Keratin 1

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.

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

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