Version 5.4
Homo sapiens Protein: CNFN
Summary
InnateDB Protein IDBP-54283.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNFN
Protein Name cornifelin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000222032
InnateDB Gene IDBG-54281 (CNFN)
Protein Structure
UniProt Annotation
Function Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. {ECO:0000269PubMed:15147942}.
Subcellular Localization Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope. {ECO:0000250}.
Disease Associations
Tissue Specificity Abundant in the cervix. Moderately abundant in the uterus and fetal skin. Expression is markedly increased in psoriatic skin (18.5 fold increase in comparison with normal skin) and its overexpression alters the protein composition of cornified cell envelope (CE), but does not affect keratinocyte differentiation. Expressed in the granular cell layer of epidermis in uninvolved psoriatic skin and in the psoriatic lesions it is found in the upper-spinous layer. Increased expression also seen in atopic dermatitis (14.3 fold increase in comparison with normal skin) and mycosis fungoides (4.6 fold increase in comparison with normal skin) and in both conditions expressed in the granular cell layer of epidermis. {ECO:0000269PubMed:15147942}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0031424 keratinization
Cellular Component
GO:0001533 cornified envelope
GO:0005737 cytoplasm
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR006461 Uncharacterised protein family Cys-rich
PFAM PF04749
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BYD5
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 84518
UniGene Hs.148590
RefSeq NP_115877
HUGO HGNC:30183
OMIM 611764
CCDS CCDS12606
HPRD 16729
IMGT
EMBL AB049591 AK312080 BC101197 BC101198
GenPept AAI01198 AAI01199 BAB40656 BAG35016

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