K1C14_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
KRT14
Protein names and data:
K1C14_HUMAN
, Keratin, type I cytoskeletal 14
, Cytokeratin-14; CK-14; Keratin-14; K14
Lenght: 472 a.a.
Mass: 51561 Da
fasta formatted sequence
Function:
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.
Disease:
( OMIM:
125595
131760
131800
131900
148066
161000
601001
)
Epidermolysis bullosa simplex, Dowling-Meara type (DM- EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, Weber-Cockayne type (WC- EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. Note=The disease is caused by mutations affecting the gene represented in this entry. Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. Note=The disease is caused by mutations affecting the gene represented in this entry. Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern.
Tissue specificity:
Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen.
Genetic variants
63 - 63
C -> Y (in dbSNP:rs6503640). VAR_055347
6503640
94 - 94
A -> T (in dbSNP:rs3826550). VAR_010437
3826550
116 - 116
K -> N (in WC-EBS; dbSNP:rs59271739). VAR_010438
59271739
119 - 119
M -> I (in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity; dbSNP:rs57358989). VAR_010439
57358989
119 - 119
M -> T (in DM-EBS; dbSNP:rs28928893). VAR_010440
28928893
119 - 119
M -> V (in K-EBS and WC-EBS; dbSNP:rs61263401). VAR_023719
61263401
120 - 120
Q -> R (in DM-EBS; dbSNP:rs60993843). VAR_010441
60993843
122 - 122
L -> F (in DM-EBS and K-EBS; dbSNP:rs59110575). VAR_010442
59110575
123 - 123
N -> K (in DM-EBS; dbSNP:rs3826549). VAR_023720
3826549
123 - 123
N -> S (in DM-EBS; dbSNP:rs60171927). VAR_010443
60171927
125 - 125
R -> C (in DM-EBS; dbSNP:rs60399023). VAR_003837
60399023
125 - 125
R -> G (in DM-EBS). VAR_023721
125 - 125
R -> H (in DM-EBS; dbSNP:rs58330629). VAR_003838
58330629
125 - 125
R -> S (in DM-EBS). VAR_010444
128 - 128
Missing (in DM-EBS). VAR_031634
129 - 129
Y -> D (in DM-EBS; dbSNP:rs60470268). VAR_010445
60470268
130 - 130
L -> P (in DM-EBS; dbSNP:rs57522245). VAR_023722
57522245
133 - 133
V -> A (in dbSNP:rs642601). VAR_033496
642601
133 - 133
V -> L (in WC-EBS and K-EBS; dbSNP:rs61027685). VAR_023723
61027685
134 - 134
R -> P (in K-EBS; dbSNP:rs61540016). VAR_031635
61540016
143 - 143
L -> P (in K-EBS; dbSNP:rs61326242). VAR_010446
61326242
144 - 144
E -> A (in EBSB1; dbSNP:rs57121345). VAR_003839
57121345
148 - 148
R -> C (in WC-EBS; dbSNP:rs58378809). VAR_031636
58378809
211 - 211
R -> P (in WC-EBS; dbSNP:rs60589227). VAR_027718
60589227
215 - 215
E -> K (in dbSNP:rs11551755). VAR_049784
11551755
247 - 247
A -> D (in K-EBS). VAR_010447
270 - 270
V -> M (in WC-EBS; dbSNP:rs58560979). VAR_003840
58560979
272 - 272
M -> R (in K-EBS; dbSNP:rs61371557). VAR_003841
61371557
272 - 272
M -> T (in K-EBS). VAR_027719
273 - 273
D -> G (in WC-EBS; dbSNP:rs59375065). VAR_010448
59375065
274 - 274
A -> D (in WC-EBS; dbSNP:rs58785777). VAR_010449
58785777
375 - 375
Missing (in WC-EBS). VAR_003842
377 - 377
I -> N (in WC-EBS; dbSNP:rs61536893). VAR_010450
61536893
384 - 384
L -> P (in K-EBS; dbSNP:rs59629244). VAR_003843
59629244
388 - 388
R -> C (in WC-EBS; dbSNP:rs59966597). VAR_010451
59966597
388 - 388
R -> H (in WC-EBS; dbSNP:rs58645163). VAR_031637
58645163
408 - 408
L -> M (in WC-EBS; dbSNP:rs57200223). VAR_023724
57200223
411 - 411
Missing (in WC-EBS). VAR_027720
413 - 413
A -> T (in K-EBS; dbSNP:rs59780231). VAR_023725
59780231
415 - 415
Y -> C (in WC-EBS). VAR_031638
415 - 415
Y -> H (in K-EBS). VAR_003844
416 - 416
R -> P (in DM-EBS). VAR_031639
417 - 417
R -> P (in DM-EBS). VAR_027721
419 - 419
L -> Q (in DM-EBS). VAR_003845
422 - 422
E -> K (in WC-EBS). VAR_010452
Database cross-references
UniProt:
P02533
Ensembl:
ENST00000167586
MIM:
125595
MIM:
131760
MIM:
131800
MIM:
131900
MIM:
148066
MIM:
161000
MIM:
601001
neXtProt:
NX_P02533
Antibodypedia:
P02533
(may not find the protein thus also not any antibody)
Local full text data:
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