STRC: Difference between revisions

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Latest revision as of 07:13, 11 September 2017

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

↑ 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.
↑ 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.
↑ ^3.0 ^3.1 "Entrez Gene: STRC stereocilin".

Bitner-Glindzicz M (2002). "Hereditary deafness and phenotyping in humans". Br. Med. Bull. 63: 73–94. doi:10.1093/bmb/63.1.73. PMID 12324385.
Zody MC, Garber M, Sharpe T, et al. (2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671–5. doi:10.1038/nature04601. PMID 16572171.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Jovine L, Park J, Wassarman PM (2003). "Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear". BMC Cell Biol. 3: 28. doi:10.1186/1471-2121-3-28. PMC 139993. PMID 12445334.
Villamar M, del Castillo I, Valle N, et al. (2000). "Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132". Am. J. Hum. Genet. 64 (4): 1238–41. doi:10.1086/302321. PMC 1377853. PMID 10090914.

[pmid11687802-1] 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.

[pmid9429146-2] 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.

[entrez-3] 3.0 ^3.1 "Entrez Gene: STRC stereocilin".

[1]

[2]

[3]

@@ Line 1: / Line 1: @@
+{{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>
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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-| update_protein_box = yes
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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>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | 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==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | 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}}
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+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
-{{WikiDoc Sources}}
+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+{{Epithelial proteins}}
+{{Other cell membrane proteins}}

v t e Proteins of epithelium
Lateral/cell-cell	Cell adhesion molecules: Adherens junction Cadherin Desmosome Desmoglein Ion channels: Gap junction/Connexon Connexin Cytoskeleton: Desmosome Desmoplakin Plakoglobin Tonofibril other membrane proteins: Tight junction Claudin Occludin MARVELD2
Basal/cell-matrix	Basal lamina Hemidesmosome/Tonofibril Focal adhesion Costamere
Apical	Cilia/Kinocilium Microvilli/Stereocilia (STRC)

v t e Protein: cell membrane proteins (other than Cell surface receptor, enzymes, and cytoskeleton)
Arrestin	SAG ARRB1 ARRB2 ARR3
Membrane-spanning 4A	MS4A1 MS4A2 MS4A3 MS4A4A MS4A4E MS4A5 MS4A6A MS4A6E MS4A7 MS4A8B MS4A9 MS4A10 MS4A12 MS4A13 MS4A14 MS4A15 MS4A18
Myelin	Myelin basic protein PMP2 Myelin proteolipid protein PLP1 Myelin oligodendrocyte glycoprotein Myelin-associated glycoprotein Myelin protein zero
Pulmonary surfactant	Pulmonary surfactant-associated protein B Pulmonary surfactant-associated protein C
Tetraspanin	TSPAN1 TSPAN2 TSPAN3 TSPAN4 TSPAN5 TSPAN6 TSPAN7 TSPAN8 TSPAN9 TSPAN10 TSPAN11 TSPAN12 TSPAN13 TSPAN14 TSPAN15 TSPAN16 TSPAN17 TSPAN18 TSPAN19 TSPAN20 TSPAN21 TSPAN22 TSPAN23 TSPAN24 TSPAN25 TSPAN26 TSPAN27 TSPAN28 TSPAN29 TSPAN30 TSPAN31 TSPAN32 TSPAN33 TSPAN34
Other/ungrouped	Calnexin LDL-receptor-related protein-associated protein Neurofibromin 2 Presenilin PSEN1 PSEN2 HFE Phospholipid transfer proteins Dysferlin STRC OTOF
see also other cell membrane protein disorders

STRC: Difference between revisions

Latest revision as of 07:13, 11 September 2017

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