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 Porokeratosis and Skin Disease. 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 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
GeneHancer (GH) Regulatory Elements for IVL Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH01I152904 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE | 557.9 | -1.8 | -1843 | 3.8 | PKNOX1 ZBTB21 KLF17 EBF1 BATF IRF4 RELA ZNF335 GATA3 ZNF366 | IVL SMCP | |
| GH01I152879 | Enhancer | 0.5 | ENCODE | 0.3 | -28.0 | -28022 | 1.6 | CTCF FOXA2 JUND RXRA HNF4A YY1 | SMCP IVL GC01P152823 | |
| GH01I152941 | Enhancer | 0.3 | ENCODE | 0.3 | +33.1 | 33139 | 0.9 | CTCF | SPRR4 LOC105371446 LINC01527 SPRR5 IVL |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around IVL on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
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.
Other Protein References for IVL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for IVL
-
Abcam antibodies for IVL
-
Cloud-Clone Corp. Antibodies for IVL
- Invitrogen Antibodies for IVL
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-
Santa Cruz Biotechnology (SCBT) Antibodies for IVL
Protein Products
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-
Cloud-Clone Corp. Proteins for IVL
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-
Abcam proteins for IVL
Assay Products
-
Cloud-Clone Corp. Assay Kits for IVL
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:
- 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.
Phenotypes From GWAS Catalog 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 |
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
-
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- Search ViGene Biosciences for IVL
CRISPR Products
-
OriGene CRISPR knockouts for IVL
- genomics-online: gRNA clones - Search results for available IVL gene related products
- Applied Biological Materials CRISPR for IVL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for IVL
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miRNA for IVL Gene
- miRTarBase miRNAs that target IVL
miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for IVL gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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- Applied Biological Materials Clones for IVL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for IVL
-
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-
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-
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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 |
- Cytosol (3)
- Centrosome (2)
- Nuclear bodies (2)
| 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
UniProtKB
IID
| 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
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- Applied Biological Materials CRISPR for IVL
-
Vectors and viruses for KO, Activation, Repression, and more
-
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Inhibitory RNA Products
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-
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Clone Products
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- Applied Biological Materials Clones for IVL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
- genomics-online: primer clones - Search results for available IVL gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | IVL 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | IVL 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | IVL 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ivl 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000408101 | -- | 152,909,271(+) | A/C | intron_variant | |
| rs1000547039 | -- | 152,910,584(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs1000572967 | -- | 152,906,681(+) | G/A | upstream_transcript_variant | |
| rs1000691868 | -- | 152,910,748(+) | G/T | coding_sequence_variant, missense_variant | |
| rs1000781975 | -- | 152,910,915(+) | T/G | coding_sequence_variant, missense_variant |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IVL Gene
Disorders for IVL Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| porokeratosis |
|
|
| skin disease |
|
|
| lichen planus |
|
|
| elastosis perforans serpiginosa |
|
|
| bullous pemphigoid |
|
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
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 LN … Steinert PM (The Journal of biological chemistry 1998) 3 4 22 58
- 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 58
- Structure and evolution of the human involucrin gene. (PMID: 2873896) Eckert RL … Green H (Cell 1986) 2 3 4 58
- Comparison between human fetal and adult skin. (PMID: 19701759) Coolen NA … Ulrich MM (Archives of dermatological research 2010) 3 22 58
- Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions. (PMID: 19515043) Barcelos AC … Sotto MN (Journal of cutaneous pathology 2009) 3 22 58
Products for IVL Gene
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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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
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- (150) Human Protein Atlas
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- (155) genomics-online
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- (157) EPDnew