1.A.17.4.10
Transmembrane channel 6, TMC6/EVER1 of 805 aas. Mutations give rise to epidermodysplasia verruciformis (EV), a rare genodermatosis, characterized by increased sensitivity
to infection by the beta-subtype of human papillomaviruses (beta-HPVs), causing persistent, tinea
versicolor-like dermal lesions (Horton and Stokes 2014). Biallelic mutations in either TMC6 or TMC8 are detected in more than half of the cases of the pre-malignant skin disease epidermodysplasia verruciformis (EV) which together form a complex with CIB1 (TC# 8.A.82.1.9) (Wu et al. 2020).
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| Accession Number: | Q7Z403 |
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| Protein Name: | Transmembrane channel-like protein 6 |
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| Length: | 805 |
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| Molecular Weight: | 90045.00 |
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| Species: | Homo sapiens (Human) [9606] |
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| Number of TMSs: | 12 |
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| Location1 / Topology2 / Orientation3: |
Endoplasmic reticulum membrane1 / Multi-pass membrane protein2 |
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| Substrate |
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1: MAQPLAFILD VPETPGDQGQ GPSPYDESEV HDSFQQLIQE QSQCTAQEGL ELQQREREVT
61: GSSQQTLWRP EGTQSTATLR ILASMPSRTI GRSRGAIISQ YYNRTVQLRC RSSRPLLGNF
121: VRSAWPSLRL YDLELDPTAL EEEEKQSLLV KELQSLAVAQ RDHMLRGMPL SLAEKRSLRE
181: KSRTPRGKWR GQPGSGGVCS CCGRLRYACV LALHSLGLAL LSALQALMPW RYALKRIGGQ
241: FGSSVLSYFL FLKTLLAFNA LLLLLLVAFI MGPQVAFPPA LPGPAPVCTG LELLTGAGCF
301: THTVMYYGHY SNATLNQPCG SPLDGSQCTP RVGGLPYNMP LAYLSTVGVS FFITCITLVY
361: SMAHSFGESY RVGSTSGIHA ITVFCSWDYK VTQKRASRLQ QDNIRTRLKE LLAEWQLRHS
421: PRSVCGRLRQ AAVLGLVWLL CLGTALGCAV AVHVFSEFMI QSPEAAGQEA VLLVLPLVVG
481: LLNLGAPYLC RVLAALEPHD SPVLEVYVAI CRNLILKLAI LGTLCYHWLG RRVGVLQGQC
541: WEDFVGQELY RFLVMDFVLM LLDTLFGELV WRIISEKKLK RRRKPEFDIA RNVLELIYGQ
601: TLTWLGVLFS PLLPAVQIIK LLLVFYVKKT SLLANCQAPR RPWLASHMST VFLTLLCFPA
661: FLGAAVFLCY AVWQVKPSST CGPFRTLDTM YEAGRVWVRH LEAAGPRVSW LPWVHRYLME
721: NTFFVFLVSA LLLAVIYLNI QVVRGQRKVI CLLKEQISNE GEDKIFLINK LHSIYERKER
781: EERSRVGTTE EAAAPPALLT DEQDA