STRC_HUMAN
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 03-AUG-2022, entry version 140.
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 GlyGen; Q7RTU9; 14 sites.
DR iPTMnet; Q7RTU9; -.
DR PhosphoSitePlus; Q7RTU9; -.
DR BioMuta; STRC; -.
DR DMDM; 47606114; -.
DR MassIVE; Q7RTU9; -.
DR PaxDb; Q7RTU9; -.
DR PeptideAtlas; Q7RTU9; -.
DR PRIDE; Q7RTU9; -.
DR ProteomicsDB; 68910; -.
DR Antibodypedia; 56334; 18 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 CTD; 161497; -.
DR DisGeNET; 161497; -.
DR GeneCards; STRC; -.
DR GeneReviews; STRC; -.
DR HGNC; HGNC:16035; STRC.
DR HPA; ENSG00000242866; Group enriched (brain, pituitary gland, retina, testis).
DR MalaCards; STRC; -.
DR MIM; 603720; phenotype.
DR MIM; 606440; gene.
DR MIM; 611102; phenotype.
DR neXtProt; NX_Q7RTU9; -.
DR OpenTargets; ENSG00000242866; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR Orphanet; 94064; Deafness-infertility syndrome.
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; 86428at2759; -.
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 1022 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 112 other tissues.
DR ExpressionAtlas; Q7RTU9; baseline and differential.
DR Genevisible; Q7RTU9; HS.
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; IPR026061; Stereocilin.
DR InterPro; IPR026664; Stereocilin-rel.
DR PANTHER; PTHR23412; PTHR23412; 1.
DR PANTHER; PTHR23412:SF14; PTHR23412:SF14; 1.
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
