CLDN1 (claudin 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9076
Gene name Gene Name - the full gene name approved by the HGNC.
Claudin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLDN1
Synonyms (NCBI Gene) Gene synonyms aliases
CLD1, ILVASC, SEMP1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q28
Summary Summary of gene provided in NCBI Entrez Gene.
Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(94)
miRTarBase ID miRNA Experiments Reference
MIRT001558 hsa-miR-155-5p pSILAC 18668040
MIRT017510 hsa-miR-335-5p Microarray 18185580
MIRT019768 hsa-miR-375 Microarray 20215506
MIRT001558 hsa-miR-155-5p Proteomics;Other 18668040
MIRT048360 hsa-miR-29b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(59)
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0001618 Function Virus receptor activity IMP 20375010
GO:0005198 Function Structural molecule activity IEA
GO:0005515 Function Protein binding IPI 20375010, 25323998, 25849148, 26607202, 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603718 2032 ENSG00000163347
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95832
Protein name Claudin-1 (Senescence-associated epithelial membrane protein)
Protein function Claudins function as major constituents of the tight junction complexes that regulate the permeability of epithelia. While some claudin family members play essential roles in the formation of impermeable barriers, others mediate the permeability
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 4 → 182 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis. {ECO:0000269|PubMed:9931503}.
Sequence
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ichthyosis-Sclerosing Cholangitis Syndrome neonatal ichthyosis-sclerosing cholangitis syndrome rs864309516, rs864309517 N/A
Show/Hide Text Mining Associations (164)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17585317, 22408413, 23591077, 27687058
Adenocarcinoma Follicular Associate 36579982, 37203104
Adenocarcinoma in Situ Associate 23591077
Adenocarcinoma Mucinous Associate 18756604
Adenocarcinoma of Lung Associate 23591077, 27766775, 27819672, 29524521, 32824620
Adenoma Associate 17962811, 22408413, 30938860, 36579982, 37203104
Adenoma Stimulate 18711353
Ameloblastoma Associate 31473941
Asthma Associate 37964516
Atherosclerosis Stimulate 28901429