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Aliases for IVL Gene

Aliases for IVL Gene

  • Involucrin 2 3

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 elastosis perforans serpiginosa and keratosis palmoplantaris striata. Among its related pathways are Corticotropin-releasing hormone and G-Beta Gamma Signaling. 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

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

Genomics for IVL Gene

Regulatory Elements for IVL Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for IVL Gene at MOPED

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:

Antibody Products

No data available for DME Specific Peptides for IVL Gene

Domains & Families for IVL Gene

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

No data available for Gene Families for IVL Gene

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

Gene Ontology (GO) - Molecular Function for IVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IDA 42494
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 Models for IVL Gene

MGI Knock Outs for IVL:

miRNA for IVL Gene

miRTarBase miRNAs that target IVL

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IVL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for IVL Gene COMPARTMENTS Subcellular localization image for IVL gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for IVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 10908733
GO:0005737 cytoplasm IDA 42494
GO:0070062 extracellular exosome IDA 19199708
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

(38) Drugs for IVL Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acitretin Approved Pharma Metabolite of etretinate 29
Calcipotriol Approved Pharma Agonist 0
Chloramphenicol Approved Pharma 6
Dexamethasone Approved, Investigational Pharma Agonist 1806
Hydrocortisone Approved Pharma Agonist 550

(49) Additional Compounds for IVL Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,25 DIHYDROXY VITAMIN D3
12-O-Tetradecanoylphorbol 13-acetate
2-MERCAPTOETHANOL
5fluorouracil
Acetone
  • 2-Propanone
  • Acetone
  • b-Ketopropane
  • beta-Ketopropane
  • Dimethyl ketone
67-64-1
genes like me logo Genes that share compounds with IVL: view

Transcripts for IVL Gene

mRNA/cDNA for IVL Gene

(2) 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IVL

Flow Cytometry Products

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 for IVL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



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

Protein tissue co-expression partners for IVL Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

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 35
  • 97 (n)
  • 94.12 (a)
IVL 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ivl 16
Ivl 36
  • 28 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IVL 36
  • 37 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IVL 36
  • 48 (a)
OneToOne
Species with no ortholog for IVL:
  • 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 MAF
rs913996 -- 152,911,635(-) CCTAG(C/T)GGACC utr-variant-3-prime
rs1854778 -- 152,908,247(-) TGCTC(C/T)GAATC upstream-variant-2KB
rs746372757 -- 152,911,316(+) AGCAG(A/G)AAAAG missense, reference
rs746371822 -- 152,908,454(+) TGACC(A/G)ACTAG upstream-variant-2KB
rs746362548 -- 152,910,082(+) CAGCA(C/T)GAGGA synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
dgv131e1 CNV Complex 17122850
nsv831592 CNV Gain 17160897
esv29281 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
IVL

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

Disorders for IVL Gene

MalaCards: The human disease database

(18) MalaCards diseases for IVL Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
elastosis perforans serpiginosa
  • elastoma intrapapillare perforans verruciformis
keratosis palmoplantaris striata
  • keratosis palmoplantaris striata et areata
predominantly cortical thymoma
  • lymphocyte-predominant thymoma
porokeratosis
  • porokeratosis, nos
senile angioma
  • senile hemangioma
- elite association
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. Protein kinase C-dependent upregulation of miR-203 induces the differentiation of human keratinocytes. (PMID: 19759552) Sonkoly E. … Pivarcsi A. (J. Invest. Dermatol. 2010) 23 67
  2. Pleomorphic carcinoma of the breast in a 17-year-old woman. (PMID: 20340005) Yamaguchi R. … Yano H. (Med Mol Morphol 2010) 23 67
  3. Sedimentation field-flow fractionation separation of proliferative and differentiated subpopulations during Ca2+-induced differentiation in HaCaT cells. (PMID: 20371217) Micallef L. … Simon A. (J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2010) 23 67
  4. Arsenite suppression of involucrin transcription through AP1 promoter sites in cultured human keratinocytes. (PMID: 20006635) Sinitsyna N.N. … Rice R.H. (Toxicol. Appl. Pharmacol. 2010) 23 67
  5. Comparison between human fetal and adult skin. (PMID: 19701759) Coolen N.A. … Ulrich M.M. (Arch. Dermatol. Res. 2010) 23 67

Products for IVL Gene

Sources for IVL Gene

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