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Aliases for IVL Gene

Aliases for IVL Gene

  • Involucrin 2 3 3 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 Porokeratosis and Skin Disease. Among its related pathways are Keratinization and Corticotropin-releasing hormone signaling pathway. GO annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot for IVL Gene

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

Gene Wiki entry for IVL Gene

Additional gene information for IVL Gene

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

Genomics for IVL Gene

Regulatory Elements for IVL Gene

Enhancers for IVL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H152904 1 Ensembl ENCODE 7.9 -1.8 -1844 3 PKNOX1 ZBTB21 KLF17 BATF RELA GATA3 ZBTB48 ZNF366 EED SCRT2 IVL SMCP
GH01H152879 0.6 ENCODE 0.3 -28.0 -28022 1 CTCF FOXA2 JUND EED HNF4A YY1 SMCP IVL
GH01H152941 0.4 ENCODE 0.3 +33.1 33140 0 CTCF SPRR4 LOC105371446 SPRR5 IVL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IVL on UCSC Golden Path with GeneCards custom track

Genomic Location for IVL Gene

Chromosome:
1
Start:
152,908,545 bp from pter
End:
152,911,886 bp from pter
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

Suggested Antigen Peptide Sequences for IVL Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot Function:
Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia.

Phenotypes From GWAS Catalog for IVL Gene

Gene Ontology (GO) - Molecular Function for IVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 42494
GO:0005515 protein binding IPI 21044950
GO:0030674 protein binding, bridging IDA 10908733
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

Clone Products

  • Applied Biological Materials Clones for IVL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 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 TAS --
GO:0005737 cytoplasm IDA 42494
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

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

No data available for SIGNOR curated interactions for IVL Gene

Drugs & Compounds for IVL Gene

(44) Drugs for IVL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(43) 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 :
(3) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IVL Gene

Involucrin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IVL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for IVL Gene

GeneLoc Exon Structure for
IVL
ECgene alternative splicing isoforms for
IVL

Expression for IVL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for IVL Gene



Protein tissue co-expression partners for IVL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IVL Gene:

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

Primer Products

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 33 34
  • 97 (n)
dog
(Canis familiaris)
Mammalia IVL 34
  • 48 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IVL 34
  • 37 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ivl 34
  • 28 (a)
OneToOne
Species where no ortholog for IVL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for IVL Gene

No data available for Paralogs for IVL Gene

Variants for IVL Gene

Sequence variations from dbSNP and Humsavar for IVL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000408101 -- 152,909,271(+) GATTC(A/C)GGCCT intron-variant
rs1000547039 -- 152,910,584(+) GACAG(C/T)TGAAG reference, synonymous-codon
rs1000572967 -- 152,906,681(+) CTATG(A/G)GAAAA upstream-variant-2KB
rs1000691868 -- 152,910,748(+) CTGGA(G/T)CAGCA reference, missense
rs1000781975 -- 152,910,915(+) GCAGC(G/T)GAAGC reference, missense

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)

Relevant External Links for IVL Gene

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

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

Disorders for IVL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
porokeratosis
  • disseminated superficial actinic porokeratosis
skin disease
  • genodermatosis
lichen planus
  • lichen ruber planus
elastosis perforans serpiginosa
  • elastoma intrapapillare perforans verruciformis
bullous pemphigoid
  • benign pemphigus
- elite association - COSMIC cancer census association via MalaCards
Search IVL in MalaCards View complete list of genes associated with diseases

Relevant External Links for IVL

Genetic Association Database (GAD)
IVL
Human Genome Epidemiology (HuGE) Navigator
IVL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IVL
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. 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 22 60
  2. 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 22 60
  3. Structure and evolution of the human involucrin gene. (PMID: 2873896) Eckert RL … Green H (Cell 1986) 2 3 4 60
  4. Comparison between human fetal and adult skin. (PMID: 19701759) Coolen NA … Ulrich MM (Archives of dermatological research 2010) 3 22 60
  5. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S … Hoffjan S (International journal of immunogenetics 2009) 3 45 60

Products for IVL Gene

Sources for IVL Gene

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