Version 5.4
Homo sapiens Protein: KRT12
Summary
InnateDB Protein IDBP-48297.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRT12
Protein Name keratin 12
Synonyms K12;
Species Homo sapiens
Ensembl Protein ENSP00000251643
InnateDB Gene IDBG-48295 (KRT12)
Protein Structure
UniProt Annotation
Function May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity (By similarity). {ECO:0000250}.
Subcellular Localization
Disease Associations Corneal dystrophy, Meesmann (MECD) [MIM:122100]: An autosomal dominant corneal disease characterized by fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. {ECO:0000269PubMed:10644419, ECO:0000269PubMed:10781519, ECO:0000269PubMed:12543196, ECO:0000269PubMed:15148206, ECO:0000269PubMed:16227835, ECO:0000269PubMed:16352477, ECO:0000269PubMed:9171831, ECO:0000269PubMed:9399908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Cornea specific. {ECO:0000269PubMed:8759347}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
Biological Process
GO:0007601 visual perception
Cellular Component
GO:0005882 intermediate filament
GO:0070062 extracellular vesicular exosome
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 Q99456
PhosphoSite PhosphoSite-Q99456
TrEMBL
UniProt Splice Variant
Entrez Gene 3859
UniGene Hs.66739
RefSeq NP_000214
HUGO HGNC:6414
OMIM 601687
CCDS CCDS11378
HPRD 03405
IMGT
EMBL AB007119 AF137286 AK313747 CH471152 D78367
GenPept AAF61432 BAA11376 BAA25063 BAG36487 EAW60685

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