CK1

KRT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4ZRY
Identifiers
Aliases	KRT1, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK, keratin 1
External IDs	OMIM: 139350 MGI: 96698 HomoloGene: 38146 GeneCards: KRT1
Gene ontology Molecular function • protein binding • structural molecule activity • carbohydrate binding • receptor activity Cellular component • intermediate filament • extracellular matrix • blood microparticle • plasma membrane • keratin filament • cytoskeleton • membrane • nucleus • extracellular exosome • extracellular region • extracellular space • cytosol • ficolin-1-rich granule lumen Biological process • complement activation, lectin pathway • retina homeostasis • regulation of angiogenesis • negative regulation of inflammatory response • response to oxidative stress • fibrinolysis • establishment of skin barrier • keratinization • neutrophil degranulation • cornification Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3848	16678
Ensembl	ENSG00000167768	ENSMUSG00000046834
UniProt	P04264	P04104
RefSeq (mRNA)	NM_006121	NM_008473
RefSeq (protein)	NP_006112	NP_032499.2 NP_032499
Location (UCSC)	Chr 12: 52.67 – 52.68 Mb	Chr 15: 101.85 – 101.85 Mb
PubMed search

4ZRY

3848

16678

ENSG00000167768

ENSMUSG00000046834

P04264

P04104

NM_006121

NM_008473

NP_006112

NP_032499.2
NP_032499

Keratin 1 is a member of the keratin family. It is specifically expressed in the spinous and granular layers of the epidermis with family member keratin 10. Mutations in this gene have been associated with the variants of bullous congenital ichthyosiform erythroderma in which the palms and soles of the feet are affected.

This gene, of the keratin family, is formed by type II cytokeratins set in pairs in a heterotypic chain which are shown through the differentiation of epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis. Connections between mutations in the Keratin family and bullous congenital ichthyosiform erythroderma have been made, on account of type II cytokeratins being found clustered in a region of chromosomes 12q12-q13.

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