Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q7RTU9

- STRC_HUMAN

UniProt

Q7RTU9 - STRC_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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. kinocilium Source: UniProtKB
  2. 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.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 non-syndromic 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

BgeeiQ7RTU9.
CleanExiHS_STRC.
ExpressionAtlasiQ7RTU9. baseline.
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.
GeneTreeiENSGT00530000063809.
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

        10         20         30         40         50
MALSLWPLLL LLLLLLLLSF AVTLAPTGPH SLDPGLSFLK SLLSTLDQAP
60 70 80 90 100
QGSLSRSRFF TFLANISSSF EPGRMGEGPV GEPPPLQPPA LRLHDFLVTL
110 120 130 140 150
RGSPDWEPML GLLGDMLALL GQEQTPRDFL VHQAGVLGGL VEVLLGALVP
160 170 180 190 200
GGPPTPTRPP CTRDGPSDCV LAADWLPSLL LLLEGTRWQA LVQVQPSVDP
210 220 230 240 250
TNATGLDGRE AAPHFLQGLL GLLTPTGELG SKEALWGGLL RTVGAPLYAA
260 270 280 290 300
FQEGLLRVTH SLQDEVFSIL GQPEPDTNGQ CQGGNLQQLL LWGVRHNLSW
310 320 330 340 350
DVQALGFLSG SPPPPPALLH CLSTGVPLPR ASQPSAHISP RQRRAITVEA
360 370 380 390 400
LCENHLGPAP PYSISNFSIH LLCQHTKPAT PQPHPSTTAI CQTAVWYAVS
410 420 430 440 450
WAPGAQGWLQ ACHDQFPDEF LDAICSNLSF SALSGSNRRL VKRLCAGLLP
460 470 480 490 500
PPTSCPEGLP PVPLTPDIFW GCFLENETLW AERLCGEASL QAVPPSNQAW
510 520 530 540 550
VQHVCQGPTP DVTASPPCHI GPCGERCPDG GSFLVMVCAN DTMYEVLVPF
560 570 580 590 600
WPWLAGQCRI SRGGNDTCFL EGLLGPLLPS LPPLGPSPLC LTPGPFLLGM
610 620 630 640 650
LSQLPRCQSS VPALAHPTRL HYLLRLLTFL LGPGAGGAEA QGMLGRALLL
660 670 680 690 700
SSLPDNCSFW DAFRPEGRRS VLRTIGEYLE QDEEQPTPSG FEPTVNPSSG
710 720 730 740 750
ISKMELLACF SPVLWDLLQR EKSVWALQIL VQAYLHMPPE NLQQLVLSAE
760 770 780 790 800
REAAQGFLTL MLQGKLQGKL QVPPSEEQAL GRLTALLLQR YPRLTSQLFI
810 820 830 840 850
DLSPLIPFLA VSDLMRFPPS LLANDSVLAA IRDYSPGMRP EQKEALAKRL
860 870 880 890 900
LAPELFGEVP AWPQELLWAV LPLLPHLPLE NFLQLSPHQI QALEDSWPAA
910 920 930 940 950
GLGPGHARHV LRSLVNQSVQ DGEEQVRRLG PLACFLSPEE LQSLVPLSDP
960 970 980 990 1000
TGPVERGLLE CAANGTLSPE GRVAYELLGV LRSSGGAVLS PRELRVWAPL
1010 1020 1030 1040 1050
FSQLGLRFLQ ELSEPQLRAM LPVLQGTSVT PAQAVLLLGR LLPRHDLSLE
1060 1070 1080 1090 1100
ELCSLHLLLP GLSPQTLQAI PRRVLVGACS CLAPELSRLS ACQTAALLQT
1110 1120 1130 1140 1150
FRVKDGVKNM GTTGAGPAVC IPGQPIPTTW PDCLLPLLPL KLLQLDSLAL
1160 1170 1180 1190 1200
LANRRRYWEL PWSEQQAQFL WKKMQVPTNL TLRNLQALGT LAGGMSCEFL
1210 1220 1230 1240 1250
QQINSMVDFL EVVHMIYQLP TRVRGSLRAC IWAELQRRMA MPEPEWTTVG
1260 1270 1280 1290 1300
PELNGLDSKL LLDLPIQLMD RLSNESIMLV VELVQRAPEQ LLALTPLHQA
1310 1320 1330 1340 1350
ALAERALQNL APKETPVSGE VLETLGPLVG FLGTESTRQI PLQILLSHLS
1360 1370 1380 1390 1400
QLQGFCLGET FATELGWLLL QESVLGKPEL WSQDEVEQAG RLVFTLSTEA
1410 1420 1430 1440 1450
ISLIPREALG PETLERLLEK QQSWEQSRVG QLCREPQLAA KKAALVAGVV
1460 1470 1480 1490 1500
RPAAEDLPEP VPNCADVRGT FPAAWSATQI AEMELSDFED CLTLFAGDPG
1510 1520 1530 1540 1550
LGPEELRAAM GKAKQLWGPP RGFRPEQILQ LGRLLIGLGD RELQELILVD
1560 1570 1580 1590 1600
WGVLSTLGQI DGWSTTQLRI VVSSFLRQSG RHVSHLDFVH LTALGYTLCG
1610 1620 1630 1640 1650
LRPEELQHIS SWEFSQAALF LGTLHLQCSE EQLEVLAHLL VLPGGFGPIS
1660 1670 1680 1690 1700
NWGPEIFTEI GTIAAGIPDL ALSALLRGQI QGVTPLAISV IPPPKFAVVF
1710 1720 1730 1740 1750
SPIQLSSLTS AQAVAVTPEQ MAFLSPEQRR AVAWAQHEGK ESPEQQGRST
1760 1770
AWGLQDWSRP SWSLVLTISF LGHLL
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 non-syndromic sensorineural deafness type DFNB.
94064. Deafness-infertility syndrome.
PharmGKBi PA38082.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG29484.
GeneTreei ENSGT00530000063809.
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

Bgeei Q7RTU9.
CleanExi HS_STRC.
ExpressionAtlasi Q7RTU9. baseline.
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: October 29, 2014
This is version 94 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