TMC6
entrez
11322
canonical
uniprot
Q7Z403
canonical
ensembl
ENSG00000141524
resolver
ensp
ENSP00000313408
resolver
ensp
ENSP00000465261
resolver
ensp
ENSP00000466885
resolver
ensp
ENSP00000468255
resolver
ensp
ENSP00000513791
resolver
ensp
ENSP00000513793
resolver
ensp
ENSP00000563515
resolver
ensp
ENSP00000563516
resolver
ensp
ENSP00000563520
resolver
ensp
ENSP00000563521
resolver
ensp
ENSP00000563522
resolver
ensp
ENSP00000563530
resolver
ensp
ENSP00000563531
resolver
ensp
ENSP00000563532
resolver
ensp
ENSP00000563533
resolver
ensp
ENSP00000563538
resolver
ensp
ENSP00000563539
resolver
ensp
ENSP00000563545
resolver
ensp
ENSP00000563548
resolver
ensp
ENSP00000563549
resolver
ensp
ENSP00000563554
resolver
ensp
ENSP00000563555
resolver
ensp
ENSP00000563556
resolver
ensp
ENSP00000563557
resolver
ensp
ENSP00000563558
resolver
ensp
ENSP00000563560
resolver
ensp
ENSP00000592797
resolver
ensp
ENSP00000592799
resolver
ensp
ENSP00000592806
resolver
ensp
ENSP00000642443
resolver
enst
ENST00000698548
resolver
enst
ENST00000893456
resolver
enst
ENST00000893462
resolver
enst
ENST00000893479
resolver
enst
ENST00000893480
resolver
enst
ENST00000893489
resolver
enst
ENST00000893495
resolver
enst
ENST00000893497
resolver
enst
ENST00000893499
resolver
enst
ENST00000922738
resolver
enst
ENST00000922740
resolver
enst
ENST00000972384
resolver
genesymbol
TMC6
resolver
genesymbol_syn
EVER1
resolver
genesymbol_syn
EVIN1
resolver
hgnc
HGNC:18021
resolver
uniprot
A0A8V8TLY1
resolver
uniprot
O43284
resolver
uniprot
Q45VJ2
resolver
uniprot
Q8IU98
resolver
uniprot
Q8IUI7
resolver
uniprot
Q8IWU8
resolver
uniprot
Q8TEQ7
resolver
uniprot
Q9HAG5
resolver
uniprot_entry
A0A8V8TLY1_HUMAN
resolver
uniprot_entry
TMC6_HUMAN
resolver
uniprot_sec
O43284
resolver
uniprot_sec
Q45VJ2
resolver
uniprot_sec
Q8IU98
resolver
uniprot_sec
Q8IUI7
resolver
uniprot_sec
Q8IWU8
resolver
uniprot_sec
Q8TEQ7
resolver
uniprot_sec
Q9HAG5
resolver
amino_acid_sequence
MAQPLAFILDVPETPGDQGQGPSPYDESEVHDSFQQLIQEQSQCTAQEGLELQQREREVTGSSQQTLWRPEGTQSTATLRILASMPSRTIGRSRGAIISQYYNRTVQLRCRSSRPLLGNFVRSAWPSLRLYDLELDPTALEEEEKQSLLVKELQSLAVAQRDHMLRGMPLSLAEKRSLREKSRTPRGKWRGQPGSGGVCSCCGRLRYACVLALHSLGLALLSALQALMPWRYALKRIGGQFGSSVLSYFLFLKTLLAFNALLLLLLVAFIMGPQVAFPPALPGPAPVCTGLELLTGAGCFTHTVMYYGHYSNATLNQPCGSPLDGSQCTPRVGGLPYNMPLAYLSTVGVSFFITCITLVYSMAHSFGESYRVGSTSGIHAITVFCSWDYKVTQKRASRLQQDNIRTRLKELLAEWQLRHSPRSVCGRLRQAAVLGLVWLLCLGTALGCAVAVHVFSEFMIQSPEAAGQEAVLLVLPLVVGLLNLGAPYLCRVLAALEPHDSPVLEVYVAICRNLILKLAILGTLCYHWLGRRVGVLQGQCWEDFVGQELYRFLVMDFVLMLLDTLFGELVWRIISEKKLKRRRKPEFDIARNVLELIYGQTLTWLGVLFSPLLPAVQIIKLLLVFYVKKTSLLANCQAPRRPWLASHMSTVFLTLLCFPAFLGAAVFLCYAVWQVKPSSTCGPFRTLDTMYEAGRVWVRHLEAAGPRVSWLPWVHRYLMENTFFVFLVSALLLAVIYLNIQVVRGQRKVICLLKEQISNEGEDKIFLINKLHSIYERKEREERSRVGTTEEAAAPPALLTDEQDA
uniprot
proteins
disease_involvement
DISEASE: Epidermodysplasia verruciformis 1 (EV1) [MIM:226400]: A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive. {ECO:0000269|PubMed:12426567, ECO:0000269|PubMed:15042430}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:30068544, PubMed:32917726). Together with its homolog TMC8/EVER2, forms a complex with CIB1 in lymphocytes and keratynocytes where TMC6 and TMC8 stabilize CIB1 and reciprocally (PubMed:30068544, PubMed:32917726). Together with TMC8, also forms a complex with and activates zinc transporter ZNT1 at the ER membrane of keratynocytes, thereby facilitating zinc uptake into the ER (PubMed:18158319). Down-regulates the activity of transcription factors induced by zinc and cytokines (PubMed:18158319). Also plays a role in thermal sensation by inhibiting the M-channel (KCNQ2-KCNQ3 channel) current in primary sensory neurons (By similarity). {ECO:0000250|UniProtKB:Q7TN60, ECO:0000269|PubMed:18158319, ECO:0000269|PubMed:30068544, ECO:0000269|PubMed:32917726}.
uniprot
proteins
mass_dalton
90045
uniprot
proteins
protein_family
TMC family
uniprot
proteins
pubmed
12426567
uniprot
proteins
pubmed
12906855
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15042430
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18158319
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
30068544
uniprot
proteins
pubmed
32917726
uniprot
proteins
sequence_length
805
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12426567}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:18158319}; Multi-pass membrane protein {ECO:0000255}. Nucleus membrane {ECO:0000269|PubMed:18158319}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to the ER, Golgi and nucleus membranes in keratinocytes. {ECO:0000269|PubMed:18158319}.
uniprot
proteins
transmembrane_region
TRANSMEM 210..230; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 432..452; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 470..490; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 506..526; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 554..574; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 605..625; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 651..671; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 723..743; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins