KRT5
entrez
3852
canonical
uniprot
P13647
canonical
ensembl
ENSG00000186081
resolver
ensp
ENSP00000252242
resolver
enst
ENST00000252242
resolver
genesymbol
KRT5
resolver
hgnc
HGNC:6442
resolver
uniprot
Q6PI71
resolver
uniprot
Q6UBJ0
resolver
uniprot
Q8TA91
resolver
uniprot_entry
K2C5_HUMAN
resolver
uniprot_sec
Q6PI71
resolver
uniprot_sec
Q6UBJ0
resolver
uniprot_sec
Q8TA91
resolver
amino_acid_sequence
MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGYGSRSLYNLGGSKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGGAGFGGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVDAAYMNKVELEAKVDALMDEINFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIANRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQRGELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGVGLGGGLSVGGSGFSASSGRGLGVGFGSGGGSSSSVKFVSTTSSSRKSFKS
uniprot
proteins
disease_involvement
DISEASE: Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features. {ECO:0000269|PubMed:10730767, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:1372711, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:19691749, ECO:0000269|PubMed:20128788, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:8757772, ECO:0000269|PubMed:9036937, ECO:0000269|PubMed:9406827, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.23}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2B is an autosomal dominant form characterized by generalized blistering manifesting at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. {ECO:0000269|PubMed:11407988, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:17855059, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:23450297, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:7534039, ECO:0000269|PubMed:7686424, ECO:0000269|PubMed:9740251, ECO:0000269|PubMed:9989794}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. {ECO:0000269|PubMed:10782015, ECO:0000269|PubMed:11973334, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14723728, ECO:0000269|PubMed:15140024, ECO:0000269|PubMed:15347343, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:19220453, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:30240119, ECO:0000269|PubMed:7506097, ECO:0000269|PubMed:7520042, ECO:0000269|PubMed:7688477, ECO:0000269|PubMed:8595431, ECO:0000269|PubMed:8807337, ECO:0000269|PubMed:9804357}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2D is an autosomal recessive form characterized by widespread intraepidermal skin blistering and erosions from birth. Death may occur in the neonatal period. {ECO:0000269|PubMed:11973334, ECO:0000269|PubMed:22832485, ECO:0000269|PubMed:31302245}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex 2E, with migratory circinate erythema (EBS2E) [MIM:609352]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern. {ECO:0000269|PubMed:12925204}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex 2F, with mottled pigmentation (EBS2F) [MIM:131960]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. {ECO:0000269|PubMed:10494094, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:8799157}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269|PubMed:16465624, ECO:0000269|PubMed:21569119, ECO:0000269|PubMed:22437315}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in basal keratinocytes of stratified epithelia. Forms heteropolymers with type I partners including KRT14 and KRT15, contributing to the formation of the keratin intermediate filament network that provides mechanical stability and resilience to the basal layer of the epidermis (PubMed:1372711, PubMed:1694855). Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localization in keratinocytes (By similarity). {ECO:0000250|UniProtKB:Q922U2, ECO:0000269|PubMed:1372711, ECO:0000269|PubMed:1694855}.
uniprot
proteins
mass_dalton
62378
uniprot
proteins
mutagenesis
MUTAGEN 399; /note="E->A: Increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with short filaments."; /evidence="ECO:0000269|PubMed:31995743"; MUTAGEN 411; /note="Q->A: No effect on interaction with KRT14 or keratin intermediate filament networks."; /evidence="ECO:0000269|PubMed:31995743"; MUTAGEN 412; /note="N->A: No effect on interaction with KRT14 or keratin intermediate filament networks."; /evidence="ECO:0000269|PubMed:31995743"; MUTAGEN 422; /note="E->A: No effect on interaction with KRT14 or keratin intermediate filament networks."; /evidence="ECO:0000269|PubMed:31995743"; MUTAGEN 437; /note="E->A: No effect on interaction with KRT14 or keratin intermediate filament networks."; /evidence="ECO:0000269|PubMed:31995743"; MUTAGEN 440; /note="Q->A: No effect on interaction with KRT14 or keratin intermediate filament networks."; /evidence="ECO:0000269|PubMed:31995743"; MUTAGEN 444; /note="Q->A: No effect on interaction with KRT14 or keratin intermediate filament networks."; /evidence="ECO:0000269|PubMed:31995743
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by CDK1, AURKB and Rho-kinase, phosphorylation is regulated by the cell cycle (By similarity). Thr-24 phosphorylation, mediated by CDK1, peaks during prometaphase or metaphase cells with phosphorylated filamentous structures evident throughout the cytoplasm during early mitosis (By similarity). CDK1 phosphorylates Thr-24 in mitotic cells at the site of injury (By similarity). {ECO:0000250|UniProtKB:Q922U2}.; PTM: O-glycosylated. {ECO:0000250|UniProtKB:Q922U2}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10494094
uniprot
proteins
pubmed
10730767
uniprot
proteins
pubmed
10782015
uniprot
proteins
pubmed
10852826
uniprot
proteins
pubmed
10903910
uniprot
proteins
pubmed
11407988
uniprot
proteins
pubmed
11973334
uniprot
proteins
pubmed
12655565
uniprot
proteins
pubmed
12707098
uniprot
proteins
pubmed
12925204
uniprot
proteins
pubmed
1372711
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14723728
uniprot
proteins
pubmed
15140024
uniprot
proteins
pubmed
15347343
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15731013
uniprot
proteins
pubmed
16465624
uniprot
proteins
pubmed
16786515
uniprot
proteins
pubmed
16882168
uniprot
proteins
pubmed
1694855
uniprot
proteins
pubmed
17855059
uniprot
proteins
pubmed
19220453
uniprot
proteins
pubmed
19691749
uniprot
proteins
pubmed
20128788
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21375516
uniprot
proteins
pubmed
21569119
uniprot
proteins
pubmed
21623745
uniprot
proteins
pubmed
22437315
uniprot
proteins
pubmed
22705788
uniprot
proteins
pubmed
22832485
uniprot
proteins
pubmed
23450297
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2447486
uniprot
proteins
pubmed
2455002
uniprot
proteins
pubmed
2456903
uniprot
proteins
pubmed
2476664
uniprot
proteins
pubmed
24940650
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26432462
uniprot
proteins
pubmed
26758872
uniprot
proteins
pubmed
28899683
uniprot
proteins
pubmed
30240119
uniprot
proteins
pubmed
31302245
uniprot
proteins
pubmed
31995743
uniprot
proteins
pubmed
7506097
uniprot
proteins
pubmed
7520042
uniprot
proteins
pubmed
7534039
uniprot
proteins
pubmed
7684424
uniprot
proteins
pubmed
7686424
uniprot
proteins
pubmed
7688477
uniprot
proteins
pubmed
8595431
uniprot
proteins
pubmed
8757772
uniprot
proteins
pubmed
8799157
uniprot
proteins
pubmed
8807337
uniprot
proteins
pubmed
9036937
uniprot
proteins
pubmed
9406827
uniprot
proteins
pubmed
9740251
uniprot
proteins
pubmed
9804357
uniprot
proteins
pubmed
9989794
uniprot
proteins
sequence_length
590
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20128788}.
uniprot
proteins