KRT1 : keratin 1

Description

The KRT1 (keratin 1) is a protein-coding gene located on chromosome 12.

The KRT1 gene provides instructions for making a protein called keratin 1. Keratins are tough, fibrous proteins that form the structural framework of cells called keratinocytes, which make up the skin, hair, and nails. Keratin 1 is produced in keratinocytes in the outer layer of the skin (the epidermis), including the skin on the palms of the hands and soles of the feet. Keratin 1 combines with another keratin protein, either keratin 9 or keratin 10, to create molecules called keratin intermediate filaments. These filaments assemble into strong networks that give the skin strength and resilience, protecting it from damage caused by friction and other everyday physical stresses.

Keratin 1 may regulate the activity of kinases like PKC and SRC by binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). When complexed with C1QBP, it acts as a high affinity receptor for kininogen-1/HMWK.

KRT1 is also known as AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing