IVL involucrin [Homo sapiens (human)] - Gene

Summary

Official Symbol: IVLprovided by HGNC
Official Full Name: involucrinprovided by HGNC
Primary source: HGNC:HGNC:6187
See related: Ensembl:ENSG00000163207 MIM:147360; AllianceGenome:HGNC:6187
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Restricted expression toward esophagus (RPKM 127.7) See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (152908546..152911886)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (152045194..152048534)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (152881022..152884362)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.
Title: Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis.
Together, these results suggest that GR modulates involucrin expression of keratinocytes by regulating the intracellular signaling network in a ligand-independent manner.
Title: Glucocorticoid receptor enhances involucrin expression of keratinocyte in a ligand-independent manner.
over-expression of Nnat was evident along with involucrin and cytokeratin1 expression
Title: Neuronatin is related to keratinocyte differentiation by up-regulating involucrin.
involucrin is up-regulated in psoriatic keratinocytes
Title: Regulation of involucrin in psoriatic epidermal keratinocytes: the roles of ERK1/2 and GSK-3β.
KLF4 is part of a multiprotein complex that interacts that the hINV promoter distal regulatory region to drive differentiation-dependent hINV gene expression in epidermis.
Title: Protein kinase C δ increases Kruppel-like factor 4 protein, which drives involucrin gene transcription in differentiating keratinocytes.
Compared with the control, the level of expression of the IVL gene in NCTC 2544 cells was increased after 8 h of treatment with hyaluronic acid or Plantaricin A preparations.
Title: The antimicrobial peptide pheromone Plantaricin A increases antioxidant defenses of human keratinocytes and modulates the expression of filaggrin, involucrin, β-defensin 2 and tumor necrosis factor-α genes.
Therefore, together with trichohyalin, the cross-linking due to involucrin is also responsible for the mechanical resistance of the corneous trabeculae present among the empty spaces of the medulla of the human hair.
Title: Ultrastructural immunolocalization of involucrin in the medulla and inner root sheath of the human hair.
The authors found that HPV 16 E6 but not E7 repressed IVL promoter activity in proliferating human foreskin keratinocyte cells.
Title: Effects of human papillomavirus (HPV) type 16 oncoproteins on the expression of involucrin in human keratinocytes.
higher expression in the fetal skin than in adult skin
Title: Comparison between human fetal and adult skin.
expression of the epidermal differentiation complex genes filaggrin and involucrin was strongly decreased directly by IL-13.
Title: Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69071 (e-PCR)
- UniSTS:60485

RH18018 (e-PCR)
- UniSTS:14785

RH80799 (e-PCR)
- UniSTS:84215

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine	TAS Traceable Author Statement more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
involved_in response to UV-B	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: involucrin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.