CLDN1 (claudin 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9076
Gene name Claudin 1
Gene symbol CLDN1
Synonyms (NCBI Gene)
CLD1ILVASCSEMP1
Chromosome 3
Chromosome location 3q28
Summary 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.
94
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603718 2032 ENSG00000163347
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
33
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neonatal ichthyosis-sclerosing cholangitis syndrome Pathogenic; Likely pathogenic rs773766654, rs864309516, rs864309517, rs1402621591 RCV001780515
RCV000006461
RCV000006462
RCV003985973
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Uncertain significance rs56271702, rs889173810 RCV005923484
RCV005901883
Cholangiocarcinoma Benign rs56271702 RCV005923488
CLDN1-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign rs763674205, rs141961866, rs145197251, rs914124356, rs778676405, rs2473899085, rs1406310131, rs529377941, rs2473916266, rs1716937344, rs2473893937, rs1168177985, rs188286992, rs373107390 RCV004752083
RCV003930147
RCV003957502
RCV003402843
RCV003893344
RCV003982629
RCV003901412
RCV003897170
RCV003959803
RCV003951521
RCV003983657
RCV003969692
RCV003969071
RCV003420297
Colon adenocarcinoma Benign rs56271702 RCV005923481
Show/Hide Text Mining Associations (164)
Associations from Text MiningDisease 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