• Gene id: 9076

Gene Summary

• Gene Symbol: CLDN1   Gene   UCSC   Ensembl
• Aliases: CLD1, ILVASC, SEMP1
• Gene name: claudin 1
• Alternate names: claudin-1, senescence-associated epithelial membrane protein 1,
• Gene location: 3q28 (190322445: 190305706)     Exons: 4     NC_000003.12
• Gene summary(Entrez): 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.
• OMIM: 612618

Protein Summary

• Protein general information: O95832  
  • Name: Claudin 1 (Senescence associated epithelial membrane protein)
  • Length: 211  
  • Mass: 22744
  • Tissue specificity: Strongly expressed in liver and kidney. Expressed in heart, brain, spleen, lung and testis. {ECO
• Sequence:

  MANAGLQLLGFILAFLGWIGAIVSTALPQWRIYSYAGDNIVTAQAMYEGLWMSCVSQSTGQIQCKVFDSLLNLSS
  TLQATRALMVVGILLGVIAIFVATVGMKCMKCLEDDEVQKMRMAVIGGAIFLLAGLAILVATAWYGNRIVQEFYD
  PMTPVNARYEFGQALFTGWAAASLCLLGGALLCCSCPRKTTSYPTPRPYPKPAPSSGKDYV

• Structural information:
  • Interpro: IPR006187  IPR003548  IPR017974  IPR004031  
  • Prosite: PS01346
  • STRING: ENSP00000295522
• Other Databases: GeneCards:  CLDN1  Malacards:  CLDN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051259	protein complex oligomerization	IDA	biological process
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0090303	positive regulation of wound healing	IMP	biological process
GO:0034331	cell junction maintenance	ISS	biological process
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0007155	cell adhesion	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0001618	virus receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061436	establishment of skin barrier	IMP	biological process
GO:0005887	integral component of plasma membrane	IMP	cellular component
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0001618	virus receptor activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005923	bicellular tight junction	TAS	cellular component
GO:0045216	cell-cell junction organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0034331	cell junction maintenance	IEA	biological process
GO:0070160	tight junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0008065	establishment of blood-nerve barrier	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0042538	hyperosmotic salinity response	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0061772	xenobiotic transport across blood-nerve barrier	IEA	biological process
GO:0071284	cellular response to lead ion	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071548	response to dexamethasone	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0090557	establishment of endothelial intestinal barrier	IEA	biological process
GO:1903545	cellular response to butyrate	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0070673	response to interleukin-18	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:1903348	positive regulation of bicellular tight junction assembly	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0046718	viral entry into host cell	IEA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	ISS	molecular function
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0016338	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa04514	Cell adhesion molecules
hsa05160	Hepatitis C
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Neonatal ichthyosis-sclerosing cholangitis	KEGG:H00742
Neonatal ichthyosis-sclerosing cholangitis	KEGG:H00742
Atopic dermatitis	PMID:21163515
Atopic dermatitis	PMID:21163515
Crohn's disease	PMID:21748286
Irritable bowel syndrome	PMID:25277410
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881