Keratin, type I cytoskeletal 10 (KRT10)

The protein contains 584 amino acids for an estimated molecular weight of 58827 Da.

 

Plays a role in the establishment of the epidermal barrier on plantar skin.', '(Microbial infection) Acts as a mediator of S.aureus adherence to desquamated nasal epithelial cells via clfB, and hence may play a role in nasal colonization.', '(Microbial infection) Binds S.pneumoniae PsrP, mediating adherence of the bacteria to lung cell lines. Reduction of levels of KRT10 keratin decrease adherence, overexpression increases adherence. Neither protein has to be glycosylated for the interaction to occur. (updated: May 8, 2019)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. 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.
  3. Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
  4. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  5. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
  6. 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.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

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.

No sequence conservation computed yet.

Interpro domains
Total structural coverage: 49%
Model score: 22

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VariantDescription
dbSNP:rs4261597
dbSNP:rs77919366
EHK
EHK
EHK
EHK
EHK
EHK
EHK
EHK
EHK; severe phenotype
EHK
EHK
AEI
EHK
EHK
AEI
EHK
dbSNP:rs17855579

The reference OMIM entry for this protein is 113800

Epidermolytic hyperkeratosis; ehk
Bullous erythroderma ichthyosiformis congenita of brocq
Bullous congenital ichthyosiform erythroderma; bcie
Bullous ichthyosiform erythroderma; bie
Epidermolytic ichthyosis epidermolytic hyperkeratosis, late-

A number sign (#) is used with this entry because of evidence that epidermolytic hyperkeratosis (EHK) can be caused by heterozygous mutation in the keratin-1 gene (KRT1; 139350) and by heterozygous or homozygous mutation in the keratin-10 gene (KRT10; 148080).

DESCRIPTION

Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006). Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities. A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1.

CLINICAL FEATURES

Clinically, BCIE presents at birth or soon afterwards with widespread erythroderma, blistering, and scaling. Blistering tends to improve with age. Warty thickening of the flexural skin usually appears by the third or fourth year and persists into adult life. There is, in addition, hyperkeratosis of the palms and soles. Life expectancy is usually normal although the disease can be severely incapacitating. Death, often associated with severe infection, may occur in infancy (review by Eady et al., 1986). Heimendinger and Schnyder (1962) described this disorder in a man and 2 of his 3 children, a son and a daughter. Among 17 families with 2 or more affected persons, Gasser (1964) found only sibs affected in 2 families, 2 successive generations affected in 12, and 3 generations affected in 3. The variation in the height of the scale along normal skin markings in this disorder produces a ridgelike appearance, particularly in the bends of the elbows and knees, that has led to the designation 'porcupine man;' see 146600. The rate of new cell formation is abnormally high; keratinocytes traverse the epidermis from the basal layer to the stratum corneum in as little as 4 days, a journey that takes 2 weeks in normal skin. Several kindreds have been reported in which the first affected member, presumably a mosaic for the new mutation, had linear or patchy lesions and produced children with generalized bullous ichthyosiform erythroderma (Epstein, 1992). Epstein (1992) suggested that the 'porcupine man' may have had BCIE. - Autosomal Recessive Epidermolytic Hyperkeratosis Muller et al. (2006) reported a consanguineous family in which 2 of 4 sibs had EHK. Both affected sibs showed collodion skin and generalized erythroderma at birth, and in the months after birth, developed erosions after mild mechanical trauma and progressive ichthyosis. At the time of examination, the affected sibs exhibited generalized hyperkeratosis, which was pronounced over the large joints and the volar surfaces of the elbows and knees, with palmoplantar sparing. The 8-year-old boy showed conspicuous cobblestone morphology of the hyperkeratosis in his neck area, and his 6-year-old siste ... More on the omim web site

Subscribe to this protein entry history

May 11, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.

May 26, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 25, 2017: Additional information
No protein expression data in P. Mayeux work for KRT10

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 113800 was added.

Jan. 24, 2016: Protein entry updated
Automatic update: model status changed