Keratin, type I cytoskeletal 14 (KRT14)
The protein contains 472 amino acids for an estimated molecular weight of 51561 Da.
The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
- 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.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
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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Biological Process
Aging
Cornification
Epidermis development
Hair cycle
Hemidesmosome assembly
Intermediate filament bundle assembly
Keratinization
Response to ionizing radiation
Response to zinc ion
The reference OMIM entry for this protein is 125595
Dermatopathia pigmentosa reticularis; dpr
A number sign (#) is used with this entry because of evidence that dermatopathia pigmentosa reticularis (DPR), like Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000), is caused by mutations in the keratin-14 gene (KRT14; 148066).
CLINICAL FEATURES
Dermatopathia pigmentosa reticularis (DPR) is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Heimer et al. (1992) described a family with 9 cases distributed through 6 sibships of 4 generations. The diagnosis was confirmed by the authors in the 30-year-old proband and her son and daughter. In addition to the triad, the proposita had adermatoglyphia, hypohidrosis, and punctate hyperkeratosis of the palms and soles. The family contained no instance of male-to-male transmission. Heimer et al. (1992) presented a figure demonstrating the lack of fingerprint patterns. Dermatopathia pigmentosa reticularis is closely related to another autosomal dominant ectodermal dysplasia syndrome, Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) (Lugassy et al., 2006). Among the most distinctive characteristics of these syndromes is the complete absence of dermatoglyphics. Other shared features include a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. DPR has been distinguished from NFJS by lifelong persistence of the skin hyperpigmentation, partial alopecia, and absence of dental anomalies (Heimer et al., 1992).MAPPING
Both dermatopathia pigmentosa reticularis and Naegeli-Franceschetti-Jadassohn syndrome map to a common 6-cM interval on 17q11.2-q21 (Whittock et al., 2000; Sprecher et al., 2002), supporting the suggestion that NFJS and DPR are allelic disorders (Itin and Lautenschlager, 1998). Lugassy et al. (2006) refined the location of the NFJS/DPR locus on 17q11.2-q21, with demonstration of a maximal lod score of 8.3 at marker D17S800 at a recombination fraction of 0.0.MOLECULAR GENETICS
Lugassy et al. (2006) found that the NFJS/DPR locus harbored 230 genes, including a large cluster of keratin genes. They found heterozygous nonsense or frameshift mutations in the KRT14 gene (148066) that segregated with the disease traits in all 5 families, 4 with NFJS and the 1 previously reported as DPR by Heimer et al. (1992). ... 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 125595 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).