Version 5.4
Homo sapiens Protein: KRT14
Summary
InnateDB Protein IDBP-49435.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRT14
Protein Name keratin 14
Synonyms CK14; EBS3; EBS4; K14; NFJ;
Species Homo sapiens
Ensembl Protein ENSP00000167586
InnateDB Gene IDBG-49433 (KRT14)
Protein Structure
UniProt Annotation
Function The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. {ECO:0000269PubMed:11724817}.
Subcellular Localization Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern.
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:10583131, ECO:0000269PubMed:10730767, ECO:0000269PubMed:10733662, ECO:0000269PubMed:10820403, ECO:0000269PubMed:11710919, ECO:0000269PubMed:12603865, ECO:0000269PubMed:12655565, ECO:0000269PubMed:12707098, ECO:0000269PubMed:14987259, ECO:0000269PubMed:16786515, ECO:0000269PubMed:16882168, ECO:0000269PubMed:1717157, ECO:0000269PubMed:7561171, ECO:0000269PubMed:7688405, ECO:0000269PubMed:8601736, ECO:0000269PubMed:9804355, ECO:0000269PubMed:9989794, ECO:0000269Ref.28}. 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:10733662, ECO:0000269PubMed:12603865, ECO:0000269PubMed:12655565, ECO:0000269PubMed:12707098, ECO:0000269PubMed:14987259, ECO:0000269PubMed:16786515, ECO:0000269PubMed:16882168, ECO:0000269PubMed:7506097, ECO:0000269PubMed:7506606, ECO:0000269PubMed:7561171, ECO:0000269PubMed:9284105, ECO:0000269PubMed:9804357, ECO:0000269PubMed:9989794}. 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:10733662, ECO:0000269PubMed:10820403, ECO:0000269PubMed:11710919, ECO:0000269PubMed:16786515, ECO:0000269PubMed:1720261, ECO:0000269PubMed:7526926, ECO:0000269PubMed:7682883, ECO:0000269PubMed:9989794, ECO:0000269Ref.10, ECO:0000269Ref.28}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. {ECO:0000269PubMed:7526933}. Note=The disease is caused by mutations affecting the gene represented in this entry.Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. {ECO:0000269PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. {ECO:0000269PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen. {ECO:0000269PubMed:9457912}.
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 7 interaction(s) predicted by orthology.
Experimentally validated
Total 50 [view]
Protein-Protein 47 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:1990254 keratin filament binding
Biological Process
GO:0007568 aging
GO:0008544 epidermis development
GO:0010043 response to zinc ion
GO:0010212 response to ionizing radiation
GO:0030855 epithelial cell differentiation
GO:0031581 hemidesmosome assembly
GO:0034329 cell junction assembly
GO:0042633 hair cycle
GO:0045110 intermediate filament bundle assembly
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament
GO:0070062 extracellular vesicular exosome
GO:0071944 cell periphery
Protein Structure and Domains
PDB ID
InterPro IPR001664 Intermediate filament protein
IPR002957 Keratin, type I
IPR009053 Prefoldin
PFAM PF00038
PRINTS PR01248
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P02533
PhosphoSite PhosphoSite-P02533
TrEMBL K7ENV3
UniProt Splice Variant
Entrez Gene 3861
UniGene Hs.654380
RefSeq NP_000517
HUGO HGNC:6416
OMIM 148066
CCDS CCDS11400
HPRD 01017
IMGT
EMBL AC019349 AC130686 AF186085 AF186086 AF186087 AF186088 AF186089 AF186090 BC002690 BC019097 BC042437 BC094830 BT007186 CH471152 D28807 J00124
GenPept AAB59562 AAF04034 AAF04035 AAF04036 AAF04037 AAF04038 AAF04039 AAH02690 AAH19097 AAH42437 AAH94830 AAP35850 BAA05967 EAW60745 EAW60748

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