Q7RTU9 (STRC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Stereocilin

Gene names

Name:

STRC

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1775 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 projection › kinocilium By similarity. Cell projection › stereocilium 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.

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell projection Cilium
Coding sequence diversity	Polymorphism
Disease	Deafness Non-syndromic deafness
Domain	Signal
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	auditory receptor cell stereocilium organization Inferred from sequence or structural similarity. Source: UniProtKB detection of mechanical stimulus involved in sensory perception of sound Inferred from electronic annotation. Source: Compara
Cellular_component	cell surface Inferred from electronic annotation. Source: UniProtKB-SubCell kinocilium Inferred from sequence or structural similarity. Source: UniProtKB stereocilium Inferred from electronic annotation. Source: UniProtKB-SubCell stereocilium bundle tip Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	Potential
	Chain	23 – 1775	1753	Stereocilin		PRO_0000022426
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
	Glycosylation	202	1	N-linked (GlcNAc...) Potential
	Glycosylation	297	1	N-linked (GlcNAc...) Potential
	Glycosylation	366	1	N-linked (GlcNAc...) Potential
	Glycosylation	427	1	N-linked (GlcNAc...) Potential
	Glycosylation	476	1	N-linked (GlcNAc...) Potential
	Glycosylation	540	1	N-linked (GlcNAc...) Potential
	Glycosylation	565	1	N-linked (GlcNAc...) Potential
	Glycosylation	656	1	N-linked (GlcNAc...) Potential
	Glycosylation	824	1	N-linked (GlcNAc...) Potential
	Glycosylation	916	1	N-linked (GlcNAc...) Potential
	Glycosylation	964	1	N-linked (GlcNAc...) Potential
	Glycosylation	1179	1	N-linked (GlcNAc...) Potential
	Glycosylation	1274	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	1640	1	L → F. Corresponds to variant rs2920791 [ dbSNP | Ensembl ].		VAR_051389

Sequences

	Sequence		Length	Mass (Da)
	Q7RTU9 [UniParc]. Last modified December 15, 2003. Version 1. Checksum: 1C13E9A6015F22A8	FASTA	1,775	192,967
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00170605.
RefSeq	NP_714544.1. NM_153700.2.
UniGene	Hs.657395.
3D structure databases
ProteinModelPortal	Q7RTU9.
SMR	Q7RTU9. Positions 1585-1611.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000401513.
PTM databases
PhosphoSite	Q7RTU9.
Polymorphism databases
DMDM	47606114.
Proteomic databases
PaxDb	Q7RTU9.
PRIDE	Q7RTU9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000450892; ENSP00000401513; ENSG00000242866.
GeneID	161497.
KEGG	hsa:161497.
UCSC	uc001zsf.3. human.
Organism-specific databases
CTD	161497.
GeneCards	GC15M043892.
H-InvDB	HIX0202174.
HGNC	HGNC:16035. STRC.
HPA	HPA015731.
MIM	603720. phenotype. 606440. gene. 611102. phenotype.
neXtProt	NX_Q7RTU9.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. 94064. Deafness-infertility syndrome.
PharmGKB	PA38082.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG29484.
HOGENOM	HOG000231838.
HOVERGEN	HBG079223.
InParanoid	Q7RTU9.
OMA	QGRSTAW.
OrthoDB	EOG42V8FC.
PhylomeDB	Q7RTU9.
Gene expression databases
ArrayExpress	Q7RTU9.
Bgee	Q7RTU9.
CleanEx	HS_STRC.
Genevestigator	Q7RTU9.
GermOnline	ENSG00000166763. Homo sapiens.
Family and domain databases
InterPro	IPR026061. Stereocilin. IPR026664. Stereocilin_related. [Graphical view]
PANTHER	PTHR23412. PTHR23412. 1 hit. PTHR23412:SF1. PTHR23412:SF1. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	161497.
NextBio	88072.
SOURCE	Search...

Entry information

Entry name

STRC_HUMAN

Accession

Primary (citable) accession number: Q7RTU9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 24, 2004
Last sequence update:	December 15, 2003
Last modified:	May 1, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.