CLDN1 - claudin 1 Gene

Homo sapiens

Also known as CLD1; SEMP1; ILVASC

Gene ID: 9076 | Gene type: protein coding

About CLDN1

Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:190,305,707-190,322,446 (from NCBI)

This gene has 2 transcripts (splice variants), 245 orthologues, 22 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 138.8), liver (RPKM 107.2) and 6 other tissues.

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. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]

CLDN1 Products(1)

mRNA	Protein	Name
NM_021101.5	NP_066924.1	claudin-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25849148	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20375010	GOA
enables virus receptor activity	IMP IMP: Inferred from mutant phenotype	20375010	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	25849148	GOA
acts upstream of or within cell-cell junction organization	IMP IMP: Inferred from mutant phenotype	20164257	GOA
involved in establishment of skin barrier	IMP IMP: Inferred from mutant phenotype	23407391	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	28412298	GOA
involved in positive regulation of epithelial cell proliferation involved in wound healing	IMP IMP: Inferred from mutant phenotype	28412298	GOA
involved in positive regulation of wound healing	IMP IMP: Inferred from mutant phenotype	28412298	GOA
involved in protein complex oligomerization	IDA IDA: Inferred from direct assay	23704991	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	20375010	GOA
located in bicellular tight junction	IDA IDA: Inferred from direct assay	20375010	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11090614	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	23407391	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	25849148	GOA
located in tight junction	IDA IDA: Inferred from direct assay	30734065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLDN1 Protein Structure

PMP22_Claudin

0
100
211 a.a.

Protein Preferred Names

Protein Names

claudin-1

senescence-associated epithelial membrane protein 1

Related Diseases

Diseases

Alias

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis

Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Nisch Syndrome
ILVASC	Ichthyosis-Sclerosing Cholangitis Syndrome
Ihsc	Ichthyosis-Hypotrichosis-Sclerosing Cholangitis Syndrome
Ichthyosis-Sclerosing Cholangitis Neonatal Syndrome	NISCH
Ichthyosis With Leukocyte Vacuoles, Alopecia And Sclerosing Cholangitis

Sclerosing Cholangitis

Fibrosing Cholangitis	Cholangitis, Sclerosing
Primary Sclerosing Cholangitis

Cholangitis

Acute Cholangiolitis	Ascending Cholangitis
Cholangiolitis	Cholangitis Nos
Chronic Cholangiolitis	Hepatic Duct Inflammation
Acute Cholangitis	Bile Duct Inflammation

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Alopecia

Adenocarcinoma In Situ

Sclerosing Cholangitis, Neonatal

NSC

Perineurioma

Soft Tissue Perineurioma

Hepatitis C Virus

Hepatitis C Virus, Susceptibility To	Hepatitis C Virus Infection, Response To Therapy Of
Hcv	Hcv, Susceptibility To
Hepatitis C Virus, Resistance To	Hepatitis C Virus, Response To Therapy Of
Resistance To Hepatitis C Virus

Dengue Virus

Dengue Virus, Susceptibility To	Dengue Fever, Protection Against
Dengue Fever

Meckel Diverticulum

Meckel'S Diverticulum

Persistent Vitelline Duct

Prostate Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Prostate

Primary Prostate Urothelial Carcinoma

Hypotrichosis

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal Glomerulosclerosis
Fsgs	Segmental Glomerulosclerosis
Glomerulosclerosis, Focal Segmental	Fgs
Focal Glomerular Sclerosis	Familial Idiopathic Nephrotic Syndrome
Focal Sclerosis With Hyalinosis	Glomerulosclerosis, Focal
Glomerulosclerosis Focal	Glomerulosclerosis, Segmental, Focal
Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02762	CLDN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CLDN1	VGNC	VGNC:27402
Canis familiaris	CLDN1	VGNC	VGNC:39308
Macaca mulatta	CLDN1	VGNC	VGNC:71242
Felis catus	CLDN1	VGNC	VGNC:102670
Rattus norvegicus	CLDN1	RGD	RGD:68422
Mus musculus	CLDN1	MGD	MGI:1276109
Macaca fascicularis	CLDN1	NCBI	NCBI:102136275
Others	CLDN1	NCBI

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