KRT81
entrez
3887
canonical
uniprot
Q14533
canonical
ensembl
ENSG00000205426
resolver
ensp
ENSP00000369349
resolver
enst
ENST00000327741
resolver
genesymbol
KRT81
resolver
genesymbol_syn
KRTHB1
resolver
genesymbol_syn
MLN137
resolver
hgnc
HGNC:6458
resolver
uniprot
Q14846
resolver
uniprot
Q16274
resolver
uniprot
Q17R48
resolver
uniprot
Q8WU52
resolver
uniprot
Q9BR74
resolver
uniprot_entry
KRT81_HUMAN
resolver
uniprot_sec
Q14846
resolver
uniprot_sec
Q16274
resolver
uniprot_sec
Q17R48
resolver
uniprot_sec
Q8WU52
resolver
uniprot_sec
Q9BR74
resolver
amino_acid_sequence
MTCGSGFGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEILILQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGIGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNVAVSTGLCAPCGQLNTTCGGGSCGVGSCGISSLGVGSCGSSCRKC
uniprot
proteins
disease_involvement
DISEASE: Monilethrix 2 (MNLIX2) [MIM:621169]: 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:10504448, ECO:0000269|PubMed:25557232, ECO:0000269|PubMed:9402962, ECO:0000269|PubMed:9665406}. 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:10504448, PubMed:9402962). 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:10504448, PubMed:9402962). {ECO:0000269|PubMed:10504448, ECO:0000269|PubMed:9402962}.
uniprot
proteins
mass_dalton
54928
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10504448
uniprot
proteins
pubmed
11445569
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
25557232
uniprot
proteins
pubmed
7490069
uniprot
proteins
pubmed
7528047
uniprot
proteins
pubmed
7556444
uniprot
proteins
pubmed
9402962
uniprot
proteins
pubmed
9457912
uniprot
proteins
pubmed
9665406
uniprot
proteins
sequence_length
505
uniprot
proteins