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Q7RTU9

- STRC_HUMAN

UniProt

Q7RTU9 - STRC_HUMAN

Protein

Stereocilin

Gene

STRC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (15 Dec 2003)
      Previous versions | rss
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    Functioni

    Essential to the formation of horizontal top connectors between outer hair cell stereocilia.By similarity

    GO - Biological processi

    1. auditory receptor cell stereocilium organization Source: UniProtKB
    2. detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Stereocilin
    Gene namesi
    Name:STRC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:16035. STRC.

    Subcellular locationi

    Cell surface By similarity. Cell projectionkinocilium By similarity. Cell projectionstereocilium By similarity

    GO - Cellular componenti

    1. cell surface Source: UniProtKB-SubCell
    2. kinocilium Source: UniProtKB
    3. stereocilium Source: UniProtKB-SubCell
    4. stereocilium bundle tip Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cilium

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 16 (DFNB16) [MIM:603720]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Deafness-infertility syndrome (DIS) [MIM:611102]: Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Non-syndromic deafness

    Organism-specific databases

    MIMi603720. phenotype.
    611102. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    94064. Deafness-infertility syndrome.
    PharmGKBiPA38082.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 17751753StereocilinPRO_0000022426Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi65 – 651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi202 – 2021N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi366 – 3661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi427 – 4271N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi476 – 4761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi540 – 5401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi565 – 5651N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi656 – 6561N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi824 – 8241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi916 – 9161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi964 – 9641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1179 – 11791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1274 – 12741N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ7RTU9.
    PRIDEiQ7RTU9.

    PTM databases

    PhosphoSiteiQ7RTU9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7RTU9.
    BgeeiQ7RTU9.
    CleanExiHS_STRC.
    GenevestigatoriQ7RTU9.

    Organism-specific databases

    HPAiHPA015731.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000401513.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7RTU9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the stereocilin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG29484.
    HOGENOMiHOG000231838.
    HOVERGENiHBG079223.
    InParanoidiQ7RTU9.
    OMAiRLSACQT.
    OrthoDBiEOG79GT8H.
    PhylomeDBiQ7RTU9.
    TreeFamiTF330914.

    Family and domain databases

    InterProiIPR026061. Stereocilin.
    IPR026664. Stereocilin_related.
    [Graphical view]
    PANTHERiPTHR23412. PTHR23412. 1 hit.
    PTHR23412:SF16. PTHR23412:SF16. 1 hit.

    Sequencei

    Sequence statusi: Complete.

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

    Q7RTU9-1 [UniParc]FASTAAdd to Basket

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    MALSLWPLLL LLLLLLLLSF AVTLAPTGPH SLDPGLSFLK SLLSTLDQAP     50
    QGSLSRSRFF TFLANISSSF EPGRMGEGPV GEPPPLQPPA LRLHDFLVTL 100
    RGSPDWEPML GLLGDMLALL GQEQTPRDFL VHQAGVLGGL VEVLLGALVP 150
    GGPPTPTRPP CTRDGPSDCV LAADWLPSLL LLLEGTRWQA LVQVQPSVDP 200
    TNATGLDGRE AAPHFLQGLL GLLTPTGELG SKEALWGGLL RTVGAPLYAA 250
    FQEGLLRVTH SLQDEVFSIL GQPEPDTNGQ CQGGNLQQLL LWGVRHNLSW 300
    DVQALGFLSG SPPPPPALLH CLSTGVPLPR ASQPSAHISP RQRRAITVEA 350
    LCENHLGPAP PYSISNFSIH LLCQHTKPAT PQPHPSTTAI CQTAVWYAVS 400
    WAPGAQGWLQ ACHDQFPDEF LDAICSNLSF SALSGSNRRL VKRLCAGLLP 450
    PPTSCPEGLP PVPLTPDIFW GCFLENETLW AERLCGEASL QAVPPSNQAW 500
    VQHVCQGPTP DVTASPPCHI GPCGERCPDG GSFLVMVCAN DTMYEVLVPF 550
    WPWLAGQCRI SRGGNDTCFL EGLLGPLLPS LPPLGPSPLC LTPGPFLLGM 600
    LSQLPRCQSS VPALAHPTRL HYLLRLLTFL LGPGAGGAEA QGMLGRALLL 650
    SSLPDNCSFW DAFRPEGRRS VLRTIGEYLE QDEEQPTPSG FEPTVNPSSG 700
    ISKMELLACF SPVLWDLLQR EKSVWALQIL VQAYLHMPPE NLQQLVLSAE 750
    REAAQGFLTL MLQGKLQGKL QVPPSEEQAL GRLTALLLQR YPRLTSQLFI 800
    DLSPLIPFLA VSDLMRFPPS LLANDSVLAA IRDYSPGMRP EQKEALAKRL 850
    LAPELFGEVP AWPQELLWAV LPLLPHLPLE NFLQLSPHQI QALEDSWPAA 900
    GLGPGHARHV LRSLVNQSVQ DGEEQVRRLG PLACFLSPEE LQSLVPLSDP 950
    TGPVERGLLE CAANGTLSPE GRVAYELLGV LRSSGGAVLS PRELRVWAPL 1000
    FSQLGLRFLQ ELSEPQLRAM LPVLQGTSVT PAQAVLLLGR LLPRHDLSLE 1050
    ELCSLHLLLP GLSPQTLQAI PRRVLVGACS CLAPELSRLS ACQTAALLQT 1100
    FRVKDGVKNM GTTGAGPAVC IPGQPIPTTW PDCLLPLLPL KLLQLDSLAL 1150
    LANRRRYWEL PWSEQQAQFL WKKMQVPTNL TLRNLQALGT LAGGMSCEFL 1200
    QQINSMVDFL EVVHMIYQLP TRVRGSLRAC IWAELQRRMA MPEPEWTTVG 1250
    PELNGLDSKL LLDLPIQLMD RLSNESIMLV VELVQRAPEQ LLALTPLHQA 1300
    ALAERALQNL APKETPVSGE VLETLGPLVG FLGTESTRQI PLQILLSHLS 1350
    QLQGFCLGET FATELGWLLL QESVLGKPEL WSQDEVEQAG RLVFTLSTEA 1400
    ISLIPREALG PETLERLLEK QQSWEQSRVG QLCREPQLAA KKAALVAGVV 1450
    RPAAEDLPEP VPNCADVRGT FPAAWSATQI AEMELSDFED CLTLFAGDPG 1500
    LGPEELRAAM GKAKQLWGPP RGFRPEQILQ LGRLLIGLGD RELQELILVD 1550
    WGVLSTLGQI DGWSTTQLRI VVSSFLRQSG RHVSHLDFVH LTALGYTLCG 1600
    LRPEELQHIS SWEFSQAALF LGTLHLQCSE EQLEVLAHLL VLPGGFGPIS 1650
    NWGPEIFTEI GTIAAGIPDL ALSALLRGQI QGVTPLAISV IPPPKFAVVF 1700
    SPIQLSSLTS AQAVAVTPEQ MAFLSPEQRR AVAWAQHEGK ESPEQQGRST 1750
    AWGLQDWSRP SWSLVLTISF LGHLL 1775
    Length:1,775
    Mass (Da):192,967
    Last modified:December 15, 2003 - v1
    Checksum:i1C13E9A6015F22A8
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1640 – 16401L → F.
    Corresponds to variant rs2920791 [ dbSNP | Ensembl ].
    VAR_051389

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC011330 Genomic DNA. No translation available.
    BK000138 mRNA. Translation: DAA00085.1.
    CCDSiCCDS10098.1.
    RefSeqiNP_714544.1. NM_153700.2.
    UniGeneiHs.657395.

    Genome annotation databases

    EnsembliENST00000450892; ENSP00000401513; ENSG00000242866.
    GeneIDi161497.
    KEGGihsa:161497.
    UCSCiuc001zsf.3. human.

    Polymorphism databases

    DMDMi47606114.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC011330 Genomic DNA. No translation available.
    BK000138 mRNA. Translation: DAA00085.1 .
    CCDSi CCDS10098.1.
    RefSeqi NP_714544.1. NM_153700.2.
    UniGenei Hs.657395.

    3D structure databases

    ProteinModelPortali Q7RTU9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000401513.

    PTM databases

    PhosphoSitei Q7RTU9.

    Polymorphism databases

    DMDMi 47606114.

    Proteomic databases

    PaxDbi Q7RTU9.
    PRIDEi Q7RTU9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000450892 ; ENSP00000401513 ; ENSG00000242866 .
    GeneIDi 161497.
    KEGGi hsa:161497.
    UCSCi uc001zsf.3. human.

    Organism-specific databases

    CTDi 161497.
    GeneCardsi GC15M043892.
    GeneReviewsi STRC.
    H-InvDB HIX0202174.
    HGNCi HGNC:16035. STRC.
    HPAi HPA015731.
    MIMi 603720. phenotype.
    606440. gene.
    611102. phenotype.
    neXtProti NX_Q7RTU9.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    94064. Deafness-infertility syndrome.
    PharmGKBi PA38082.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29484.
    HOGENOMi HOG000231838.
    HOVERGENi HBG079223.
    InParanoidi Q7RTU9.
    OMAi RLSACQT.
    OrthoDBi EOG79GT8H.
    PhylomeDBi Q7RTU9.
    TreeFami TF330914.

    Miscellaneous databases

    GeneWikii STRC.
    GenomeRNAii 161497.
    NextBioi 88072.
    PROi Q7RTU9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7RTU9.
    Bgeei Q7RTU9.
    CleanExi HS_STRC.
    Genevestigatori Q7RTU9.

    Family and domain databases

    InterProi IPR026061. Stereocilin.
    IPR026664. Stereocilin_related.
    [Graphical view ]
    PANTHERi PTHR23412. PTHR23412. 1 hit.
    PTHR23412:SF16. PTHR23412:SF16. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus."
      Verpy E., Masmoudi S., Zwaenepoel I., Leibovici M., Hutchin T.P., Del Castillo I., Nouaille S., Blanchard S., Laine S., Popot J.-L., Moreno F., Mueller R.F., Petit C.
      Nat. Genet. 29:345-349(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, INVOLVEMENT IN DFNB16.
    3. "Sensorineural deafness and male infertility: a contiguous gene deletion syndrome."
      Zhang Y., Malekpour M., Al-Madani N., Kahrizi K., Zanganeh M., Mohseni M., Mojahedi F., Daneshi A., Najmabadi H., Smith R.J.H.
      J. Med. Genet. 44:233-240(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DIS.

    Entry informationi

    Entry nameiSTRC_HUMAN
    AccessioniPrimary (citable) accession number: Q7RTU9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 24, 2004
    Last sequence update: December 15, 2003
    Last modified: October 1, 2014
    This is version 93 of the entry and version 1 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 15
      Human chromosome 15: 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