1.A.17.4.11 Transmembrane channel 8, TMC8/EVER2/EVIN2 of 726 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) as well as increased incidence of cancer, causing persistent, tinea
versicolor-like dermal lesions (Horton and Stokes 2014). This is due to release of Zn2+ and Ca2+ from the endoplasmic reticulum (Sirianant et al. 2014). The channel-like domain has been identified (Miyauchi et al. 2016). It plays a role in several aspects of human pathophysiology, such as ion channel permeability, human papillomavirus infection and skin cancer (Lu et al. 2017). 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) in lymphocytes (Wu et al. 2020). TMC8 is a prognostic immune-associated gene in head and neck squamous cancer (HNSC) cells (Lin et al. 2021).
|
Accession Number: | Q8IU68 |
Protein Name: | Transmembrane channel-like protein 8 |
Length: | 726 |
Molecular Weight: | 81641.00 |
Species: | Homo sapiens (Human) [9606] |
Number of TMSs: | 10 |
Location1 / Topology2 / Orientation3: |
Endoplasmic reticulum membrane1 / Multi-pass membrane protein2 |
Substrate |
calcium(2+), zinc(2+) |
---|
1: MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW QLREPAGVQT
61: LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG LFGTGIRSYF TFLRFLLLLN
121: LLSLLLTASF VLLPLVWLRP PDPGPTLNLT LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT
181: NTYLFYGAYR VGPESSSVYS IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA
241: PLSAKVFSSW DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL
301: RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL GPLLFTFLVQ
361: LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG RDKSSCESYG YNVCDYQCWE
421: NSVGEELYKL SIFNFLLTVA FAFLVTLPRR LLVDRFSGRF WAWLEREEFL VPKNVLDIVA
481: GQTVTWMGLF YCPLLPLLNS VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL
541: GLLLAAVPLG YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS
601: FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL PEPGPSDSPG
661: PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG LRSPCPGQHG APASARRFRF
721: PSGAEL