Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008] See more...

Aliases for IVL Gene

Aliases for IVL Gene

  • Involucrin 2 3 4 5
  • IVL 5

External Ids for IVL Gene

Previous GeneCards Identifiers for IVL Gene

  • GC01P150697
  • GC01P148663
  • GC01P149656
  • GC01P150097
  • GC01P149695
  • GC01P151147
  • GC01P124244

Summaries for IVL Gene

Entrez Gene Summary for IVL Gene

  • Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. [provided by RefSeq, Jul 2008]

GeneCards Summary for IVL Gene

IVL (Involucrin) is a Protein Coding gene. Diseases associated with IVL include Ichthyosis Vulgaris and Cholesteatoma Of Middle Ear. Among its related pathways are Keratinization and Validated transcriptional targets of AP1 family members Fra1 and Fra2. Gene Ontology (GO) annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot Summary for IVL Gene

  • Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.

Gene Wiki entry for IVL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IVL Gene

Genomics for IVL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IVL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J152904 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 607.8 -2.0 -2044 4.6 ATF7 ZNF629 FOXA1 JUND RELA IKZF2 SCRT2 EED DPF2 RUNX3 IVL JA662202 RF00994-057 SMCP
GH01J152909 Enhancer 0.2 Ensembl 607.8 +0.8 756 0.2 IVL JA662202 SPRR5
GH01J152886 Enhancer 0.6 Ensembl 0.4 -22.0 -22044 0.2 SP1 FOXA2 YY1 ZBTB33 JUND HNF4A RXRA MAX REST FOXA1 RF00994-057 SMCP IVL
GH01J152879 Enhancer 0.6 ENCODE 0.3 -28.0 -28022 1.6 EED CEBPB FOXA2 TCF12 YY1 JUND HNF4A RXRA CTCF SP1 SMCP RF00994-057 IVL
GH01J152884 Enhancer 0.5 Ensembl 0.4 -23.5 -23544 2 EED RUNX3 ZBTB33 JUNB JUND SPI1 RF00994-057 SMCP IVL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IVL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IVL

Top Transcription factor binding sites by QIAGEN in the IVL gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HEN1
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • SREBP-1a
  • USF-1
  • USF1

Genomic Locations for IVL Gene

Genomic Locations for IVL Gene
chr1:152,908,545-152,911,886
(GRCh38/hg38)
Size:
3,342 bases
Orientation:
Plus strand
chr1:152,881,021-152,884,362
(GRCh37/hg19)
Size:
3,342 bases
Orientation:
Plus strand

Genomic View for IVL Gene

Genes around IVL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IVL Gene

Proteins for IVL Gene

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

    Protein Symbol:
    P07476-INVO_HUMAN
    Recommended name:
    Involucrin
    Protein Accession:
    P07476
    Secondary Accessions:
    • Q5T7P4

    Protein attributes for IVL Gene

    Size:
    585 amino acids
    Molecular mass:
    68479 Da
    Quaternary structure:
    • Directly or indirectly cross-linked to cornifelin (CNFN).

    Three dimensional structures from OCA and Proteopedia for IVL Gene

neXtProt entry for IVL Gene

Post-translational modifications for IVL Gene

  • Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other involucrin molecules, to other proteins such as keratin, desmoplakin, periplakin and envoplakin, and to lipids like omega-hydroxyceramide.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IVL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IVL Gene

Domains & Families for IVL Gene

Gene Families for IVL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for IVL Gene

InterPro:
Blocks:
  • Involucrin repeat
  • Involucrin
ProtoNet:

Suggested Antigen Peptide Sequences for IVL Gene

GenScript: Design optimal peptide antigens:
  • Involucrin (INVO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07476

UniProtKB/Swiss-Prot:

INVO_HUMAN :
  • Belongs to the involucrin family.
Family:
  • Belongs to the involucrin family.
genes like me logo Genes that share domains with IVL: view

Function for IVL Gene

Molecular function for IVL Gene

UniProtKB/Swiss-Prot Function:
Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.
GENATLAS Biochemistry:
involucrin,precursor of cornified cell enveloppe (major component of keratinocyte cross-linked enveloppe),SPRR family,cytosol protein ultimately cross-linked to membrane by transglutaminase

Phenotypes From GWAS Catalog for IVL Gene

Gene Ontology (GO) - Molecular Function for IVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with IVL: view
genes like me logo Genes that share phenotypes with IVL: view

Animal Model Products

CRISPR Products

miRNA for IVL Gene

miRTarBase miRNAs that target IVL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IVL

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IVL Gene

Localization for IVL Gene

Subcellular locations from UniProtKB/Swiss-Prot for IVL Gene

Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IVL gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centrosome (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA,TAS --
GO:0005737 cytoplasm IDA 16639001
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with IVL: view

Pathways & Interactions for IVL Gene

genes like me logo Genes that share pathways with IVL: view

Pathways by source for IVL Gene

SIGNOR curated interactions for IVL Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for IVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010224 response to UV-B IDA 16639001
GO:0018149 peptide cross-linking IDA 10908733
GO:0018153 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine TAS 1601889
GO:0030216 keratinocyte differentiation IDA 10908733
GO:0031424 keratinization IEA --
genes like me logo Genes that share ontologies with IVL: view

Drugs & Compounds for IVL Gene

(43) Drugs for IVL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(44) Additional Compounds for IVL Gene - From: Novoseek

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

Transcripts for IVL Gene

mRNA/cDNA for IVL Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IVL

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

No ASD Table

Relevant External Links for IVL Gene

GeneLoc Exon Structure for
IVL

Expression for IVL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IVL Gene

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

This gene is overexpressed in Esophagus - Mucosa (x13.5), Vagina (x9.9), Cervix - Ectocervix (x8.8), Minor Salivary Gland (x7.7), Skin - Not Sun Exposed (Suprapubic) (x6.9), and Skin - Sun Exposed (Lower leg) (x5.1).

Protein differential expression in normal tissues from HIPED for IVL Gene

This gene is overexpressed in Cervix (28.1), Esophagus (9.8), Oral epithelium (9.3), and Saliva (8.4).

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



Protein tissue co-expression partners for IVL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IVL

SOURCE GeneReport for Unigene cluster for IVL Gene:

Hs.516439

mRNA Expression by UniProt/SwissProt for IVL Gene:

P07476-INVO_HUMAN
Tissue specificity: Keratinocytes of epidermis and other stratified squamous epithelia.

Evidence on tissue expression from TISSUES for IVL Gene

  • Skin(4.8)
  • Blood(2)
genes like me logo Genes that share expression patterns with IVL: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IVL Gene

Orthologs for IVL Gene

This gene was present in the common ancestor of mammals.

Orthologs for IVL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IVL 30 31
  • 97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IVL 31
  • 48 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia IVL 31
  • 37 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ivl 31
  • 28 (a)
OneToOne
Species where no ortholog for IVL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for IVL Gene

ENSEMBL:
Gene Tree for IVL (if available)
TreeFam:
Gene Tree for IVL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IVL: view image

Paralogs for IVL Gene

No data available for Paralogs for IVL Gene

Variants for IVL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IVL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
720545 Benign: not provided 152,910,661(+) G/A SYNONYMOUS_VARIANT
720546 Likely Benign: not provided 152,910,679(+) G/T MISSENSE_VARIANT
720547 Likely Benign: not provided 152,910,841(+) G/T MISSENSE_VARIANT
720995 Benign: not provided 152,910,289(+) G/A SYNONYMOUS_VARIANT
722173 Likely Benign: not provided 152,910,172(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IVL Gene

Structural Variations from Database of Genomic Variants (DGV) for IVL Gene

Variant ID Type Subtype PubMed ID
esv2758970 CNV gain+loss 17122850
esv29281 CNV loss 19812545
nsv547899 CNV gain 21841781
nsv831592 CNV gain 17160897
nsv998873 CNV gain 25217958

Variation tolerance for IVL Gene

Gene Damage Index Score: 4.14; 61.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IVL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IVL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IVL Gene

Disorders for IVL Gene

MalaCards: The human disease database

(58) MalaCards diseases for IVL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis vulgaris
  • ichthyosis simplex
cholesteatoma of middle ear
  • cholesteatoma
discoid lupus erythematosus
  • lupus erythematosus discoid
recessive dystrophic epidermolysis bullosa
  • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
porokeratosis
  • porokeratosis of mibelli
- elite association - COSMIC cancer census association via MalaCards
Search IVL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IVL

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

No data available for UniProtKB/Swiss-Prot and Genatlas for IVL Gene

Publications for IVL Gene

  1. Identification and characterization of a novel component of the cornified envelope, cornifelin. (PMID: 15147942) Michibata H … Imai Y (Biochemical and biophysical research communications 2004) 3 4 23
  2. Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. (PMID: 9651377) Marekov LN … Steinert PM (The Journal of biological chemistry 1998) 3 4 23
  3. S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. (PMID: 9115270) Robinson NA … Eckert RL (The Journal of biological chemistry 1997) 3 4 23
  4. Biophysical characterization of involucrin reveals a molecule ideally suited to function as an intermolecular cross-bridge of the keratinocyte cornified envelope. (PMID: 1601889) Yaffe MB … Eckert RL (The Journal of biological chemistry 1992) 3 4 23
  5. Structure and evolution of the human involucrin gene. (PMID: 2873896) Eckert RL … Green H (Cell 1986) 2 3 4

Products for IVL Gene

  • Signalway ELISA kits for IVL
  • Signalway Proteins for IVL

Sources for IVL Gene