ID:KRT85_HUMAN DESCRIPTION: RecName: Full=Keratin, type II cuticular Hb5; AltName: Full=Hair keratin K2.12; AltName: Full=Keratin-85; Short=K85; AltName: Full=Type II hair keratin Hb5; AltName: Full=Type-II keratin Kb25; SUBUNIT: Heterotetramer of two type I and two type II keratins. TISSUE SPECIFICITY: Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft. DISEASE: Defects in KRT85 are the cause of ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDPHN 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. MISCELLANEOUS: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). SIMILARITY: Belongs to the intermediate filament family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00038 - Intermediate filament protein PF16208 - Keratin type II head
SCOP Domains: 140570 - MukF C-terminal domain-like 101082 - Typo IV secretion system protein TraC 57184 - Growth factor receptor domain 64593 - Intermediate filament protein, coiled coil region
ModBase Predicted Comparative 3D Structure on P78386
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.