ID   STRC_HUMAN              Reviewed;        1775 AA.
AC   Q7RTU9;
DT   24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT   15-DEC-2003, sequence version 1.
DT   24-JAN-2024, entry version 146.
DE   RecName: Full=Stereocilin;
DE   Flags: Precursor;
GN   Name=STRC;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16572171; DOI=10.1038/nature04601;
RA   Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA   Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA   FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA   Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA   Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA   DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA   Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA   Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA   Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA   O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA   Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA   Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT   "Analysis of the DNA sequence and duplication history of human chromosome
RT   15.";
RL   Nature 440:671-675(2006).
RN   [2]
RP   IDENTIFICATION, AND INVOLVEMENT IN DFNB16.
RX   PubMed=11687802; DOI=10.1038/ng726;
RA   Verpy E., Masmoudi S., Zwaenepoel I., Leibovici M., Hutchin T.P.,
RA   Del Castillo I., Nouaille S., Blanchard S., Laine S., Popot J.-L.,
RA   Moreno F., Mueller R.F., Petit C.;
RT   "Mutations in a new gene encoding a protein of the hair bundle cause non-
RT   syndromic deafness at the DFNB16 locus.";
RL   Nat. Genet. 29:345-349(2001).
RN   [3]
RP   INVOLVEMENT IN DIS.
RX   PubMed=17098888; DOI=10.1136/jmg.2006.045765;
RA   Zhang Y., Malekpour M., Al-Madani N., Kahrizi K., Zanganeh M., Mohseni M.,
RA   Mojahedi F., Daneshi A., Najmabadi H., Smith R.J.H.;
RT   "Sensorineural deafness and male infertility: a contiguous gene deletion
RT   syndrome.";
RL   J. Med. Genet. 44:233-240(2007).
CC   -!- FUNCTION: Essential to the formation of horizontal top connectors
CC       between outer hair cell stereocilia. {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Cell surface {ECO:0000250}. Cell projection,
CC       kinocilium {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}.
CC   -!- DISEASE: Deafness, autosomal recessive, 16 (DFNB16) [MIM:603720]: A
CC       form of non-syndromic sensorineural hearing loss. Sensorineural
CC       deafness results from damage to the neural receptors of the inner ear,
CC       the nerve pathways to the brain, or the area of the brain that receives
CC       sound information. {ECO:0000269|PubMed:11687802}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- DISEASE: Deafness-infertility syndrome (DIS) [MIM:611102]:
CC       Characterized by deafness and infertility and is caused by large
CC       contiguous gene deletions at 15q15.3 that removes both STRC and
CC       CATSPER2 genes. {ECO:0000269|PubMed:17098888}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the stereocilin family. {ECO:0000305}.
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DR   EMBL; AC011330; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BK000138; DAA00085.1; -; mRNA.
DR   CCDS; CCDS10098.1; -.
DR   RefSeq; NP_714544.1; NM_153700.2.
DR   RefSeq; XP_016877448.1; XM_017021959.1.
DR   AlphaFoldDB; Q7RTU9; -.
DR   BioGRID; 127793; 1.
DR   STRING; 9606.ENSP00000401513; -.
DR   TCDB; 8.A.186.1.1; the stereocilin, strc, protein (strc) family.
DR   GlyCosmos; Q7RTU9; 14 sites, No reported glycans.
DR   GlyGen; Q7RTU9; 14 sites.
DR   iPTMnet; Q7RTU9; -.
DR   PhosphoSitePlus; Q7RTU9; -.
DR   BioMuta; STRC; -.
DR   DMDM; 47606114; -.
DR   MassIVE; Q7RTU9; -.
DR   PaxDb; 9606-ENSP00000401513; -.
DR   PeptideAtlas; Q7RTU9; -.
DR   ProteomicsDB; 68910; -.
DR   Antibodypedia; 56334; 29 antibodies from 8 providers.
DR   DNASU; 161497; -.
DR   Ensembl; ENST00000450892.7; ENSP00000401513.2; ENSG00000242866.10.
DR   GeneID; 161497; -.
DR   KEGG; hsa:161497; -.
DR   MANE-Select; ENST00000450892.7; ENSP00000401513.2; NM_153700.2; NP_714544.1.
DR   UCSC; uc001zsf.4; human.
DR   AGR; HGNC:16035; -.
DR   CTD; 161497; -.
DR   DisGeNET; 161497; -.
DR   GeneCards; STRC; -.
DR   GeneReviews; STRC; -.
DR   HGNC; HGNC:16035; STRC.
DR   HPA; ENSG00000242866; Tissue enriched (brain).
DR   MalaCards; STRC; -.
DR   MIM; 603720; phenotype.
DR   MIM; 606440; gene.
DR   MIM; 611102; phenotype.
DR   neXtProt; NX_Q7RTU9; -.
DR   OpenTargets; ENSG00000242866; -.
DR   Orphanet; 94064; Deafness-infertility syndrome.
DR   Orphanet; 90636; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR   PharmGKB; PA38082; -.
DR   VEuPathDB; HostDB:ENSG00000242866; -.
DR   eggNOG; ENOG502QTHC; Eukaryota.
DR   GeneTree; ENSGT00950000182957; -.
DR   HOGENOM; CLU_001286_0_0_1; -.
DR   InParanoid; Q7RTU9; -.
DR   OMA; HLICGLY; -.
DR   OrthoDB; 5317557at2759; -.
DR   PhylomeDB; Q7RTU9; -.
DR   TreeFam; TF330914; -.
DR   PathwayCommons; Q7RTU9; -.
DR   Reactome; R-HSA-9662360; Sensory processing of sound by inner hair cells of the cochlea.
DR   Reactome; R-HSA-9662361; Sensory processing of sound by outer hair cells of the cochlea.
DR   SignaLink; Q7RTU9; -.
DR   BioGRID-ORCS; 161497; 17 hits in 1098 CRISPR screens.
DR   GeneWiki; STRC; -.
DR   GenomeRNAi; 161497; -.
DR   Pharos; Q7RTU9; Tbio.
DR   PRO; PR:Q7RTU9; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   RNAct; Q7RTU9; Protein.
DR   Bgee; ENSG00000242866; Expressed in right hemisphere of cerebellum and 114 other cell types or tissues.
DR   ExpressionAtlas; Q7RTU9; baseline and differential.
DR   GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR   GO; GO:0060091; C:kinocilium; ISS:UniProtKB.
DR   GO; GO:0032426; C:stereocilium tip; ISS:UniProtKB.
DR   GO; GO:0060088; P:auditory receptor cell stereocilium organization; ISS:UniProtKB.
DR   GO; GO:0007160; P:cell-matrix adhesion; IBA:GO_Central.
DR   GO; GO:0050910; P:detection of mechanical stimulus involved in sensory perception of sound; IEA:Ensembl.
DR   InterPro; IPR026664; Stereocilin-rel.
DR   InterPro; IPR048992; Stereocilin_LRR.
DR   PANTHER; PTHR23412; STEREOCILIN RELATED; 1.
DR   PANTHER; PTHR23412:SF14; STEREOCILIN-RELATED; 1.
DR   Pfam; PF21058; Stereocilin; 1.
DR   Genevisible; Q7RTU9; HS.
PE   2: Evidence at transcript level;
KW   Cell projection; Cilium; Deafness; Glycoprotein; Hearing;
KW   Non-syndromic deafness; Reference proteome; Signal.
FT   SIGNAL          1..22
FT                   /evidence="ECO:0000255"
FT   CHAIN           23..1775
FT                   /note="Stereocilin"
FT                   /id="PRO_0000022426"
FT   CARBOHYD        65
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        202
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        297
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        366
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        427
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        476
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        540
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        565
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        656
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        824
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        916
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        964
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        1179
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        1274
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VARIANT         1640
FT                   /note="L -> F (in dbSNP:rs2920791)"
FT                   /id="VAR_051389"
SQ   SEQUENCE   1775 AA;  192967 MW;  1C13E9A6015F22A8 CRC64;
     MALSLWPLLL LLLLLLLLSF AVTLAPTGPH SLDPGLSFLK SLLSTLDQAP QGSLSRSRFF
     TFLANISSSF EPGRMGEGPV GEPPPLQPPA LRLHDFLVTL RGSPDWEPML GLLGDMLALL
     GQEQTPRDFL VHQAGVLGGL VEVLLGALVP GGPPTPTRPP CTRDGPSDCV LAADWLPSLL
     LLLEGTRWQA LVQVQPSVDP TNATGLDGRE AAPHFLQGLL GLLTPTGELG SKEALWGGLL
     RTVGAPLYAA FQEGLLRVTH SLQDEVFSIL GQPEPDTNGQ CQGGNLQQLL LWGVRHNLSW
     DVQALGFLSG SPPPPPALLH CLSTGVPLPR ASQPSAHISP RQRRAITVEA LCENHLGPAP
     PYSISNFSIH LLCQHTKPAT PQPHPSTTAI CQTAVWYAVS WAPGAQGWLQ ACHDQFPDEF
     LDAICSNLSF SALSGSNRRL VKRLCAGLLP PPTSCPEGLP PVPLTPDIFW GCFLENETLW
     AERLCGEASL QAVPPSNQAW VQHVCQGPTP DVTASPPCHI GPCGERCPDG GSFLVMVCAN
     DTMYEVLVPF WPWLAGQCRI SRGGNDTCFL EGLLGPLLPS LPPLGPSPLC LTPGPFLLGM
     LSQLPRCQSS VPALAHPTRL HYLLRLLTFL LGPGAGGAEA QGMLGRALLL SSLPDNCSFW
     DAFRPEGRRS VLRTIGEYLE QDEEQPTPSG FEPTVNPSSG ISKMELLACF SPVLWDLLQR
     EKSVWALQIL VQAYLHMPPE NLQQLVLSAE REAAQGFLTL MLQGKLQGKL QVPPSEEQAL
     GRLTALLLQR YPRLTSQLFI DLSPLIPFLA VSDLMRFPPS LLANDSVLAA IRDYSPGMRP
     EQKEALAKRL LAPELFGEVP AWPQELLWAV LPLLPHLPLE NFLQLSPHQI QALEDSWPAA
     GLGPGHARHV LRSLVNQSVQ DGEEQVRRLG PLACFLSPEE LQSLVPLSDP TGPVERGLLE
     CAANGTLSPE GRVAYELLGV LRSSGGAVLS PRELRVWAPL FSQLGLRFLQ ELSEPQLRAM
     LPVLQGTSVT PAQAVLLLGR LLPRHDLSLE ELCSLHLLLP GLSPQTLQAI PRRVLVGACS
     CLAPELSRLS ACQTAALLQT FRVKDGVKNM GTTGAGPAVC IPGQPIPTTW PDCLLPLLPL
     KLLQLDSLAL LANRRRYWEL PWSEQQAQFL WKKMQVPTNL TLRNLQALGT LAGGMSCEFL
     QQINSMVDFL EVVHMIYQLP TRVRGSLRAC IWAELQRRMA MPEPEWTTVG PELNGLDSKL
     LLDLPIQLMD RLSNESIMLV VELVQRAPEQ LLALTPLHQA ALAERALQNL APKETPVSGE
     VLETLGPLVG FLGTESTRQI PLQILLSHLS QLQGFCLGET FATELGWLLL QESVLGKPEL
     WSQDEVEQAG RLVFTLSTEA ISLIPREALG PETLERLLEK QQSWEQSRVG QLCREPQLAA
     KKAALVAGVV RPAAEDLPEP VPNCADVRGT FPAAWSATQI AEMELSDFED CLTLFAGDPG
     LGPEELRAAM GKAKQLWGPP RGFRPEQILQ LGRLLIGLGD RELQELILVD WGVLSTLGQI
     DGWSTTQLRI VVSSFLRQSG RHVSHLDFVH LTALGYTLCG LRPEELQHIS SWEFSQAALF
     LGTLHLQCSE EQLEVLAHLL VLPGGFGPIS NWGPEIFTEI GTIAAGIPDL ALSALLRGQI
     QGVTPLAISV IPPPKFAVVF SPIQLSSLTS AQAVAVTPEQ MAFLSPEQRR AVAWAQHEGK
     ESPEQQGRST AWGLQDWSRP SWSLVLTISF LGHLL
//