InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KRT1

Summary

InnateDB Protein

IDBP-34898.6

Last Modified

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

Gene Symbol

KRT1

Protein Name

keratin 1

Synonyms

CK1; EHK; EHK1; EPPK; K1; KRT1A; NEPPK;

Species

Homo sapiens

Ensembl Protein

ENSP00000252244

InnateDB Gene

IDBG-34896 (KRT1)

Protein Structure

UniProt Annotation

Function

May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK. {ECO:0000269PubMed:17956333, ECO:0000269PubMed:21544310}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:17956333}. Note=Located on plasma membrane of neuroblastoma NMB7 cells.

Disease Associations

Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. {ECO:0000269PubMed:10232403, ECO:0000269PubMed:10688370, ECO:0000269PubMed:10844506, ECO:0000269PubMed:11531804, ECO:0000269PubMed:12406348, ECO:0000269PubMed:1380725, ECO:0000269PubMed:1381288, ECO:0000269PubMed:7507151, ECO:0000269PubMed:7507152, ECO:0000269PubMed:7512983, ECO:0000269PubMed:9856846}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ichthyosis hystrix, Curth-Macklin type (IHCM) [MIM:146590]: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. {ECO:0000269PubMed:11286616}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962]: A dermatological disorder characterized by well- demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. {ECO:0000269PubMed:11286630, ECO:0000269PubMed:7528239}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. {ECO:0000269PubMed:10053007, ECO:0000269PubMed:10597140}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratoderma, palmoplantar, striate 3 (SPPK3) [MIM:607654]: A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. {ECO:0000269PubMed:11982762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	66 [view]
Protein-Protein	66 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005198	structural molecule activity
GO:0005515	protein binding
GO:0030246	carbohydrate binding

Biological Process

GO:0001867	complement activation, lectin pathway
GO:0001895	retina homeostasis
GO:0006979	response to oxidative stress
GO:0042730	fibrinolysis
GO:0045765	regulation of angiogenesis
GO:0050728	negative regulation of inflammatory response
GO:0061436	establishment of skin barrier

Cellular Component

GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005856	cytoskeleton
GO:0005882	intermediate filament
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0045095	keratin filament
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle