Aliases for IVL Gene
External Ids for IVL Gene
- HGNC: 6187
- Entrez Gene: 3713
- Ensembl: ENSG00000163207
- OMIM: 147360
- UniProtKB: P07476
Previous GeneCards Identifiers for IVL Gene
- GC01P150697
- GC01P148663
- GC01P149656
- GC01P150097
- GC01P149695
- GC01P151147
- GC01P124244
Summaries 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 Porokeratosis. Among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 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.
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 |
|---|---|---|---|---|---|---|---|---|
| GH01G152904 | 1.1 | Ensembl ENCODE | 7.9 | -1.8 | -1844 | 3.8 | CTCF PKNOX1 ZBTB21 SIN3A KLF17 RAD21 YY1 RELA GATA3 ZBTB48 | IVL SMCP |
| GH01G152879 | 0.6 | ENCODE | 0.3 | -28.0 | -28022 | 1.6 | CTCF ZNF146 JUND EED CEBPB HNF4A YY1 | SMCP IVL |
| GH01G152941 | 0.4 | ENCODE | 0.3 | +33.1 | 33140 | 0.9 | CTCF RAD21 | 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
- Transcription factor binding sites by QIAGEN in the IVL gene promoter:
Regulatory Element Products
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:
-
- 1q21.3 by Ensembl
- 1q21.3 by Entrez Gene
- 1q21.3 by HGNC
IVL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q5T7P4
Protein attributes for IVL Gene
- Size:
- 585 amino acids
- Molecular mass:
- 68479 Da
- Quaternary structure:
-
- Directly or indirectly cross-linked to cornifelin (CNFN).
Protein Expression 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:
Antibody Products
- Novus Biologicals Antibodies for IVL
-
Cloud-Clone Corp. Antibodies for IVL
- Invitrogen Antibodies for IVL
- antibodies-online Antibodies for IVL: See all 129
- GeneTex IVL antibody for IVL
-
Santa Cruz Biotechnology (SCBT) Antibodies for IVL
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IVL
- Origene Custom Protein Services for IVL
- Novus Biologicals proteins for IVL
- ProSpec Recombinant Proteins for IVL
-
Cloud-Clone Corp. Proteins for IVL
- antibodies-online Proteins for IVL: See all 24
- Search antibodies-online for peptides
- Search GeneTex for Proteins for IVL
No data available for DME Specific Peptides for IVL Gene
Domains & Families for IVL Gene
Gene Families for IVL Gene
Protein Domains for IVL Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for IVL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P07476- Family:
-
- Belongs to the involucrin family.
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.
| 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 |
Phenotypes for IVL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for IVL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for IVL gene
- Search ViGene Biosciences for IVL
CRISPR Products
-
OriGene CRISPR knockouts for IVL
-
Santa Cruz Biotechnology (SCBT) CRISPR for IVL
- GenScript: Design CRISPR guide RNA sequences for IVL
miRNA for IVL Gene
- miRTarBase miRNAs that target IVL
miRNA Products
- Search ViGene Biosciences for IVL
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for IVL
- Browse OriGene Inhibitory RNA Products For IVL
-
ViGene Biosciences ready-to-package AAV shRNAs for IVL gene
Cell Line Products
-
Horizon Cell Lines for IVL
-
ViGene Biosciences adenoviral particle packaged cDNA for IVL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for IVL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for IVL gene
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 1 |
| peroxisome | 1 |
| 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 | -- |
Pathways & Interactions for IVL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratinization |
.33
|
|
| 2 | G-Beta Gamma Signaling |
.44
|
|
| 3 | Developmental Biology | ||
| 4 | Corticotropin-releasing hormone signaling pathway | ||
| 5 | Validated transcriptional targets of AP1 family members Fra1 and Fra2 | ||
Pathways by source for IVL Gene
2 BioSystems pathways for IVL Gene
3 Reactome pathways for IVL Gene
1 Qiagen pathway for IVL Gene
Interacting Proteins for IVL Gene
Selected Interacting proteins:
ENSP00000357753
P07476-INVO_HUMAN
for IVL Gene via
STRING
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for IVL Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for IVL
-
Santa Cruz Biotechnology (SCBT) CRISPR for IVL
- GenScript: Design CRISPR guide RNA sequences for IVL
miRNA Products
- Search ViGene Biosciences for IVL
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for IVL
- Browse OriGene Inhibitory RNA Products For IVL
-
ViGene Biosciences ready-to-package AAV shRNAs for IVL gene
Flow Cytometry Products
Expression for IVL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Corneal Transient Amplifying Cells Corneal Epithelium
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
- Esophageal keratinocytes
- Epidermis (Integumentary System)
-
Eye (Sensory Organs)
- Corneal Transient Amplifying Cells Corneal Epithelium
- Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
- NULL (Integumentary System)
- Hair
- Esophagus
- Uncategorized
-
Larynx (Respiratory System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of IVL Gene:
IVLSOURCE GeneReport for Unigene cluster for IVL Gene:
Hs.516439mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for IVL
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | IVL 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | IVL 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | IVL 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ivl 35 |
|
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)
Paralogs for IVL Gene
No data available for Paralogs for IVL Gene
Variants 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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| elastosis perforans serpiginosa |
|
|
| porokeratosis |
|
|
| mixed endometrial stromal and smooth muscle tumor |
|
|
| keratosis palmoplantaris striata |
|
|
| skin disease |
|
Search IVL in MalaCards
View complete list of genes associated with diseases
Relevant External Links for IVL
No data available for UniProtKB/Swiss-Prot and Genatlas for IVL Gene
Publications for IVL Gene
- Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. (PMID: 9651377) Marekov L.N. … Steinert P.M. (J. Biol. Chem. 1998) 3 4 22 64
- Biophysical characterization of involucrin reveals a molecule ideally suited to function as an intermolecular cross-bridge of the keratinocyte cornified envelope. (PMID: 1601889) Yaffe M.B. … Eckert R.L. (J. Biol. Chem. 1992) 3 4 22 64
- Structure and evolution of the human involucrin gene. (PMID: 2873896) Eckert R.L. … Green H. (Cell 1986) 2 3 4 64
- Comparison between human fetal and adult skin. (PMID: 19701759) Coolen N.A. … Ulrich M.M. (Arch. Dermatol. Res. 2010) 3 22 64
- Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S. … Hoffjan S. (Int. J. Immunogenet. 2009) 3 46 64
Products for IVL Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
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- Custom Antibody ServicesOriGene Antibodies for IVL
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IVL
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- GenScript: Next-day shipping cDNA ORF clone for IVL in any vector
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- Novus Biologicals Antibodies for IVL
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- Cloud-Clone Corp. Antibodies for IVL
- Cloud-Clone Corp. Proteins for IVL
- Cloud-Clone Corp Assay Kits for IVL
- antibodies-online Antibodies for IVL: See all 129
- antibodies-online Kits for IVL: See all 29
- antibodies-online Proteins for IVL: See all 24
- Search antibodies-online for peptides
- GeneTex IVL antibody for IVL
- Search GeneTex for Proteins for IVL
- ViGene Biosciences adenoviral particle packaged cDNA for IVL gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for IVL
- VectorBuilder custom plasmid, inducible vectors for IVL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for IVL
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for IVL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer