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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.By similarity

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 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-KW
  4. proteinaceous extracellular matrix Source: UniProtKB-KW
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.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 non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic 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.
GeneTreeiENSGT00760000118896.
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

« Hide

        10         20         30         40         50
MNYSSFLRIW VSFIFALVQH QAQPRELMYP FWQNDTKTPK VDDGSSSEIK
60 70 80 90 100
LAIPVFFFGV PYRTVYVNNN GVVSFNVLVS QFTPESFPLT DGRAFVAPFW
110 120 130 140 150
ADVHNGIRGE IYYRETMEPA ILKRATKDIR KYFKDMATFS ATWVFIVTWE
160 170 180 190 200
EVTFYGGSST TPVNTFQAVL VSDGSYTFTL FNYYEINWTT GTASGGDPLT
210 220 230 240 250
GLGGVMAQAG FNGGNLTNFF SLPGSRTPEI VNIQETTNVN VPGRWAFKVD
260 270 280 290 300
GKEIDPANGC TSRGQFLRRG EVFWDDLNCT VKCRCLDFNN EIYCQEASCS
310 320 330 340 350
PYEVCEPKGK FFYCSAVETS TCVVFGEPHY HTFDGFLFHF QGSCAYLLAR
360 370 380 390 400
QCLQTSSLPF FSVEAKNEHR RGSAVSWVKE LSVEVNGYKI LIPKGSYGRV
410 420 430 440 450
KVNDLVTSLP VTLDLGTVKI YQSGISTAVE TDFGLLVTFD GQHYASISVP
460 470 480 490 500
GSYINSTCGL CGNYNKNPLD DFLRPDGRPA MSVLDLGESW RVYHADWKCD
510 520 530 540 550
SGCVDNCTQC DAATEALYFG SDYCGFLNKT DGPLWECGTV VDPTAFVHSC
560 570 580 590 600
VYDLCSVRDN GTLLCQAIQA YALVCQALGI PIGDWRTQTG CVSTVQCPSF
610 620 630 640 650
SHYSVCTSSC PDTCSDLTAS RNCATPCTEG CECNQGFVLS TSQCVPLHKC
660 670 680 690 700
GCDFDGHYYT MGEFFWATAN CTVQCLCEEG GDVYCFNKTC GSGEVCAVED
710 720 730 740 750
GYQGCFPKRE TVCLLSQNQV LHTFDGASYA FPSEFSYTLL KTCPERPEYL
760 770 780 790 800
EIDINKKKPD AGPAWLRGLR ILVADQEVKI GGIGASEVKL NGQEVELPFF
810 820 830 840 850
HPSGKLEIYR NKNSTTVESK GVVTVQYSDI GLLYIRLSTT YFNCTGGLCG
860 870 880 890 900
FYNANASDEF CLPNGKCTDN LAVFLESWTT FEEICNGECG DLLKACNNDS
910 920 930 940 950
ELLKFYRSRS RCGIINDPSN SSFLECHGVV NVTAYYRTCL FRLCQSGGNE
960 970 980 990 1000
SELCDSVARY ASACKNADVE VGPWRTYDFC PLECPENSHF EECITCTETC
1010 1020 1030 1040 1050
ETLTLGPICV DSCSEGCQCD EGYALLGSQC VTRSECGCNF EGHQLATNET
1060 1070 1080 1090 1100
FWVDLDCQIF CYCSGTDNRV HCETIPCKDD EYCMEEGGLY YCQARTDASC
1110 1120 1130 1140 1150
IVSGYGHYLT FDGFPFDFQT SCPLILCTTG SRPSSDSFPK FVVTAKNEDR
1160 1170 1180 1190 1200
DPSLALWVKQ VDVTVFGYSI VIHRAYKHTV LVNSERLYLP LKLGQGKINI
1210 1220 1230 1240 1250
FSFGFHVVVE TDFGLKVVYD WKTFLSITVP RSMQNSTYGL CGRYNGNPDD
1260 1270 1280 1290 1300
DLEMPMGLLA SSVNEFGQSW VKRDTFCQVG CGDRCPSCAK VEGFSKVQQL
1310 1320 1330 1340 1350
CSLIPNQNAA FSKCHSKVNP TFFYKNCLFD SCIDGGAVQT ACSWLQNYAS
1360 1370 1380 1390 1400
TCQTQGITVT GWRNYTSCTV TCPPNSHYES CVSVCQPRCA AIRLKSDCSH
1410 1420 1430 1440 1450
YCVEGCHCDA GYVLNGKSCI LPHSCGCYSD GKYYEPKQLF WNSDCTRRCR
1460 1470 1480 1490 1500
CFRRNVIQCD PRQCKSDEEC ALRNGVRGCF STKTSYCLAA GGGVFRTFDG
1510 1520 1530 1540 1550
AFLRFPANCA FVLSTICQKL PDISFQLIIN FDKWSAPNLT IISPVYFYIN
1560 1570 1580 1590 1600
EEQILINDRN TVKVNGTQVN VPFITGLATK IYSSEGFLVI DTSPDIQIYY
1610 1620 1630 1640 1650
NGFNVIKISI SERLQNKVCG LCGNFNGDLT DDYVTLRGKP VVSSVVLAQS
1660 1670 1680 1690 1700
WKTNGMQKRP LAPSCNELQF SQYAAMCDNV HIQKMQGDGY CLKLTDMKGF
1710 1720 1730 1740 1750
FQPCYGLLDP LPFYESCYLD GCYSHKKFQL CGSLAAYGEA CRSFGILSTE
1760 1770 1780 1790 1800
WIEKENCSGV VEDPCVGADC PNRTCELGNG RELCGCIEPP PYGNNSHDII
1810 1820 1830 1840 1850
DAEVTCKAAQ MEVSISKCKL FQLGFEREGV RINDRQCTGI EGEDFISFQI
1860 1870 1880 1890 1900
NNTKGNCGNI VQSNGTHIMY KNTLWIESAN NTGNIITRDR TINVEFSCAY
1910 1920 1930 1940 1950
ELDIKISLDS VVKPMLSVIN LTVPTQEGSF ITKMALYKNA SYKHPYRQGE
1960 1970 1980 1990 2000
VVLTTRDVLY VGVFVVGADA THLILTLNKC YATPTRDSND KLRYFIIEGG
2010 2020 2030 2040 2050
CQNLKDNTIG IEENAVSLTC RFHVTVFKFI GDYDEVHLHC AVSLCDSEKY
2060 2070 2080 2090 2100
SCKITCPHNS RIATDYTKEP KEQIISVGPI RRKRLDWCED NGGCEQICTS
2110 2120 2130 2140 2150
RVDGPLCSCV TGTLQEDGKS CRASNSSMEL QVWTLLLIMI QISLWHFVYK

SGTTS
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG317991.
GeneTreei ENSGT00760000118896.
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: October 29, 2014
This is version 130 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