KRT71
entrez
112802
canonical
uniprot
Q3SY84
canonical
ensembl
ENSG00000139648
resolver
ensp
ENSP00000267119
resolver
enst
ENST00000267119
resolver
genesymbol
KRT71
resolver
genesymbol_syn
K6IRS1
resolver
genesymbol_syn
KB34
resolver
genesymbol_syn
KRT6IRS1
resolver
hgnc
HGNC:28927
resolver
uniprot
B3KVC1
resolver
uniprot
Q3SY85
resolver
uniprot
Q96DU2
resolver
uniprot_entry
K2C71_HUMAN
resolver
uniprot_sec
B3KVC1
resolver
uniprot_sec
Q3SY85
resolver
uniprot_sec
Q96DU2
resolver
amino_acid_sequence
MSRQFTCKSGAAAKGGFSGCSAVLSGGSSSSFRAGSKGLSGGFGSRSLYSLGGVRSLNVASGSGKSGGYGFGRGRASGFAGSMFGSVALGPVCPTVCPPGGIHQVTVNESLLAPLNVELDPEIQKVRAQEREQIKALNNKFASFIDKVRFLEQQNQVLETKWELLQQLDLNNCKNNLEPILEGYISNLRKQLETLSGDRVRLDSELRNVRDVVEDYKKRYEEEINKRTAAENEFVLLKKDVDAAYANKVELQAKVESMDQEIKFFRCLFEAEITQIQSHISDMSVILSMDNNRNLDLDSIIDEVRTQYEEIALKSKAEAEALYQTKFQELQLAAGRHGDDLKNTKNEISELTRLIQRIRSEIENVKKQASNLETAIADAEQRGDNALKDARAKLDELEGALHQAKEELARMLREYQELMSLKLALDMEIATYRKLLESEECRMSGEFPSPVSISIISSTSGGSVYGFRPSMVSGGYVANSSNCISGVCSVRGGEGRSRGSANDYKDTLGKGSSLSAPSKKTSR
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 13 (HYPT13) [MIM:615896]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair. {ECO:0000269|PubMed:22592156}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle. {ECO:0000269|PubMed:22592156}.
uniprot
proteins
mass_dalton
57292
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
11982755
uniprot
proteins
pubmed
12648212
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16874310
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22592156
uniprot
proteins
sequence_length
523
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22592156}.
uniprot
proteins