Version 5.4
Homo sapiens Protein: KRT5
Summary
InnateDB Protein IDBP-34678.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRT5
Protein Name keratin 5
Synonyms CK5; DDD; DDD1; EBS2; K5; KRT5A;
Species Homo sapiens
Ensembl Protein ENSP00000252242
InnateDB Gene IDBG-34676 (KRT5)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Epidermolysis bullosa simplex, Dowling-Meara type (DM- EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. {ECO:0000269PubMed:10730767, ECO:0000269PubMed:12655565, ECO:0000269PubMed:1372711, ECO:0000269PubMed:16786515, ECO:0000269PubMed:16882168, ECO:0000269PubMed:8757772, ECO:0000269PubMed:9036937, ECO:0000269PubMed:9406827, ECO:0000269PubMed:9989794, ECO:0000269Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, Weber-Cockayne type (WC- EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. {ECO:0000269PubMed:10782015, ECO:0000269PubMed:12655565, ECO:0000269PubMed:12707098, ECO:0000269PubMed:14723728, ECO:0000269PubMed:15140024, ECO:0000269PubMed:15347343, ECO:0000269PubMed:16786515, ECO:0000269PubMed:16882168, ECO:0000269PubMed:7506097, ECO:0000269PubMed:7520042, ECO:0000269PubMed:7688477, ECO:0000269PubMed:8595431, ECO:0000269PubMed:8807337, ECO:0000269PubMed:9804357}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. {ECO:0000269PubMed:11407988, ECO:0000269PubMed:11973334, ECO:0000269PubMed:16882168, ECO:0000269PubMed:7534039, ECO:0000269PubMed:7686424, ECO:0000269PubMed:9740251, ECO:0000269PubMed:9989794}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. {ECO:0000269PubMed:10494094, ECO:0000269PubMed:16882168, ECO:0000269PubMed:8799157}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269PubMed:16465624}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 50 [view]
Protein-Protein 50 [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:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0097110 scaffold protein binding
Biological Process
GO:0008544 epidermis development
GO:0031581 hemidesmosome assembly
GO:0034329 cell junction assembly
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0045095 keratin filament
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001664 Intermediate filament protein
IPR003054 Keratin, type II
IPR009053 Prefoldin
PFAM PF00038
PRINTS PR01276
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P13647
PhosphoSite PhosphoSite-P13647
TrEMBL Q9UEK9
UniProt Splice Variant
Entrez Gene 3852
UniGene Hs.433845
RefSeq NP_000415
HUGO HGNC:6442
OMIM 148040
CCDS CCDS8830
HPRD 01010
IMGT
EMBL AC055736 AF274874 AK296823 AY373434 BC024292 BC042132 BC071906 D50666 M19723 M21389 M28496
GenPept AAA36143 AAA36145 AAF97931 AAH24292 AAH42132 AAH71906 AAQ81588 BAA09320 BAG59394

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca