Cldn1 claudin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cldn1provided by MGI
Official Full Name: claudin 1provided by MGI
Primary source: MGI:MGI:1276109
See related: Ensembl:ENSMUSG00000022512 AllianceGenome:MGI:1276109
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The knockout mice lacking this gene die soon after birth as a consequence of dehydration from trandermal water loss, indicating that this gene is indispensable for creating and maintaining the epidermal barrier. The protein encoded by this gene also has gastric tumor suppressive activity, and is a key factor for hepatitis C virus (HCV) entry. [provided by RefSeq, Aug 2010]
Expression: Biased expression in liver E18 (RPKM 82.6), liver adult (RPKM 15.9) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B2; 16 18.0 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (26175395..26190589, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (26356645..26371839, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Loss of Claudin-1 incurred by DNMT aberration promotes pancreatic cancer progression.
Title: Loss of Claudin-1 incurred by DNMT aberration promotes pancreatic cancer progression.
Transglutaminase-2 is critical for corneal epithelial barrier function via positive regulation of Claudin-1.
Title: Transglutaminase-2 is critical for corneal epithelial barrier function via positive regulation of Claudin-1.
Double mutation of claudin-1 and claudin-3 causes alopecia in infant mice.
Title: Double mutation of claudin-1 and claudin-3 causes alopecia in infant mice.
Identification and characterization of a first-generation inhibitor of claudin-1 in colon cancer progression and metastasis.
Title: Identification and characterization of a first-generation inhibitor of claudin-1 in colon cancer progression and metastasis.
A monoclonal antibody targeting nonjunctional claudin-1 inhibits fibrosis in patient-derived models by modulating cell plasticity.
Title: A monoclonal antibody targeting nonjunctional claudin-1 inhibits fibrosis in patient-derived models by modulating cell plasticity.
Claudin-1 Mediated Tight Junction Dysfunction as a Contributor to Atopic March.
Title: Claudin-1 Mediated Tight Junction Dysfunction as a Contributor to Atopic March.
Inhibition of glycogen synthase kinase 3beta improves cognitive function in aged mice by upregulating claudin presences in cerebral endothelial cells.
Title: Inhibition of glycogen synthase kinase 3β improves cognitive function in aged mice by upregulating claudin presences in cerebral endothelial cells.
Holocrine Secretion Occurs outside the Tight Junction Barrier in Multicellular Glands: Lessons from Claudin-1-Deficient Mice.
Title: Holocrine Secretion Occurs outside the Tight Junction Barrier in Multicellular Glands: Lessons from Claudin-1-Deficient Mice.
eosinophilic esophagitis (EoE) patient biopsy analysis identified a repressed HIF-1alpha/claudin-1 axis, which was restored via pharmacologic HIF-1alpha stabilization ex vivo. Collectively, these studies reveal HIF-1alpha's critical role in maintaining barrier and highlight the HIF-1alpha/claudin-1 axis as a potential therapeutic target for EoE.
Title: Epithelial HIF-1α/claudin-1 axis regulates barrier dysfunction in eosinophilic esophagitis.
claudin-1 is incorporated in blood-brain barrier tight junction complex, impeding blood-brain barrier recovery and causing blood-brain barrier leakiness during poststroke recovery
Title: Claudin-1-Dependent Destabilization of the Blood-Brain Barrier in Chronic Stroke.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

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Alleles

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

Targeted (5) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI596271 (e-PCR)
- UniSTS:165986

Cldn1 (e-PCR), detects polymorphism
- UniSTS:545917

Cldn1 (e-PCR), detects polymorphism
- UniSTS:465373

AF072127 (e-PCR)
- UniSTS:163569

Cldn1 (e-PCR), detects polymorphism
- UniSTS:495867

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info
enables virus receptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell junction maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell junction organization	ISO Inferred from Sequence Orthology more info
involved_in establishment of blood-nerve barrier	ISO Inferred from Sequence Orthology more info
involved_in establishment of endothelial intestinal barrier	ISO Inferred from Sequence Orthology more info
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell proliferation involved in wound healing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of wound healing	ISO Inferred from Sequence Orthology more info
involved_in protein complex oligomerization	ISO Inferred from Sequence Orthology more info
involved_in response to interleukin-18	ISO Inferred from Sequence Orthology more info
involved_in xenobiotic transport across blood-nerve barrier	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	TAS Traceable Author Statement more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in tight junction	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: claudin-1

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.