Version 5.4
Homo sapiens Protein: LOR
Summary
InnateDB Protein IDBP-102635.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LOR
Protein Name loricrin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000357731
InnateDB Gene IDBG-102633 (LOR)
Protein Structure
UniProt Annotation
Function Major keratinocyte cell envelope protein.
Subcellular Localization Cytoplasm. Nucleus, nucleoplasm.
Disease Associations Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]: A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. {ECO:0000269PubMed:12072018, ECO:0000269PubMed:12615358, ECO:0000269PubMed:9326323}. 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 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [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
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0030674 protein binding, bridging
Biological Process
GO:0018149 peptide cross-linking
GO:0030216 keratinocyte differentiation
GO:0031424 keratinization
Cellular Component
GO:0001533 cornified envelope
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P23490
PhosphoSite PhosphoSite-P23490
TrEMBL Q6FHY3
UniProt Splice Variant
Entrez Gene 4014
UniGene Hs.251680
RefSeq NP_000418
HUGO HGNC:6663
OMIM 152445
CCDS CCDS30870
HPRD 01070
IMGT
EMBL AL161636 BC034690 BC108290 CR536555 M61120 M94077
GenPept AAA36180 AAA36181 AAH34690 AAI08291 CAG38792 CAI19560

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