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O75443

- TECTA_HUMAN

UniProt

O75443 - TECTA_HUMAN

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Protein
Alpha-tectorin
Gene
TECTA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

GO - Biological processi

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

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; Lipid-anchorGPI-anchor; Extracellular side Inferred. 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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

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 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 20912069Alpha-tectorin
PRO_0000041735Add
BLAST
Propeptidei2092 – 215564Removed in mature form Reviewed prediction
PRO_0000041736Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini98 – 252155NIDO
Add
BLAST
Domaini260 – 31455VWFC
Add
BLAST
Domaini321 – 540220VWFD 1
Add
BLAST
Domaini597 – 65054TIL 1
Add
BLAST
Domaini712 – 929218VWFD 2
Add
BLAST
Domaini984 – 103653TIL 2
Add
BLAST
Domaini1099 – 1317219VWFD 3
Add
BLAST
Domaini1372 – 142554TIL 3
Add
BLAST
Domaini1486 – 1694209VWFD 4
Add
BLAST
Domaini1805 – 2059255ZP
Add
BLAST

Domaini

Zona pellucida domain may enable to form filaments.

Sequence similaritiesi

Contains 1 NIDO domain.
Contains 1 VWFC domain.
Contains 4 VWFD domains.
Contains 1 ZP domain.

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 128 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

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