KRT85
entrez
3891
canonical
uniprot
P78386
canonical
ensembl
ENSG00000135443
resolver
ensp
ENSP00000257901
resolver
ensp
ENSP00000440240
resolver
enst
ENST00000257901
resolver
enst
ENST00000544265
resolver
genesymbol
KRT85
resolver
genesymbol_syn
KRTHB5
resolver
hgnc
HGNC:6462
resolver
uniprot
B7Z7N3
resolver
uniprot
F5GYI5
resolver
uniprot
Q9NSB1
resolver
uniprot_entry
B7Z7N3_HUMAN
resolver
uniprot_entry
F5GYI5_HUMAN
resolver
uniprot_entry
KRT85_HUMAN
resolver
uniprot_sec
Q9NSB1
resolver
amino_acid_sequence
MSCRSYRISSGCGVTRNFSSCSAVAPKTGNRCCISAAPYRGVSCYRGLTGFGSRSLCNLGSCGPRIAVGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKWQFYQNQRCCESNLEPLFSGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAENEFVVLKKDVDCAYLRKSDLEANVEALVEESSFLRRLYEEEIRVLQAHISDTSVIVKMDNSRDLNMDCIIAEIKAQYDDVASRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEIENAKCQRAKLEAAVAEAEQQGEAALSDARCKLAELEGALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEHRLCEGVGSVNVCVSSSRGGVSCGGLSYSTTPGRQITSGPSAIGGSITVVAPDSCAPCQPRSSSFSCGSSRSVRFA
uniprot
proteins
disease_involvement
DISEASE: Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: 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. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:16525032}. 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 follicle (PubMed:16525032). As a type II hair keratin, participates in the formation of keratin intermediate filament networks by forming obligate heterodimers with type I hair keratins (PubMed:16525032). Expressed at early stages of hair differentiation in matrix cells and later in cuticle-forming cells, where it contributes to the structural integrity and mechanical resilience of the hair shaft (PubMed:16525032). {ECO:0000269|PubMed:16525032}.
uniprot
proteins
mass_dalton
55802
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10692104
uniprot
proteins
pubmed
11445569
uniprot
proteins
pubmed
16525032
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
9084137
uniprot
proteins
sequence_length
507
uniprot
proteins