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Aliases for LOR Gene

Aliases for LOR Gene

  • Loricrin 2 3 5
  • LRN 4

External Ids for LOR Gene

Previous GeneCards Identifiers for LOR Gene

  • GC01P151049
  • GC01P149015
  • GC01P150008
  • GC01P150449
  • GC01P150448
  • GC01P150045
  • GC01P151498
  • GC01P153233
  • GC01P124595

Summaries for LOR Gene

Entrez Gene Summary for LOR Gene

  • 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]

GeneCards Summary for LOR Gene

LOR (Loricrin) is a Protein Coding gene. Diseases associated with LOR include Vohwinkel Syndrome With Ichthyosis and Keratoderma Hereditarium Mutilans With Ichthyosis. GO annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot for LOR Gene

  • Major keratinocyte cell envelope protein.

Gene Wiki entry for LOR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOR Gene

Genomics for LOR Gene

Regulatory Elements for LOR Gene

Enhancers for LOR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LOR on UCSC Golden Path with GeneCards custom track

Genomic Location for LOR Gene

Chromosome:
1
Start:
153,259,635 bp from pter
End:
153,262,125 bp from pter
Size:
2,491 bases
Orientation:
Plus strand

Genomic View for LOR Gene

Genes around LOR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOR Gene

Proteins for LOR Gene

  • Protein details for LOR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23490-LORI_HUMAN
    Recommended name:
    Loricrin
    Protein Accession:
    P23490
    Secondary Accessions:
    • Q5T869
    • Q5XKF8

    Protein attributes for LOR Gene

    Size:
    312 amino acids
    Molecular mass:
    25761 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LOR Gene

Proteomics data for LOR Gene at MOPED

Post-translational modifications for LOR Gene

  • Contains inter- or intramolecular disulfide-bonds.
  • Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LOR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LOR Gene

Domains & Families for LOR Gene

Protein Domains for LOR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LOR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LOR: view

No data available for Gene Families and UniProtKB/Swiss-Prot for LOR Gene

Function for LOR Gene

Molecular function for LOR Gene

GENATLAS Biochemistry:
loricrin,26kDa,major protein component of the cornified cell enveloppe in stratum corneum,SPRR family
UniProtKB/Swiss-Prot Function:
Major keratinocyte cell envelope protein.

Gene Ontology (GO) - Molecular Function for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 10908733
GO:0005515 protein binding IPI 7592852
genes like me logo Genes that share ontologies with LOR: view
genes like me logo Genes that share phenotypes with LOR: view

Human Phenotype Ontology for LOR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOR Gene

Localization for LOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOR Gene

Cytoplasm. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LOR Gene COMPARTMENTS Subcellular localization image for LOR gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 2
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for LOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11698679
genes like me logo Genes that share ontologies with LOR: view

Pathways & Interactions for LOR Gene

SuperPathways for LOR Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOR Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOR Gene

Drugs & Compounds for LOR Gene

(6) Drugs for LOR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for LOR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LOR: view

Transcripts for LOR Gene

mRNA/cDNA for LOR Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LOR Gene

Loricrin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LOR Gene

No ASD Table

Relevant External Links for LOR Gene

GeneLoc Exon Structure for
LOR
ECgene alternative splicing isoforms for
LOR

Expression for LOR Gene

mRNA expression in normal human tissues for LOR Gene

mRNA differential expression in normal tissues according to GTEx for LOR Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x29.7) and Skin - Not Sun Exposed (Suprapubic) (x22.4).

Protein differential expression in normal tissues from HIPED for LOR Gene

This gene is overexpressed in Skin (51.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LOR Gene



SOURCE GeneReport for Unigene cluster for LOR Gene Hs.251680

genes like me logo Genes that share expression patterns with LOR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LOR Gene

Orthologs for LOR Gene

Evolution for LOR Gene

ENSEMBL:
Gene Tree for LOR (if available)
TreeFam:
Gene Tree for LOR (if available)

No data available for Orthologs for LOR Gene

Paralogs for LOR Gene

No data available for Paralogs for LOR Gene

Variants for LOR Gene

Sequence variations from dbSNP and Humsavar for LOR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs6661601 - 153,261,034(+) gcggc(A/G)gcggc reference, missense
rs56816110 - 153,261,803(+) CTCCT(C/T)CGTGG reference, missense
rs728863 -- 153,259,138(+) GTGCT(A/G)GGGAC upstream-variant-2KB
rs732700 -- 153,259,362(-) GAATA(C/G)GTCCC upstream-variant-2KB
rs943967 -- 153,259,400(+) TATGC(A/G)TCCTG upstream-variant-2KB

Variation tolerance for LOR Gene

Gene Damage Index Score: 8.42; 85.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOR Gene

Human Gene Mutation Database (HGMD)
LOR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LOR Gene

Disorders for LOR Gene

MalaCards: The human disease database

(17) MalaCards diseases for LOR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
vohwinkel syndrome with ichthyosis
  • loricrin keratoderma
keratoderma hereditarium mutilans with ichthyosis
  • camisa disease
vohwinkel syndrome
  • deafness, congenital, with keratopachydermia and constrictions of fingers and toes
erythrokeratodermia variabilis et progressiva
  • erythrokeratodermia variabilis with erythema gyratum repens
congenital ichthyosiform erythroderma
  • alligator skin
- elite association - COSMIC cancer census association via MalaCards
Search LOR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LORI_HUMAN
  • 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:0000269 PubMed:12072018, ECO:0000269 PubMed:12615358, ECO:0000269 PubMed:9326323}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LOR

Genetic Association Database (GAD)
LOR
Human Genome Epidemiology (HuGE) Navigator
LOR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOR
genes like me logo Genes that share disorders with LOR: view

No data available for Genatlas for LOR Gene

Publications for LOR Gene

  1. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. (PMID: 2007607) Hohl D. … Steinert P.M. (J. Biol. Chem. 1991) 2 3 4 23 67
  2. The human loricrin gene. (PMID: 1355480) Yoneda K. … Steinert P.M. (J. Biol. Chem. 1992) 2 3 23
  3. Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A. (PMID: 19672094) Jarzab J. … Jarzab B. (Int. Arch. Allergy Immunol. 2010) 3 23
  4. Protein kinase C delta and eta differently regulate the expression of loricrin and Jun family proteins in human keratinocytes. (PMID: 20184865) Kamioka N. … Ohba M. (Biochem. Biophys. Res. Commun. 2010) 3 23
  5. Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. (PMID: 20236940) Yoneda K. … Kubota Y. (J. Biol. Chem. 2010) 3 23

Products for LOR Gene

Sources for LOR Gene

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