STRC: Difference between revisions

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{{Infobox_gene}}
 
'''Stereocilin''' is a [[protein]] that in humans is encoded by the ''STRC'' [[gene]].<ref name="pmid11687802">{{cite journal | vauthors = Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C | title = Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus | journal = Nat Genet | volume = 29 | issue = 3 | pages = 345–9 |date=Nov 2001 | pmid = 11687802 | pmc =  | doi = 10.1038/ng726 }}</ref><ref name="pmid9429146">{{cite journal | vauthors = Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF | title = A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22 | journal = J Med Genet | volume = 34 | issue = 12 | pages = 1015–7 |date=Feb 1998 | pmid = 9429146 | pmc = 1051155 | doi =10.1136/jmg.34.12.1015 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: STRC stereocilin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161497| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Stereocilin
| HGNCid = 16035
| Symbol = STRC
| AltSymbols =; DFNB16; MGC156147
| OMIM = 606440
| ECnumber =
  | Homologene = 15401
| MGIid = 2153816
| Function =
| Component =
| Process = {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 161497
    | Hs_Ensembl =
    | Hs_RefseqProtein = NP_714544
    | Hs_RefseqmRNA = NM_153700
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr =
    | Hs_GenLoc_start =
    | Hs_GenLoc_end =
    | Hs_Uniprot =
    | Mm_EntrezGene = 140476
    | Mm_Ensembl = ENSMUSG00000033498
    | Mm_RefseqmRNA = NM_080459
    | Mm_RefseqProtein = NP_536707
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 121055169
    | Mm_GenLoc_end = 121072381
    | Mm_Uniprot = Q3UMD0
  }}
}}
'''Stereocilin''', also known as '''STRC''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: STRC stereocilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161497| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness.<ref name="entrez">{{cite web | title = Entrez Gene: STRC stereocilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161497| accessdate = }}</ref>
| summary_text = This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff [[microvilli]] called [[stereocilia]] and is involved with [[mechanoreception]] of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a [[pseudogene]]. Mutations in this gene cause autosomal recessive [[non-syndromic deafness]].<ref name="entrez"/>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Bitner-Glindzicz M |title=Hereditary deafness and phenotyping in humans. |journal=Br. Med. Bull. |volume=63 |issue=  |pages= 73–94 |year= 2002 |pmid= 12324385 |doi=  }}
*{{cite journal  | author=Bitner-Glindzicz M |title=Hereditary deafness and phenotyping in humans. |journal=Br. Med. Bull. |volume=63 |issue=  |pages= 73–94 |year= 2002 |pmid= 12324385 |doi=10.1093/bmb/63.1.73 }}
*{{cite journal | author=Zody MC, Garber M, Sharpe T, ''et al.'' |title=Analysis of the DNA sequence and duplication history of human chromosome 15. |journal=Nature |volume=440 |issue= 7084 |pages= 671–5 |year= 2006 |pmid= 16572171 |doi= 10.1038/nature04601 }}
*{{cite journal   |vauthors=Zody MC, Garber M, Sharpe T, etal |title=Analysis of the DNA sequence and duplication history of human chromosome 15. |journal=Nature |volume=440 |issue= 7084 |pages= 671–5 |year= 2006 |pmid= 16572171 |doi= 10.1038/nature04601 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Jovine L, Park J, Wassarman PM |title=Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. |journal=BMC Cell Biol. |volume=3 |issue=  |pages= 28 |year= 2003 |pmid= 12445334 |doi= }}
*{{cite journal  | vauthors=Jovine L, Park J, Wassarman PM |title=Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. |journal=BMC Cell Biol. |volume=3|pages= 28 |year= 2003 |pmid= 12445334 |doi=10.1186/1471-2121-3-28  | pmc=139993  }}
*{{cite journal  | author=Verpy E, Masmoudi S, Zwaenepoel I, ''et al.'' |title=Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 345–9 |year= 2001 |pmid= 11687802 |doi= 10.1038/ng726 }}
*{{cite journal   |vauthors=Villamar M, del Castillo I, Valle N, etal |title=Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1238–41 |year= 2000 |pmid= 10090914 |doi=10.1086/302321 | pmc=1377853 }}
*{{cite journal | author=Villamar M, del Castillo I, Valle N, ''et al.'' |title=Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1238–41 |year= 2000 |pmid= 10090914 |doi=  }}
*{{cite journal  | author=Campbell DA, McHale DP, Brown KA, ''et al.'' |title=A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. |journal=J. Med. Genet. |volume=34 |issue= 12 |pages= 1015–7 |year= 1998 |pmid= 9429146 |doi=  }}
}}
}}
{{refend}}
{{refend}}


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{{Epithelial proteins}}
{{Other cell membrane proteins}}

Latest revision as of 07:13, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Stereocilin is a protein that in humans is encoded by the STRC gene.[1][2][3]

This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness.[3]

References

  1. ↑ Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C (Nov 2001). "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus". Nat Genet. 29 (3): 345–9. doi:10.1038/ng726. PMID 11687802.
  2. ↑ Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF (Feb 1998). "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22". J Med Genet. 34 (12): 1015–7. doi:10.1136/jmg.34.12.1015. PMC 1051155. PMID 9429146.
  3. ↑ 3.0 3.1 "Entrez Gene: STRC stereocilin".

Further reading


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