KRT3
entrez
3850
canonical
uniprot
P12035
canonical
ensembl
ENSG00000186442
resolver
ensp
ENSP00000413479
resolver
enst
ENST00000417996
resolver
genesymbol
KRT3
resolver
hgnc
HGNC:6440
resolver
uniprot
A6NIS2
resolver
uniprot
Q701L8
resolver
uniprot_entry
K2C3_HUMAN
resolver
uniprot_sec
A6NIS2
resolver
uniprot_sec
Q701L8
resolver
amino_acid_sequence
MSRQASKTSGGGSQGFSGRSAVVSGSSRMSCVAHSGGAGGGAYGFRSGAGGFGSRSLYNLGGNKSISISVAAGGSRAGGFGGGRSSCAFAGGYGGGFGSGYGGGFGGGFGGGRGMGGGFGGAGGFGGAGGFGGAGGFGGPGGFGGSGGFGGPGSLGSPGGFGPGGFPGGIQEVTINQSLLQPLNVEIDPQIGQVKAQEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWNLLQQQGTSSISGTNNLEPLFENHINYLRSYLDNILGERGRLDSELKNMEDLVEDFKKKYEDEINKRTAAENEFVTLKKDVDSAYMNKVELQAKVDALIDEIDFLRTLYDAELSQMQSHISDTSVVLSMDNNRSLDLDSIIAEVRAQYEDIAQRSKAEAEALYQTKLGELQTTAGRHGDDLRNTKSEIIELNRMIQRLRAEIEGVKKQNANLQTAIAEAEQHGEMALKDANAKLQELQAALQQAKDDLARLLRDYQELMNVKLALDVEIATYRKLLEGEEYRMSGECPSAVSISVVSSSTTSASAGGYGGGYGGGMGGGLGGGFSAGGGSGSGFGRGGGGGIGGGFGGGSSGFSGGSGFGSISGARYGVSGGGFSSASNRGGSIKFSQSSQSSQRYSR
uniprot
proteins
disease_involvement
DISEASE: Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767]: A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant. {ECO:0000269|PubMed:16227835, ECO:0000269|PubMed:9171831}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of intermediate filaments in the corneal epithelium. Forms heteropolymers with the type I keratin KRT12, assembling into keratin intermediate filament networks that provide mechanical strength and structural integrity to the corneal epithelial layer. {ECO:0000269|PubMed:9171831}.
uniprot
proteins
mass_dalton
64417
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
15737194
uniprot
proteins
pubmed
16227835
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
2439698
uniprot
proteins
pubmed
8759347
uniprot
proteins
pubmed
9171831
uniprot
proteins
sequence_length
628
uniprot
proteins