Transmembrane channel-like protein 8 (TMC8)
The protein contains 726 amino acids for an estimated molecular weight of 81641 Da.
Probable ion channel. (updated: March 1, 2003)
Protein identification was indicated in the following studies:
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs7208422 | |
| dbSNP:rs11651675 |
Biological Process
Ion transport
Negative regulation of protein binding
Negative regulation of protein oligomerization
Negative regulation of protein-containing complex assembly
Regulation of cell growth
Regulation of extrinsic apoptotic signaling pathway via death domain receptors
Zinc ion homeostasis
The reference OMIM entry for this protein is 226400
Epidermodysplasia verruciformis; ev
Ever
A number sign (#) is used with this entry because epidermodysplasia verruciformis can be caused by mutations in either of 2 adjacent genes located on 17q25: TMC6 (605828) or TMC8 (605829).
DESCRIPTION
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al., 2000). EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas.CLINICAL FEATURES
The lesions often resemble verrucae planae (Sullivan and Ellis, 1939). The mucous membranes, hair, and nails are not affected. Malignant degeneration, usually of the superficial basal cell type, is frequent. Characteristic changes in the epidermal cells with peculiar vacuolization are observed. Ellis (1953) stated that this disorder occurs most frequently in Orientals.INHERITANCE
Sullivan and Ellis (1939) found that of the 16 previously reported families, 4 had consanguineous parents. Familial aggregation was described by Midana (1949) and by Jablonska et al. (1966). Hermann (1955) found parental consanguinity. Lutzner (1977) considered this an autosomal recessive disorder. The family reported by Jablonska et al. (1979) suggested autosomal dominant inheritance. The fact that spouses and some family members stayed free of the disease speaks against intrafamilial infection as the cause. Feuerman et al. (1979) reported the cases of 2 Arab brothers. The parents and 7 sibs were unaffected.PATHOGENESIS
The view that epidermodysplasia verruciformis is an extensive form of viral verrucae planae is supported by successful autoinoculation and heteroinoculation experiments. Lutz (1957) was one of the first to describe the condition; he accepted that it is not an entity but suggested that genetic predisposition may account for the extensiveness of the eruption of warts. By electron microscopy, Baker (1968) and others demonstrated particles suggesting papovavirus. The common wart virus can be demonstrated in the warts by both electron and fluorescent microscopy (Yabe and Sadakane, 1975). Warts appear to progress to squamous cell carcinoma in about 10% of cases (Lutzner, 1977). As in Shope papilloma, virus is no longer demonstrable in the cancers. Jablonska et al. (1979) observed papillomaviruses (HPVs), either HPV3 or HPV4 and sometimes both, in cases and found that the clinical picture differed depending on which virus was involved. Malignancies developed only in family members infected with HPV4. Orth et al. (1979) pointed to papillomavirus type 5 as the determinant of malignant evolution of the warts. Individuals with epidermodysplasia verruciformis are not prone to bacterial, fungal, or viral infections, and are not abnormally susceptible to genital papillomaviral infections.MOLECULAR GENETICS
Ramoz et al. (2002) studied 2 Algerian and 2 Colombian consanguineous families who had been previously described (Ramoz et al., 1999; Ramoz et al., 2000) and an additional EV1-linked Algerian family in which an individual was affected with HPV5. The EV1 locus (605828) had been mapped to a 1- ... More on the omim web site
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 226400 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).