KRT83
entrez
3889
canonical
uniprot
P78385
canonical
ensembl
ENSG00000170523
resolver
ensp
ENSP00000293670
resolver
enst
ENST00000293670
resolver
genesymbol
KRT83
resolver
genesymbol_syn
KRTHB3
resolver
hgnc
HGNC:6460
resolver
uniprot
A1A4S9
resolver
uniprot
B2RC21
resolver
uniprot
Q6NT21
resolver
uniprot
Q9NSB3
resolver
uniprot_entry
KRT83_HUMAN
resolver
uniprot_sec
A1A4S9
resolver
uniprot_sec
B2RC21
resolver
uniprot_sec
Q6NT21
resolver
uniprot_sec
Q9NSB3
resolver
amino_acid_sequence
MTCGFNSIGCGFRPGNFSCVSACGPRPSRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFAGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRILQSHISDTSVVVKLDNSRDLNMDCIVAEIKAQYDDIATRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVEAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNLVVSTGLCKPCGQLNTTCGGGSCGQGRH
uniprot
proteins
disease_involvement
DISEASE: Erythrokeratodermia variabilis et progressiva 5 (EKVP5) [MIM:617756]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive. {ECO:0000269|PubMed:27965375}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Monilethrix 3 (MNLIX3) [MIM:621170]: A form of monilethrix, a disorder of the hair shaft characterized by brittle hair, follicular papules, and varying degrees of alopecia. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. Inheritance is autosomal dominant. {ECO:0000269|PubMed:15744029, ECO:0000269|PubMed:25557232}. 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 hair cortex (PubMed:15744029, PubMed:25557232). Forms obligate heterodimers with type I hair keratins, which assemble into keratin intermediate filaments that contribute to the structural integrity and mechanical strength of the hair shaft (PubMed:15744029, PubMed:25557232). {ECO:0000269|PubMed:15744029, ECO:0000269|PubMed:25557232}.
uniprot
proteins
mass_dalton
54195
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10692104
uniprot
proteins
pubmed
11445569
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15744029
uniprot
proteins
pubmed
25557232
uniprot
proteins
pubmed
27965375
uniprot
proteins
pubmed
9084137
uniprot
proteins
sequence_length
493
uniprot
proteins