InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KRT74

Summary

InnateDB Protein

IDBP-34769.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KRT74

Protein Name

keratin 74

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000307240

InnateDB Gene

IDBG-34765 (KRT74)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Disease Associations

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:0000269PubMed:20346438}. Note=The disease is caused by mutations affecting the gene represented in this entry.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. {ECO:0000269PubMed:21188418}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley layer, it is expressed in specialized Huxley cells, termed 'Fluegelzellen, along the area of differentiated Henle cells (at protein level). {ECO:0000269PubMed:12648212, ECO:0000269PubMed:16874310}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.