K1C10_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
KRT10
, KPP
Protein names and data:
K1C10_HUMAN
, Keratin, type I cytoskeletal 10
, Cytokeratin-10; CK-10; Keratin-10; K10
Lenght: 584 a.a.
Mass: 58827 Da
fasta formatted sequence
Disease:
( OMIM:
113800
148080
607602
609165
)
Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. Note=The disease is caused by mutations affecting the gene represented in this entry. Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. Note=The disease is caused by mutations affecting the gene represented in this entry. Erythroderma, ichthyosiform, congenital reticular (CRIE) [MIM:609165]: A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Seen in all suprabasal cell layers including stratum corneum.
Genetic variants
A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560).
101 - 101
I -> S (in dbSNP:rs4261597). VAR_058202
4261597
126 - 126
G -> S (in dbSNP:rs77919366). VAR_010505
77919366
150 - 150
M -> R (in EHK; dbSNP:rs58901407). VAR_010506
58901407
150 - 150
M -> T (in a patient with epidermal nevi hyperkeratotic type due to genetic mosaicism). VAR_010507
154 - 154
N -> H (in EHK; dbSNP:rs57784225). VAR_003826
57784225
156 - 156
R -> C (in EHK). VAR_003828
156 - 156
R -> H (in EHK; dbSNP:rs58075662). VAR_003827
58075662
156 - 156
R -> P (in EHK). VAR_003829
156 - 156
R -> S (in EHK; dbSNP:rs58852768). VAR_003830
58852768
160 - 160
Y -> D (in EHK; severe phenotype; dbSNP:rs58414354). VAR_003831
58414354
160 - 160
Y -> N (in EHK; severe phenotype). VAR_010508
160 - 160
Y -> S (in EHK; severe phenotype; dbSNP:rs58735429). VAR_010509
58735429
161 - 161
L -> S (in EHK; dbSNP:rs60118264). VAR_003832
60118264
422 - 422
R -> E (in AEI; requires 2 nucleotide substitutions; dbSNP:rs59075499). VAR_033145
59075499
439 - 439
K -> E (in EHK; mild phenotype; dbSNP:rs61434181). VAR_010510
61434181
442 - 442
L -> Q (in EHK; dbSNP:rs58026994). VAR_003833
58026994
446 - 446
I -> T (in AEI). VAR_010511
487 - 487
H -> Y (in dbSNP:rs17855579). VAR_060723
17855579
Database cross-references
UniProt:
P13645
Ensembl:
ENST00000269576
MIM:
113800
MIM:
148080
MIM:
607602
MIM:
609165
neXtProt:
NX_P13645
Antibodypedia:
P13645
(may not find the protein thus also not any antibody)
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