KRT6B
entrez
3854
canonical
uniprot
P04259
canonical
ensembl
ENSG00000185479
resolver
ensp
ENSP00000252252
resolver
enst
ENST00000252252
resolver
genesymbol
KRT6B
resolver
genesymbol_syn
K6B
resolver
genesymbol_syn
KRTL1
resolver
hgnc
HGNC:6444
resolver
uniprot
P48669
resolver
uniprot_entry
K2C6B_HUMAN
resolver
uniprot_sec
P48669
resolver
amino_acid_sequence
MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSISVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPAIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDNIVGERGRLDSELRNMQDLVEDLKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKYEELQITAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEGVGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRATGGGLSSVGGGSSTIKYTTTSSSSRKSYKH
uniprot
proteins
disease_involvement
DISEASE: Pachyonychia congenita 4 (PC4) [MIM:615728]: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. {ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:21326300, ECO:0000269|PubMed:9618173}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins KRT16 and KRT17, assembling keratin intermediate filament networks that contribute to the structural integrity and stress resilience of stratified epithelia and appendages (PubMed:9618173). Induced during epidermal stress and wound repair, where it regulates keratinocyte migration and epithelial regeneration (By similarity). Negatively regulates collective keratinocyte migration by stabilizing non-muscle myosin MYH9 and desmoplakin, thereby altering cell-cell and cell-matrix adhesion and reducing the speed and directionality of epithelial sheet movement during wound repair (By similarity). Required for normal plantar and nail unit integrity (PubMed:9618173). {ECO:0000250|UniProtKB:P50446, ECO:0000269|PubMed:9618173}.
uniprot
proteins
mass_dalton
60067
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
1286667
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16250206
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
21326300
uniprot
proteins
pubmed
2410904
uniprot
proteins
pubmed
7543104
uniprot
proteins
pubmed
9618173
uniprot
proteins
sequence_length
564
uniprot
proteins