KRT25
entrez
147183
canonical
uniprot
Q7Z3Z0
canonical
ensembl
ENSG00000204897
resolver
ensp
ENSP00000310573
resolver
enst
ENST00000312150
resolver
genesymbol
KRT25
resolver
genesymbol_syn
KRT25A
resolver
hgnc
HGNC:30839
resolver
uniprot
Q6ZPD6
resolver
uniprot_entry
K1C25_HUMAN
resolver
uniprot_entry
Q6ZPD6_HUMAN
resolver
amino_acid_sequence
MSLRLSSASRRSCPRPTTGSLRLYGGGTSFGTGNSCGISGIGSGFSSAFGGSSSGGNTGGGNPCAGFTVNERGLLSGNEKVTMQNLNDRLASYLDSVHALEEANADLEQKIKGWYEKFGPGSCRGLDHDYSRYFPIIDDLKNQIIASTTSNANAVLQIDNARLTADDFRLKYENELALHQSVEADVNGLRRVLDEITLCRTDLEIQYETLSEEMTYLKKNHKEEMQVLQCAAGGNVNVEMNAAPGVDLTVLLNNMRAEYEALAEQNRRDAEAWFNEKSASLQQQISEDVGATTSARNELTEMKRTLQTLEIELQSLLATKHSLECSLTETESNYCAQLAQIQAQIGALEEQLHQVRTETEGQKLEYEQLLDIKLHLEKEIETYCLLIGGDDGACKSGGYKSKDYGSGNVGSQVKDPAKAIVVKKVLEEVDQRSKILTTRLHSLEEKSQSN
uniprot
proteins
disease_involvement
DISEASE: Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. {ECO:0000269|PubMed:26160856, ECO:0000269|PubMed:26902920, ECO:0000269|PubMed:28899683}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920). {ECO:0000250|UniProtKB:Q8VCW2, ECO:0000269|PubMed:26902920}.
uniprot
proteins
mass_dalton
49318
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
15617563
uniprot
proteins
pubmed
16874310
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
26160856
uniprot
proteins
pubmed
26902920
uniprot
proteins
pubmed
28899683
uniprot
proteins
sequence_length
450
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VCW2}.
uniprot
proteins