KRT74
entrez
121391
canonical
uniprot
Q7RTS7
canonical
ensembl
ENSG00000170484
resolver
ensp
ENSP00000307240
resolver
enst
ENST00000305620
resolver
genesymbol
KRT74
resolver
genesymbol_syn
K6IRS4
resolver
genesymbol_syn
KB37
resolver
genesymbol_syn
KRT5C
resolver
genesymbol_syn
KRT6IRS4
resolver
hgnc
HGNC:28929
resolver
uniprot
B5MD61
resolver
uniprot
Q86Y45
resolver
uniprot_entry
K2C74_HUMAN
resolver
uniprot_sec
B5MD61
resolver
uniprot_sec
Q86Y45
resolver
amino_acid_sequence
MSRQLNIKSSGDKGNFSVHSAVVPRKAVGSLASYCAAGRGAGAGFGSRSLYSLGGNRRISFNVAGGGVRAGGYGFRPGSGYGGGRASGFAGSMFGSVALGPACLSVCPPGGIHQVTVNKSLLAPLNVELDPEIQKVRAQEREQIKVLNDKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKKNLEPILEGYISNLRKQLETLSGDRVRLDSELRSMRDLVEDYKKRYEVEINRRTTAENEFVVLKKDADAAYAVKVELQAKVDSLDKEIKFLKCLYDAEIAQIQTHASETSVILSMDNNRDLDLDSIIAEVRMHYEEIALKSKAEAEALYQTKIQELQLAASRHGDDLKHTRSEMVELNRLIQRIRCEIGNVKKQRASLETAIADAEQRGDNALKDAQAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLEGEECRMSGENPSSVSISVISSSSYSYHHPSSAGVDLGASAVAGSSGSTQSGQTKTTEARGGDLKDTQGKSTPASIPARKATR
uniprot
proteins
disease_involvement
DISEASE: Woolly hair autosomal dominant (ADWH) [MIM:194300]: 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. {ECO:0000269|PubMed:20346438}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypotrichosis 3 (HYPT3) [MIM:613981]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT3 inheritance is autosomal dominant. {ECO:0000269|PubMed:21188418}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. {ECO:0000269|PubMed:24714551}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). {ECO:0000305}.
uniprot
proteins
mass_dalton
57865
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
11683385
uniprot
proteins
pubmed
12648212
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16874310
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20346438
uniprot
proteins
pubmed
21188418
uniprot
proteins
pubmed
24714551
uniprot
proteins
sequence_length
529
uniprot
proteins