Homo sapiens Gene: LOR

Summary
InnateDB Gene IDBG-102633.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol LOR
Gene Name loricrin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000203782
Encoded Proteins
IDBP-102635 loricrin
Entrez Gene
Summary This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1: 153232176-153234598
Strand Forward strand
Band q21.3
Transcripts
ENST00000368742  ENSP00000357731
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
Accession GO Term
Molecular Function
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0030280 structural constituent of epidermis
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
GO:0009898 internal side of plasma membrane
Orthologs
Species
Mus musculus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000043165 RBBH Low Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P23490 
TrEMBL Q6FHY3
UniProt Splice Variant
Entrez Gene 4014 
UniGene Hs.251680
RefSeq NM_000427 
HUGO 6663 
OMIM 152445
CCDS CCDS30870 
HPRD 01070
IMGT
EMBL AL161636 BC034690 BC108290 CR536555 M61120 M94077
GenPept AAA36180  AAA36181  AAH34690  AAI08291  CAG38792  CAI19560 
ImmGen LOR (murine) 
RNA Seq Atlas 4014