPR017977. ZP_dom_CS.
    [Graphical view ]
    Pfami PF08742. C8. 4 hits.
    PF06119. NIDO. 1 hit.
    PF01826. TIL. 3 hits.
    PF12714. TILa. 2 hits.
    PF00094. VWD. 4 hits.
    PF00100. Zona_pellucida. 1 hit.
    [Graphical view ]
    SMARTi SM00832. C8. 4 hits.
    SM00181. EGF. 1 hit.
    SM00539. NIDO. 1 hit.
    SM00214. VWC. 1 hit.
    SM00215. VWC_out. 1 hit.
    SM00216. VWD. 4 hits.
    SM00241. ZP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57567. SSF57567. 3 hits.
    PROSITEi PS51220. NIDO. 1 hit.
    PS51233. VWFD. 4 hits.
    PS00682. ZP_1. 1 hit.
    PS51034. ZP_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNA12 PHE-1820; ASP-1824 AND CYS-1870, VARIANTS GLY-371; ALA-932 AND ASN-1724.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)."
      Zheng J., Miller K.K., Yang T., Hildebrand M.S., Shearer A.E., DeLuca A.P., Scheetz T.E., Drummond J., Scherer S.E., Legan P.K., Goodyear R.J., Richardson G.P., Cheatham M.A., Smith R.J., Dallos P.
      Proc. Natl. Acad. Sci. U.S.A. 108:4218-4223(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CEACAM16.
    4. "Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss."
      Alloisio N., Morle L., Bozon M., Godet J., Verhoeven K., Van Camp G., Plauchu H., Muller P., Collet L., Lina-Granade G.
      Eur. J. Hum. Genet. 7:255-258(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA12 SER-1619.
    5. "Alpha-tectorin involvement in hearing disabilities: one gene -- two phenotypes."
      Balciuniene J., Dahl N., Jalonen P., Verhoeven K., Van Camp G., Borg E., Pettersson U., Jazin E.E.
      Hum. Genet. 105:211-216(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA12 SER-1057, VARIANTS GLY-371; ALA-932 AND THR-2100.
    6. "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21."
      Mustapha M., Weil D., Chardenoux S., Elias S., El-Zir E., Beckmann J.S., Loiselet J., Petit C.
      Hum. Mol. Genet. 8:409-412(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DFNB21.
    7. "A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family."
      Moreno-Pelayo M.A., del Castillo I., Villamar M., Romero L., Hernandez-Calvin F.J., Herraiz C., Barbera R., Navas C., Moreno F.
      J. Med. Genet. 38:E13-E13(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-1837.
    8. "Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss."
      Iwasaki S., Harada D., Usami S., Nagura M., Takeshita T., Hoshino T.
      Arch. Otolaryngol. Head Neck Surg. 128:913-917(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA12 HIS-2021.
    9. Cited for: INVOLVEMENT IN DFNB21.
    10. "A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations."
      Pfister M., Thiele H., Van Camp G., Fransen E., Apaydin F., Aydin O., Leistenschneider P., Devoto M., Zenner H.P., Blin N., Nurnberg P., Ozkarakas H., Kupka S.
      Cell. Physiol. Biochem. 14:369-376(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA12 GLY-1509.
    11. "A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation."
      Plantinga R.F., de Brouwer A.P., Huygen P.L., Kunst H.P., Kremer H., Cremers C.W.
      J. Assoc. Res. Otolaryngol. 7:173-181(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA12 CYS-1890.
    12. Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-284; ASN-771 AND THR-813.
    13. "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree."
      Meyer N.C., Nishimura C.J., McMordie S., Smith R.J.
      Clin. Genet. 72:130-137(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA12 ARG-1837.
    14. "Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss."
      Sagong B., Park R., Kim Y.H., Lee K.Y., Baek J.I., Cho H.J., Cho I.J., Kim U.K., Lee S.H.
      Ann. Clin. Lab. Sci. 40:380-385(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DFNA12 GLU-317 AND MET-1866.
    15. Cited for: VARIANTS DFNA12 ASN-197; SER-211; CYS-362; LYS-465; MET-562; MET-815; SER-886; TYR-1036; VAL-1098; HIS-1136; LEU-1248; ARG-1517; ARG-1791; GLY-1837; MET-1866; ARG-1867; CYS-1890; ARG-1898; CYS-1947 AND THR-2009.

    Entry informationi

    Entry nameiTECTA_HUMAN
    AccessioniPrimary (citable) accession number: O75443
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 129 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3