TMC6

TMC6
Identifiers
Aliases	TMC6 , EV1, EVER1, EVIN1, LAK-4P, transmembrane channel like 6, TNRC6C-AS1, lnc
External IDs	OMIM: 605828; MGI: 1098686; HomoloGene: 5258; GeneCards: TMC6; OMA:TMC6 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.3 Start 78,107,397 bp [1] End 78,132,407 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 E2|11 82.96 cM Start 117,656,814 bp [2] End 117,673,024 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte C1 segment lymph node spleen apex of heart sural nerve upper lobe of left lung mucosa of transverse colon buccal mucosa cell appendix Top expressed in granulocyte thymus blood otic placode mesenteric lymph nodes lumbar spinal ganglion saccule lip tibiofemoral joint Ileal epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding ion channel activity mechanosensitive ion channel activity Cellular component cytoplasm integral component of membrane Golgi apparatus nuclear membrane extracellular exosome endoplasmic reticulum membrane endoplasmic reticulum membrane plasma membrane specific granule membrane tertiary granule membrane integral component of plasma membrane Biological process ion transport neutrophil degranulation transport biological process ion transmembrane transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11322 217353 Ensembl ENSG00000141524 ENSMUSG00000025572 UniProt Q7Z403 Q7TN60 RefSeq (mRNA) NM_001127198 NM_007267 NM_001321185 NM_001374593 NM_001374594 NM_001375353 NM_001375354 NM_001374596 NM_145439 NM_181321 RefSeq (protein) NP_001120670 NP_001308114 NP_009198 NP_001361522 NP_001361523 NP_001362282 NP_001362283 NP_001361525 NP_663414 Location (UCSC) Chr 17: 78.11 – 78.13 Mb Chr 11: 117.66 – 117.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane channel-like protein 6 is a protein that in humans is encoded by the TMC6 gene. ^{[5] [6]} 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. ^[7]

Inactivating mutations in TMC6 or TMC8 have been implicated as the genetic cause of the rare skin disorder epidermodysplasia verruciformis, ^[7] 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. GRCh38: Ensembl release 89: ENSG00000141524 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025572 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   20013445.
6. "Entrez Gene: TMC6 transmembrane channel-like 6".
7. 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.

Further reading

• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Zuo YG, Ma D, Zhang Y, et al. (2007). "Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis". J. Dermatol. Sci. 44 (3): 153–9. doi:10.1016/j.jdermsci.2006.08.013. PMID   17008061.
• Donfack J, Buchinsky FJ, Derkay CS, et al. (2006). "Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP". Int. J. Pediatr. Otorhinolaryngol. 70 (7): 1235–40. doi:10.1016/j.ijporl.2006.01.001. PMID   16487602.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Tate G, Suzuki T, Kishimoto K, Mitsuya T (2004). "Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis". J. Hum. Genet. 49 (4): 223–5. doi: 10.1007/s10038-004-0135-6 . PMID   15042430.
• 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.
• Kurima K, Yang Y, Sorber K, Griffith AJ (2004). "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis". Genomics. 82 (3): 300–8. doi:10.1016/S0888-7543(03)00154-X. PMID   12906855.
• Keresztes G, Mutai H, Heller S (2003). "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins". BMC Genomics. 4 (1): 24. doi: 10.1186/1471-2164-4-24 . PMC   165604 . PMID   12812529.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ramoz N, Taïeb A, Rueda LA, et al. (2000). "Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25". J. Invest. Dermatol. 114 (6): 1148–53. doi: 10.1046/j.1523-1747.2000.00996.x . PMID   10844558.
• Ramoz N, Rueda LA, Bouadjar B, et al. (1999). "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". J. Invest. Dermatol. 112 (3): 259–63. doi: 10.1046/j.1523-1747.1999.00536.x . PMID   10084299.