KRT6A
entrez
3853
canonical
uniprot
P02538
canonical
ensembl
ENSG00000205420
resolver
ensp
ENSP00000369317
resolver
enst
ENST00000330722
resolver
genesymbol
KRT6A
resolver
genesymbol_syn
K6A
resolver
genesymbol_syn
KRT6D
resolver
hgnc
HGNC:6443
resolver
uniprot
A0A0S2Z428
resolver
uniprot
A4QPC1
resolver
uniprot
P48667
resolver
uniprot
Q08AR4
resolver
uniprot
Q6NT67
resolver
uniprot
Q96CL4
resolver
uniprot_entry
A0A0S2Z428_HUMAN
resolver
uniprot_entry
K2C6A_HUMAN
resolver
uniprot_sec
A4QPC1
resolver
uniprot_sec
P48667
resolver
uniprot_sec
Q08AR4
resolver
uniprot_sec
Q6NT67
resolver
uniprot_sec
Q96CL4
resolver
amino_acid_sequence
MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAISGGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRGMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKKQCANLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATYRKLLEGEECRLNGEGVGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRKSYKH
uniprot
proteins
disease_involvement
DISEASE: Pachyonychia congenita 3 (PC3) [MIM:615726]: 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:10232400, ECO:0000269|PubMed:11886499, ECO:0000269|PubMed:15387942, ECO:0000269|PubMed:15840119, ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:17309457, ECO:0000269|PubMed:17719747, ECO:0000269|PubMed:18489596, ECO:0000269|PubMed:19416275, ECO:0000269|PubMed:21326300, ECO:0000269|PubMed:22668561, ECO:0000269|PubMed:7545493}. 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 into keratin intermediate filament networks that contribute to the structural integrity and stress resilience of stratified epithelia, particularly in epidermis, nail bed and oral mucosa (PubMed:11886499, PubMed:17719747, PubMed:7545493). Rapidly induced in wound-edge keratinocytes and participates in cytoskeletal reorganization during re-epithelialization (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). Also limits epithelial migration by inhibiting SRC activity during wound repair (By similarity). Required for normal plantar and nail unit integrity (PubMed:11886499, PubMed:17719747, PubMed:7545493). {ECO:0000250|UniProtKB:P50446, ECO:0000269|PubMed:11886499, ECO:0000269|PubMed:17719747, ECO:0000269|PubMed:7545493}.
uniprot
proteins
mass_dalton
60045
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10232400
uniprot
proteins
pubmed
11886499
uniprot
proteins
pubmed
15387942
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15731013
uniprot
proteins
pubmed
15840119
uniprot
proteins
pubmed
16250206
uniprot
proteins
pubmed
17309457
uniprot
proteins
pubmed
17719747
uniprot
proteins
pubmed
18489596
uniprot
proteins
pubmed
19416275
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21326300
uniprot
proteins
pubmed
22668561
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26758872
uniprot
proteins
pubmed
6191871
uniprot
proteins
pubmed
7543104
uniprot
proteins
pubmed
7545493
uniprot
proteins
sequence_length
564
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P50446}.
uniprot
proteins