Keratin, type II cytoskeletal 75 (KRT75)
The protein contains 551 amino acids for an estimated molecular weight of 59560 Da.
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle. (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
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.
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No binding partner found
The reference OMIM entry for this protein is 600628
Loose anagen hair syndrome
CLINICAL FEATURES
Anagen phase hair is actively growing hair. In the loose anagen hair syndrome, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color (Price and Gummer, 1989) and hair shafts of reduced caliber (Lalevic-Vasic et al., 1990), and an early age of onset (Hamm and Traupe, 1989) are features. Usually the hairs are not fragile and there are no areas of breakage. Slight flattening and longitudinal grooving has been noted on electron microscopy (Hamm and Traupe, 1989). Murphy et al. (1995) described a sister and brother with the loose anagen hair syndrome in association with ocular coloboma (see 120200, 216820) which was bilateral in the brother and unilateral in the sister. Murphy et al. (1995) concluded that these were independent genetic traits.INHERITANCE
Baden et al. (1992) postulated autosomal dominant inheritance with variable expressivity and noted at least 1 instance of male-to-male transmission. ... More on the omim web site
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 600628 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).