KRT1
entrez
3848
canonical
uniprot
P04264
canonical
ensembl
ENSG00000167768
resolver
ensp
ENSP00000252244
resolver
enst
ENST00000252244
resolver
genesymbol
KRT1
resolver
genesymbol_syn
KRTA
resolver
hgnc
HGNC:6412
resolver
uniprot
B2RA01
resolver
uniprot
P85925
resolver
uniprot
P86104
resolver
uniprot
Q14720
resolver
uniprot
Q6GSJ0
resolver
uniprot
Q9H298
resolver
uniprot_entry
K2C1_HUMAN
resolver
uniprot_sec
B2RA01
resolver
uniprot_sec
P85925
resolver
uniprot_sec
P86104
resolver
uniprot_sec
Q14720
resolver
uniprot_sec
Q6GSJ0
resolver
uniprot_sec
Q9H298
resolver
amino_acid_sequence
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVDLQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSGGRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR
uniprot
proteins
disease_involvement
DISEASE: Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800]: A 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. EHK1 inheritance is autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:10232403, ECO:0000269|PubMed:10688370, ECO:0000269|PubMed:10844506, ECO:0000269|PubMed:11531804, ECO:0000269|PubMed:12406348, ECO:0000269|PubMed:1380725, ECO:0000269|PubMed:1381288, ECO:0000269|PubMed:21271994, ECO:0000269|PubMed:7507151, ECO:0000269|PubMed:7507152, ECO:0000269|PubMed:7512983, ECO:0000269|PubMed:9856846}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ichthyosis hystrix, Curth-Macklin type (IHCM) [MIM:146590]: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. {ECO:0000269|PubMed:11286616}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962]: A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. {ECO:0000269|PubMed:7528239}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ichthyosis, annular epidermolytic, 2 (AEI2) [MIM:620148]: A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. {ECO:0000269|PubMed:10053007, ECO:0000269|PubMed:10597140}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Keratoderma, palmoplantar, striate 3 (SPPK3) [MIM:607654]: A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. {ECO:0000269|PubMed:11982762}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Palmoplantar keratoderma, epidermolytic, 2 (EPPK2) [MIM:620411]: A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood. {ECO:0000269|PubMed:11286630, ECO:0000269|PubMed:37122192}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in suprabasal keratinocytes of stratified epithelia. Forms heteropolymers with a type I keratin, assembling into keratin intermediate filament networks that provide mechanical strength and structural stability to differentiating epidermal cells (PubMed:1381288). May regulate the activity of kinases such as PKC and SRC by interacting with integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1) (PubMed:17956333, PubMed:21544310). In complex with C1QBP, acts as a high-affinity receptor for kininogen-1 (HMWK) (PubMed:21544310). {ECO:0000269|PubMed:1381288, ECO:0000269|PubMed:17956333, ECO:0000269|PubMed:21544310}.
uniprot
proteins
mass_dalton
66039
uniprot
proteins
post_translational_modification
PTM: Undergoes deimination of some arginine residues (citrullination). {ECO:0000269|PubMed:11841545, ECO:0000269|PubMed:8780679}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10053007
uniprot
proteins
pubmed
10232403
uniprot
proteins
pubmed
10597140
uniprot
proteins
pubmed
10688370
uniprot
proteins
pubmed
10844506
uniprot
proteins
pubmed
10903910
uniprot
proteins
pubmed
11286616
uniprot
proteins
pubmed
11286630
uniprot
proteins
pubmed
11531804
uniprot
proteins
pubmed
11841545
uniprot
proteins
pubmed
11982762
uniprot
proteins
pubmed
12406346
uniprot
proteins
pubmed
12406348
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
1281859
uniprot
proteins
pubmed
1380725
uniprot
proteins
pubmed
1381288
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16529377
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16923132
uniprot
proteins
pubmed
17956333
uniprot
proteins
pubmed
18602030
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19412582
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21271994
uniprot
proteins
pubmed
21544310
uniprot
proteins
pubmed
23895828
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24940650
uniprot
proteins
pubmed
2580302
uniprot
proteins
pubmed
2581964
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27595935
uniprot
proteins
pubmed
32179842
uniprot
proteins
pubmed
37122192
uniprot
proteins
pubmed
7507151
uniprot
proteins
pubmed
7507152
uniprot
proteins
pubmed
7512983
uniprot
proteins
pubmed
7528239
uniprot
proteins
pubmed
8780679
uniprot
proteins
pubmed
9856846
uniprot
proteins
sequence_length
644
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17956333}. Cytoplasm {ECO:0000269|PubMed:32179842}.
uniprot
proteins