TMC6 - transmembrane channel like 6 Gene
Also Known as EV1; lnc; EVER1; EVIN1; LAK-4P; TNRC6C-AS1
Species: Homo sapiens
About TMC6
This gene has 32 transcripts (splice variants), 260 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 21.6), lymph node (RPKM 18.5) and 20 other tissues.
Summary
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]
TMC6 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127198.5 | NP_001120670.1 | transmembrane channel-like protein 6 isoform 1 |
| NM_001321185.1 | NP_001308114.1 | transmembrane channel-like protein 6 isoform 1 |
| NM_001374593.1 | NP_001361522.1 | transmembrane channel-like protein 6 isoform 2 |
| NM_001374594.1 | NP_001361523.1 | transmembrane channel-like protein 6 isoform 2 |
| NM_001374596.1 | NP_001361525.1 | transmembrane channel-like protein 6 isoform 1 |
| NM_001375353.1 | NP_001362282.1 | transmembrane channel-like protein 6 isoform 1 |
| NM_001375354.1 | NP_001362283.1 | transmembrane channel-like protein 6 isoform 1 |
| NM_007267.7 | NP_009198.4 | transmembrane channel-like protein 6 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18158319 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in intracellular zinc ion homeostasis |
IDA
IDA: Inferred from direct assay
|
18158319 | GOA |
| involved in protein stabilization |
IMP
IMP: Inferred from mutant phenotype
|
32917726 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
18158319 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12426567 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
12426567 | GOA |
| located in nuclear membrane |
IDA
IDA: Inferred from direct assay
|
18158319 | GOA |
TMC6 Protein Structure
TMC: TMC domain (540 - 646)
- 0
- 200
- 400
- 600
- 805 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transmembrane channel-like protein 6 |
|
TMC6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TMC6 | Q7Z403 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TMC6 | Q7Z403 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TMC6 | Q7Z403 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TMC6 | Q7Z403 | ZBTB2 | Homo sapiens | Q8N680 | 32296183 | |
|
Intra
|
TMC6 | Q7Z403 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
TMC6 | Q7Z403 | PECAM1 | Homo sapiens | P16284 | 32814053 | |
|
Intra
|
TMC6 | Q7Z403 | PECAM1 | Homo sapiens | P16284 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Epidermodysplasia Verruciformis 1 |
|
|
| Skin Carcinoma |
|
|
| Pityriasis Versicolor |
|
|
| Superficial Mycosis |
|
|
| Common Wart |
|
|
| Plantar Wart |
|
|
| Deafness, Autosomal Recessive 76 |
|
|
| Epidemic Pleurodynia |
|
|
| Angiokeratoma Of Fordyce |
|
|
| Focal Epithelial Hyperplasia |
|
|
| Keratosis, Seborrheic |
|
|
| Acanthoma |
|
|
| Whim Syndrome 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TMC6 | VGNC | VGNC:35922 |
| Rattus norvegicus | TMC6 | RGD | RGD:1591146 |
| Canis familiaris | TMC6 | VGNC | VGNC:47425 |
| Mus musculus | TMC6 | MGD | MGI:1098686 |
| Macaca mulatta | TMC6 | VGNC | VGNC:79109 |
| Others | TMC6 | NCBI |