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Q7RTU9 (STRC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Stereocilin
Gene names
Name:STRC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1775 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

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

Involvement in disease

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the stereocilin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 17751753Stereocilin
PRO_0000022426

Amino acid modifications

Glycosylation651N-linked (GlcNAc...) Potential
Glycosylation2021N-linked (GlcNAc...) Potential
Glycosylation2971N-linked (GlcNAc...) Potential
Glycosylation3661N-linked (GlcNAc...) Potential
Glycosylation4271N-linked (GlcNAc...) Potential
Glycosylation4761N-linked (GlcNAc...) Potential
Glycosylation5401N-linked (GlcNAc...) Potential
Glycosylation5651N-linked (GlcNAc...) Potential
Glycosylation6561N-linked (GlcNAc...) Potential
Glycosylation8241N-linked (GlcNAc...) Potential
Glycosylation9161N-linked (GlcNAc...) Potential
Glycosylation9641N-linked (GlcNAc...) Potential
Glycosylation11791N-linked (GlcNAc...) Potential
Glycosylation12741N-linked (GlcNAc...) Potential

Natural variations

Natural variant16401L → F.
Corresponds to variant rs2920791 [ dbSNP | Ensembl ].
VAR_051389

Sequences

Sequence LengthMass (Da)Tools
Q7RTU9 [UniParc].

Last modified December 15, 2003. Version 1.
Checksum: 1C13E9A6015F22A8

FASTA1,775192,967
        10         20         30         40         50         60 
MALSLWPLLL LLLLLLLLSF AVTLAPTGPH SLDPGLSFLK SLLSTLDQAP QGSLSRSRFF 

        70         80         90        100        110        120 
TFLANISSSF EPGRMGEGPV GEPPPLQPPA LRLHDFLVTL RGSPDWEPML GLLGDMLALL 

       130        140        150        160        170        180 
GQEQTPRDFL VHQAGVLGGL VEVLLGALVP GGPPTPTRPP CTRDGPSDCV LAADWLPSLL 

       190        200        210        220        230        240 
LLLEGTRWQA LVQVQPSVDP TNATGLDGRE AAPHFLQGLL GLLTPTGELG SKEALWGGLL 

       250        260        270        280        290        300 
RTVGAPLYAA FQEGLLRVTH SLQDEVFSIL GQPEPDTNGQ CQGGNLQQLL LWGVRHNLSW 

       310        320        330        340        350        360 
DVQALGFLSG SPPPPPALLH CLSTGVPLPR ASQPSAHISP RQRRAITVEA LCENHLGPAP 

       370        380        390        400        410        420 
PYSISNFSIH LLCQHTKPAT PQPHPSTTAI CQTAVWYAVS WAPGAQGWLQ ACHDQFPDEF 

       430        440        450        460        470        480 
LDAICSNLSF SALSGSNRRL VKRLCAGLLP PPTSCPEGLP PVPLTPDIFW GCFLENETLW 

       490        500        510        520        530        540 
AERLCGEASL QAVPPSNQAW VQHVCQGPTP DVTASPPCHI GPCGERCPDG GSFLVMVCAN 

       550        560        570        580        590        600 
DTMYEVLVPF WPWLAGQCRI SRGGNDTCFL EGLLGPLLPS LPPLGPSPLC LTPGPFLLGM 

       610        620        630        640        650        660 
LSQLPRCQSS VPALAHPTRL HYLLRLLTFL LGPGAGGAEA QGMLGRALLL SSLPDNCSFW 

       670        680        690        700        710        720 
DAFRPEGRRS VLRTIGEYLE QDEEQPTPSG FEPTVNPSSG ISKMELLACF SPVLWDLLQR 

       730        740        750        760        770        780 
EKSVWALQIL VQAYLHMPPE NLQQLVLSAE REAAQGFLTL MLQGKLQGKL QVPPSEEQAL 

       790        800        810        820        830        840 
GRLTALLLQR YPRLTSQLFI DLSPLIPFLA VSDLMRFPPS LLANDSVLAA IRDYSPGMRP 

       850        860        870        880        890        900 
EQKEALAKRL LAPELFGEVP AWPQELLWAV LPLLPHLPLE NFLQLSPHQI QALEDSWPAA 

       910        920        930        940        950        960 
GLGPGHARHV LRSLVNQSVQ DGEEQVRRLG PLACFLSPEE LQSLVPLSDP TGPVERGLLE 

       970        980        990       1000       1010       1020 
CAANGTLSPE GRVAYELLGV LRSSGGAVLS PRELRVWAPL FSQLGLRFLQ ELSEPQLRAM 

      1030       1040       1050       1060       1070       1080 
LPVLQGTSVT PAQAVLLLGR LLPRHDLSLE ELCSLHLLLP GLSPQTLQAI PRRVLVGACS 

      1090       1100       1110       1120       1130       1140 
CLAPELSRLS ACQTAALLQT FRVKDGVKNM GTTGAGPAVC IPGQPIPTTW PDCLLPLLPL 

      1150       1160       1170       1180       1190       1200 
KLLQLDSLAL LANRRRYWEL PWSEQQAQFL WKKMQVPTNL TLRNLQALGT LAGGMSCEFL 

      1210       1220       1230       1240       1250       1260 
QQINSMVDFL EVVHMIYQLP TRVRGSLRAC IWAELQRRMA MPEPEWTTVG PELNGLDSKL 

      1270       1280       1290       1300       1310       1320 
LLDLPIQLMD RLSNESIMLV VELVQRAPEQ LLALTPLHQA ALAERALQNL APKETPVSGE 

      1330       1340       1350       1360       1370       1380 
VLETLGPLVG FLGTESTRQI PLQILLSHLS QLQGFCLGET FATELGWLLL QESVLGKPEL 

      1390       1400       1410       1420       1430       1440 
WSQDEVEQAG RLVFTLSTEA ISLIPREALG PETLERLLEK QQSWEQSRVG QLCREPQLAA 

      1450       1460       1470       1480       1490       1500 
KKAALVAGVV RPAAEDLPEP VPNCADVRGT FPAAWSATQI AEMELSDFED CLTLFAGDPG 

      1510       1520       1530       1540       1550       1560 
LGPEELRAAM GKAKQLWGPP RGFRPEQILQ LGRLLIGLGD RELQELILVD WGVLSTLGQI 

      1570       1580       1590       1600       1610       1620 
DGWSTTQLRI VVSSFLRQSG RHVSHLDFVH LTALGYTLCG LRPEELQHIS SWEFSQAALF 

      1630       1640       1650       1660       1670       1680 
LGTLHLQCSE EQLEVLAHLL VLPGGFGPIS NWGPEIFTEI GTIAAGIPDL ALSALLRGQI 

      1690       1700       1710       1720       1730       1740 
QGVTPLAISV IPPPKFAVVF SPIQLSSLTS AQAVAVTPEQ MAFLSPEQRR AVAWAQHEGK 

      1750       1760       1770 
ESPEQQGRST AWGLQDWSRP SWSLVLTISF LGHLL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC011330 Genomic DNA. No translation available.
BK000138 mRNA. Translation: DAA00085.1.
CCDSCCDS10098.1.
RefSeqNP_714544.1. NM_153700.2.
UniGeneHs.657395.

3D structure databases

ProteinModelPortalQ7RTU9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000401513.

PTM databases

PhosphoSiteQ7RTU9.

Polymorphism databases

DMDM47606114.

Proteomic databases

PaxDbQ7RTU9.
PRIDEQ7RTU9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000450892; ENSP00000401513; ENSG00000242866.
GeneID161497.
KEGGhsa:161497.
UCSCuc001zsf.3. human.

Organism-specific databases

CTD161497.
GeneCardsGC15M043892.
GeneReviewsSTRC.
H-InvDBHIX0202174.
HGNCHGNC:16035. STRC.
HPAHPA015731.
MIM603720. phenotype.
606440. gene.
611102. phenotype.
neXtProtNX_Q7RTU9.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
94064. Deafness-infertility syndrome.
PharmGKBPA38082.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29484.
HOGENOMHOG000231838.
HOVERGENHBG079223.
InParanoidQ7RTU9.
OMARLSACQT.
OrthoDBEOG79GT8H.
PhylomeDBQ7RTU9.
TreeFamTF330914.

Gene expression databases

ArrayExpressQ7RTU9.
BgeeQ7RTU9.
CleanExHS_STRC.
GenevestigatorQ7RTU9.

Family and domain databases

InterProIPR026061. Stereocilin.
IPR026664. Stereocilin_related.
[Graphical view]
PANTHERPTHR23412. PTHR23412. 1 hit.
PTHR23412:SF16. PTHR23412:SF16. 1 hit.
ProtoNetSearch...

Other

GeneWikiSTRC.
GenomeRNAi161497.
NextBio88072.
PROQ7RTU9.
SOURCESearch...

Entry information

Entry nameSTRC_HUMAN
AccessionPrimary (citable) accession number: Q7RTU9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: December 15, 2003
Last modified: July 9, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM