Ivl involucrin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ivlprovided by MGI
Official Full Name: involucrinprovided by MGI
Primary source: MGI:MGI:96626
See related: Ensembl:ENSMUSG00000049128 AllianceGenome:MGI:96626
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1110019C06Rik
Summary: Acts upstream of or within regulation of antibacterial peptide production. Located in cornified envelope. Is expressed in alimentary system; genitourinary system; limb digit; skin; and thymus. Orthologous to human IVL (involucrin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward bladder adult (RPKM 87.0) See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 40.14 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (92478206..92481097, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (92570899..92573790, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Involucrin Modulates Vitamin D Receptor Activity in the Epidermis.
Title: Involucrin Modulates Vitamin D Receptor Activity in the Epidermis.
we defined a molecular mechanism for IL-4 downregulation of involucrin in keratinocytes, which may play an important role in the pathogenesis of AD.
Title: Interleukin-4 Downregulation of Involucrin Expression in Human Epidermal Keratinocytes Involves Stat6 Sequestration of the Coactivator CREB-Binding Protein.
The Inv-Cldn6-CDelta206 transgenic mice displayed a developmental delay in epidermal permeability barrier formation, as shown by the expression of keratins and Cldns, and by X-Gal penetration assays.
Title: Involucrin-claudin-6 tail deletion mutant (CDelta206) transgenic mice: a model of delayed epidermal permeability barrier formation and repair.
the normally robust injury response mechanism of the epidermis is lost in the aging Involucrin-Cldn6-CDelta196 transgenic epidermis
Title: Dermatitis and aging-related barrier dysfunction in transgenic mice overexpressing an epidermal-targeted claudin 6 tail deletion mutant.
Skin biopsies from STAT6 transgenic mice were deficient in the expression and production of loricrin and involucrin.
Title: Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6.
Thus, combined loss of the cornified envelope proteins not only impairs the epidermal barrier, but also changes the composition of T cell subpopulations in the skin.
Title: Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
analysis of evolutionary relations of the mouse based on repeats at a precise location in the coding region of the involucrin gene
Title: Systematic repeat addition at a precise location in the coding region of the involucrin gene of wild mice reveals their phylogeny.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in peptide cross-linking	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of antibacterial peptide production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to UV-B	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cornified envelope	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nuclear body	ISO Inferred from Sequence Orthology 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.