KRT86
entrez
3892
canonical
uniprot
O43790
canonical
ensembl
ENSG00000170442
resolver
ensp
ENSP00000293525
resolver
ensp
ENSP00000444533
resolver
ensp
ENSP00000628101
resolver
enst
ENST00000293525
resolver
enst
ENST00000423955
resolver
enst
ENST00000958042
resolver
genesymbol
KRT86
resolver
genesymbol_syn
KRTHB6
resolver
hgnc
HGNC:6463
resolver
uniprot
A8K872
resolver
uniprot
P78387
resolver
uniprot_entry
A8K872_HUMAN
resolver
uniprot_entry
KRT86_HUMAN
resolver
uniprot_sec
P78387
resolver
amino_acid_sequence
MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRVLQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGSVNVCVSSSRGGVVCGDLCASTTAPVVSTRVSSVPSNSNVVVGTTNACAPSARVGVCGGSCKRC
uniprot
proteins
disease_involvement
DISEASE: Monilethrix 1 (MNLIX1) [MIM:158000]: 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:10469314, ECO:0000269|PubMed:10504448, ECO:0000269|PubMed:10594761, ECO:0000269|PubMed:15744029, ECO:0000269|PubMed:25557232, ECO:0000269|PubMed:9241275, ECO:0000269|PubMed:9402962, ECO:0000269|PubMed:9804356}. 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 shaft (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
53501
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10469314
uniprot
proteins
pubmed
10504448
uniprot
proteins
pubmed
10594761
uniprot
proteins
pubmed
11445569
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15744029
uniprot
proteins
pubmed
25557232
uniprot
proteins
pubmed
9084137
uniprot
proteins
pubmed
9241275
uniprot
proteins
pubmed
9402962
uniprot
proteins
pubmed
9457912
uniprot
proteins
pubmed
9804356
uniprot
proteins
sequence_length
486
uniprot
proteins