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Q7RTU9

- STRC_HUMAN

UniProt

Q7RTU9 - STRC_HUMAN

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Protein

Stereocilin

Gene
STRC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.1 Publication

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 – 2222 Reviewed predictionAdd
BLAST
Chaini23 – 17751753StereocilinPRO_0000022426Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the stereocilin family.

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

« Hide

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 92 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

Similar proteinsi