KRT9
entrez
3857
canonical
uniprot
P35527
canonical
ensembl
ENSG00000171403
resolver
ensp
ENSP00000246662
resolver
enst
ENST00000246662
resolver
genesymbol
KRT9
resolver
hgnc
HGNC:6447
resolver
uniprot
O00109
resolver
uniprot
Q0IJ47
resolver
uniprot
Q14665
resolver
uniprot_entry
K1C9_HUMAN
resolver
uniprot_sec
O00109
resolver
uniprot_sec
Q0IJ47
resolver
uniprot_sec
Q14665
resolver
amino_acid_sequence
MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGGRFSSSSGYGGGSSRVCGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGGYSSSGGFGGGFGGGSGGGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQELNSRLASYLDKVQALEEANNDLENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDLTVGNNKTLLDIDNTRMTLDDFRIKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYETLQEELMALKKNHKEEMSQLTGQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKDIENQYETQITQIEHEVSSSGQEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLEDTKNRYCGQLQMIQEQISNLEAQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLLEGGQEDFESSGAGKIGLGGRGGSGGSYGRGSRGGSGGSYGGGGSGGGYGGGSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGGGHSGGSGGGHSGGSGGNYGGGSGSGGGSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSYGGGEEASGSGGGYGGGSGKSSHS
uniprot
proteins
disease_involvement
DISEASE: Palmoplantar keratoderma, epidermolytic, 1 (EPPK1) [MIM:144200]: 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. EPPK1 inheritance is autosomal dominant. {ECO:0000269|PubMed:10632938, ECO:0000269|PubMed:10844507, ECO:0000269|PubMed:12072061, ECO:0000269|PubMed:12192490, ECO:0000269|PubMed:12838553, ECO:0000269|PubMed:12926810, ECO:0000269|PubMed:14675368, ECO:0000269|PubMed:15099359, ECO:0000269|PubMed:15115518, ECO:0000269|PubMed:15605275, ECO:0000269|PubMed:16911293, ECO:0000269|PubMed:16961539, ECO:0000269|PubMed:19874353, ECO:0000269|PubMed:20964665, ECO:0000269|PubMed:21715251, ECO:0000269|PubMed:7511021, ECO:0000269|PubMed:7512862, ECO:0000269|PubMed:7516304, ECO:0000269|PubMed:7523529, ECO:0000269|PubMed:7532199, ECO:0000269|PubMed:8647270, ECO:0000269|PubMed:9204965, ECO:0000269|PubMed:9856842}. 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 palmoplantar epidermis. Forms heteropolymers with a type II keratin, assembling into keratin intermediate filament networks that maintain the mechanical integrity of the palmoplantar epidermis. {ECO:0000269|PubMed:10218578, ECO:0000269|PubMed:7507869, ECO:0000269|PubMed:7512862}.
uniprot
proteins
mass_dalton
62064
uniprot
proteins
mutagenesis
MUTAGEN 163; /note="R->QHA: Leads to aggregate formation."; /evidence="ECO:0000269|PubMed:10218578
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10201533
uniprot
proteins
pubmed
10218578
uniprot
proteins
pubmed
10632938
uniprot
proteins
pubmed
10844507
uniprot
proteins
pubmed
12072061
uniprot
proteins
pubmed
12192490
uniprot
proteins
pubmed
12838553
uniprot
proteins
pubmed
12926810
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14675368
uniprot
proteins
pubmed
15099359
uniprot
proteins
pubmed
15115518
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15605275
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16911293
uniprot
proteins
pubmed
16961539
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19874353
uniprot
proteins
pubmed
20964665
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2140676
uniprot
proteins
pubmed
21715251
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
7507869
uniprot
proteins
pubmed
7511021
uniprot
proteins
pubmed
7512862
uniprot
proteins
pubmed
7516304
uniprot
proteins
pubmed
7523529
uniprot
proteins
pubmed
7532199
uniprot
proteins
pubmed
8647270
uniprot
proteins
pubmed
9204965
uniprot
proteins
pubmed
9856842
uniprot
proteins
sequence_length
623
uniprot
proteins