TMC6: Difference between revisions

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{{Infobox_gene}}
'''Transmembrane channel-like protein 6''' is a [[protein]] that in humans is encoded by the ''TMC6'' [[gene]].<ref name="pmid12426567">{{cite journal |vauthors=Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M | title = Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis | journal = Nat Genet | volume = 32 | issue = 4 | pages = 579–81 |date=Nov 2002 | pmid = 12426567 | pmc =  | doi = 10.1038/ng1044 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TMC6 transmembrane channel-like 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11322| accessdate = }}</ref> ''In vivo'', TMC6 and its homolog [[TMC8]], interact and form a complex with the zinc transporter 1 ([[SLC30A1]]) and localize mostly to the [[endoplasmic reticulum]], but also to the [[nuclear membrane]] and [[Golgi apparatus]].<ref name="EVER HPV">{{cite journal|title=Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses|journal=The Journal of Experimental Medicine|date=2008-01-21|first=M|last=Lazarczyk|author2=C Pons |author3=JA Mendoza |author4=P Cassonnet |author5=Y Jacob |author6=M Favre |volume=205|issue=1|pages=35–42|pmid=18158319 |url=|format=|accessdate=2008-09-19|doi=10.1084/jem.20071311|pmc=2234378 }}</ref>
Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder [[epidermodysplasia verruciformis]],<ref name="EVER HPV"/> which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly [[macules]] and [[papules]], particularly on the hands and feet.
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal  |vauthors=Zuo YG, Ma D, Zhang Y, etal |title=Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. |journal=J. Dermatol. Sci. |volume=44 |issue= 3 |pages= 153–9 |year= 2007 |pmid= 17008061 |doi= 10.1016/j.jdermsci.2006.08.013 }}
*{{cite journal  |vauthors=Donfack J, Buchinsky FJ, Derkay CS, etal |title=Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. |journal=Int. J. Pediatr. Otorhinolaryngol. |volume=70 |issue= 7 |pages= 1235–40 |year= 2006 |pmid= 16487602 |doi= 10.1016/j.ijporl.2006.01.001 }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
*{{cite journal  |vauthors=Tate G, Suzuki T, Kishimoto K, Mitsuya T |title=Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. |journal=J. Hum. Genet. |volume=49 |issue= 4 |pages= 223–5 |year= 2004 |pmid= 15042430 |doi= 10.1007/s10038-004-0135-6 }}
*{{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  |vauthors=Kurima K, Yang Y, Sorber K, Griffith AJ |title=Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. |journal=Genomics |volume=82 |issue= 3 |pages= 300–8 |year= 2004 |pmid= 12906855 |doi=10.1016/S0888-7543(03)00154-X  }}
*{{cite journal  |vauthors=Keresztes G, Mutai H, Heller S |title=TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. |journal=BMC Genomics |volume=4 |issue= 1 |pages= 24 |year= 2003 |pmid= 12812529 |doi= 10.1186/1471-2164-4-24  | pmc=165604 }}
*{{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  |vauthors=Ramoz N, Taïeb A, Rueda LA, etal |title=Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. |journal=J. Invest. Dermatol. |volume=114 |issue= 6 |pages= 1148–53 |year= 2000 |pmid= 10844558 |doi= 10.1046/j.1523-1747.2000.00996.x }}
*{{cite journal  |vauthors=Ramoz N, Rueda LA, Bouadjar B, etal |title=A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. |journal=J. Invest. Dermatol. |volume=112 |issue= 3 |pages= 259–63 |year= 1999 |pmid= 10084299 |doi= 10.1046/j.1523-1747.1999.00536.x }}
}}
{{refend}}
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{{Metal metabolism}}
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Transmembrane channel-like 6
| HGNCid = 18021
| Symbol = TMC6
| AltSymbols =; EV1; EVER1; EVIN1; LAK-4P
| OMIM = 605828
| ECnumber = 
| Homologene = 5258
| MGIid = 1098686
| Function =
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 11322
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_009198
    | Hs_RefseqmRNA = NM_007267
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 217353
    | Mm_Ensembl = ENSMUSG00000025572
    | Mm_RefseqmRNA = NM_145439
    | Mm_RefseqProtein = NP_663414
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 117582076
    | Mm_GenLoc_end = 117596729
    | Mm_Uniprot = Q99K19
  }}
}}
'''Transmembrane channel-like 6''', also known as '''TMC6''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TMC6 transmembrane channel-like 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11322| 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 =
}}
==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal  | author=Zuo YG, Ma D, Zhang Y, ''et al.'' |title=Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. |journal=J. Dermatol. Sci. |volume=44 |issue= 3 |pages= 153-9 |year= 2007 |pmid= 17008061 |doi= 10.1016/j.jdermsci.2006.08.013 }}
*{{cite journal  | author=Donfack J, Buchinsky FJ, Derkay CS, ''et al.'' |title=Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. |journal=Int. J. Pediatr. Otorhinolaryngol. |volume=70 |issue= 7 |pages= 1235-40 |year= 2006 |pmid= 16487602 |doi= 10.1016/j.ijporl.2006.01.001 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Tate G, Suzuki T, Kishimoto K, Mitsuya T |title=Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. |journal=J. Hum. Genet. |volume=49 |issue= 4 |pages= 223-5 |year= 2004 |pmid= 15042430 |doi= 10.1007/s10038-004-0135-6 }}
*{{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  | author=Kurima K, Yang Y, Sorber K, Griffith AJ |title=Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. |journal=Genomics |volume=82 |issue= 3 |pages= 300-8 |year= 2004 |pmid= 12906855 |doi=  }}
*{{cite journal  | author=Keresztes G, Mutai H, Heller S |title=TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. |journal=BMC Genomics |volume=4 |issue= 1 |pages= 24 |year= 2003 |pmid= 12812529 |doi= 10.1186/1471-2164-4-24 }}
*{{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  | author=Ramoz N, Rueda LA, Bouadjar B, ''et al.'' |title=Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. |journal=Nat. Genet. |volume=32 |issue= 4 |pages= 579-81 |year= 2003 |pmid= 12426567 |doi= 10.1038/ng1044 }}
*{{cite journal  | author=Ramoz N, Taïeb A, Rueda LA, ''et al.'' |title=Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. |journal=J. Invest. Dermatol. |volume=114 |issue= 6 |pages= 1148-53 |year= 2000 |pmid= 10844558 |doi= 10.1046/j.1523-1747.2000.00996.x }}
*{{cite journal  | author=Ramoz N, Rueda LA, Bouadjar B, ''et al.'' |title=A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. |journal=J. Invest. Dermatol. |volume=112 |issue= 3 |pages= 259-63 |year= 1999 |pmid= 10084299 |doi= 10.1046/j.1523-1747.1999.00536.x }}
}}
{{refend}}


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{{protein-stub}}
{{WikiDoc Sources}}

Revision as of 11:57, 15 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

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene.[1][2] In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 (SLC30A1) and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus.[3]

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis,[3] which is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin resulting in the growth of scaly macules and papules, particularly on the hands and feet.

References

  1. ↑ Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M (Nov 2002). "Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis". Nat Genet. 32 (4): 579–81. doi:10.1038/ng1044. PMID 12426567.
  2. ↑ "Entrez Gene: TMC6 transmembrane channel-like 6".
  3. ↑ 3.0 3.1 Lazarczyk, M; C Pons; JA Mendoza; P Cassonnet; Y Jacob; M Favre (2008-01-21). "Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses". The Journal of Experimental Medicine. 205 (1): 35–42. doi:10.1084/jem.20071311. PMC 2234378. PMID 18158319. |access-date= requires |url= (help)

Further reading



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