TMC6

TMC6
Identifikatori
Aliasi	TMC6
Vanjski ID-jevi	OMIM: 605828 MGI: 1098686 HomoloGene: 5258 GeneCards: TMC6
Lokacija gena (čovjek) Hrom. Hromosom 17 (čovjek) Bend 17q25.3 Početak 78,107,397 bp Kraj 78,132,407 bp
Lokacija gena (miš) Hrom. Hromosom 11 (miš) Bend 11 E2|11 82.96 cM Početak 117,656,814 bp Kraj 117,673,024 bp
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • ion channel activity • mechanosensitive ion channel activity Ćelijska komponenta • citoplazma • integral component of membrane • Golđijev aparat • Jedarna membrana • Egzosom • endoplasmic reticulum membrane • Endoplazmatski retikulum • membrana • ćelijska membrana • specific granule membrane • tertiary granule membrane • integral component of plasma membrane Biološki proces • ion transport • neutrophil degranulation • GO:0015915 transport • GO:0022610 biološki proces • ion transmembrane transport • transmembrane transport Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	11322	217353
Ensembl	ENSG00000141524	ENSMUSG00000025572
UniProt	Q7Z403	Q7TN60
RefSeq (mRNK)	NM_001127198 NM_007267 NM_001321185 NM_001374593 NM_001374863 NM_001375353 NM_001375354 NM_001374596	NM_145439 NM_181321
RefSeq (bjelančevina)	NP_001120670 NP_001308114 NP_009198 NP_001361522 NP_001361523 NP_001362282 NP_001362283 NP_001361525	NP_663414
Lokacija (UCSC)	Chr 17: 78.11 – 78.13 Mb	Chr 11: 117.66 – 117.67 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Transmembranski kanaloliki protein 6 je protein koji je kod ljudi kodiran genom TMC6. In vivo, TMC6 i njegov homolog TMC8, interreagiraju i čine kompleks sa transporterom cinka 1 (SLC30A1) i lokalizuju se uglavnom na endoplazmatski retikulum, ali i na jedarnu membranu i Golgijev aparat.

Inaktivacijske mutacije u TMC6 ili TMC8 implicirane su kao genetički uzrok rijetkog kožnog poremećaja epidermodysplasia verruciformis, koji se odlikuje abnormalnom osjetljivošću na ljudske papiloma viruse (HPV) kože, što rezultira rastom ljuskavih makula i papula, posebno na rukama i nogama.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 805 aminokiselina, a molekulska težina 90.045 Da.

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10		20		30		40		50
MAQPLAFILD		VPETPGDQGQ		GPSPYDESEV		HDSFQQLIQE		QSQCTAQEGL
ELQQREREVT		GSSQQTLWRP		EGTQSTATLR		ILASMPSRTI		GRSRGAIISQ
YYNRTVQLRC		RSSRPLLGNF		VRSAWPSLRL		YDLELDPTAL		EEEEKQSLLV
KELQSLAVAQ		RDHMLRGMPL		SLAEKRSLRE		KSRTPRGKWR		GQPGSGGVCS
CCGRLRYACV		LALHSLGLAL		LSALQALMPW		RYALKRIGGQ		FGSSVLSYFL
FLKTLLAFNA		LLLLLLVAFI		MGPQVAFPPA		LPGPAPVCTG		LELLTGAGCF
THTVMYYGHY		SNATLNQPCG		SPLDGSQCTP		RVGGLPYNMP		LAYLSTVGVS
FFITCITLVY		SMAHSFGESY		RVGSTSGIHA		ITVFCSWDYK		VTQKRASRLQ
QDNIRTRLKE		LLAEWQLRHS		PRSVCGRLRQ		AAVLGLVWLL		CLGTALGCAV
AVHVFSEFMI		QSPEAAGQEA		VLLVLPLVVG		LLNLGAPYLC		RVLAALEPHD
SPVLEVYVAI		CRNLILKLAI		LGTLCYHWLG		RRVGVLQGQC		WEDFVGQELY
RFLVMDFVLM		LLDTLFGELV		WRIISEKKLK		RRRKPEFDIA		RNVLELIYGQ
TLTWLGVLFS		PLLPAVQIIK		LLLVFYVKKT		SLLANCQAPR		RPWLASHMST
VFLTLLCFPA		FLGAAVFLCY		AVWQVKPSST		CGPFRTLDTM		YEAGRVWVRH
LEAAGPRVSW		LPWVHRYLME		NTFFVFLVSA		LLLAVIYLNI		QVVRGQRKVI
CLLKEQISNE		GEDKIFLINK		LHSIYERKER		EERSRVGTTE		EAAAPPALLT
DEQDA

Dopunska literatura

• 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. 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.