Description: Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 1, mRNA. RefSeq Summary (NM_007267): Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:76,116,252-76,124,861 Size: 8,610 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr17:76,116,730-76,122,913 Size: 6,184 Coding Exon Count: 12
ID:TMC6_HUMAN DESCRIPTION: RecName: Full=Transmembrane channel-like protein 6; AltName: Full=Epidermodysplasia verruciformis protein 1; AltName: Full=Protein LAK-4; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes. DISEASE: Defects in TMC6 are a cause of epidermodysplasia verruciformis (EV) [MIM:226400]. It is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions. SIMILARITY: Belongs to the TMC family. SEQUENCE CAUTION: Sequence=AAH35648.1; Type=Erroneous initiation; Sequence=BAA24179.2; Type=Erroneous initiation; Sequence=BAB84891.1; Type=Erroneous initiation; WEB RESOURCE: Name=TMC6base; Note=TMC6 mutation db; URL="http://bioinf.uta.fi/TMC6base/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z403
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.