CLDN1 - claudin 1 Gene

Also Known as CLD1; SEMP1; ILVASC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9076

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	References	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	References	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	References	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
200
211 a.a.

Protein Preferred Names	Protein Names
claudin-1	senescence-associated epithelial membrane protein 1

CLDN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CLDN1	O95832	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Prey Pooling	32296183
Intra	CLDN1	O95832	TMEM179B	Homo sapiens	Q7Z7N9	Validated Y2H	32296183
Intra	CLDN1	O95832	TMEM179B	Homo sapiens	Q7Z7N9	Y2H Array	32296183
Intra	CLDN1	O95832	FNDC9	Homo sapiens	Q8TBE3	Validated Y2H	32296183
Intra	CLDN1	O95832	FNDC9	Homo sapiens	Q8TBE3	Y2H Prey Pooling	32296183
Intra	CLDN1	O95832	FNDC9	Homo sapiens	Q8TBE3	Y2H Array	32296183
Intra	CLDN1	O95832	MS4A3	Homo sapiens	Q96HJ5	Validated Y2H	32296183
Intra	CLDN1	O95832	MS4A3	Homo sapiens	Q96HJ5	Y2H Array	32296183
Intra	CLDN1	O95832	MS4A3	Homo sapiens	Q96HJ5	Y2H Prey Pooling	32296183
Intra	CLDN1	O95832	CD69	Homo sapiens	Q07108	Y2H Prey Pooling	32296183
Intra	CLDN1	O95832	CD69	Homo sapiens	Q07108	Validated Y2H	32296183
Intra	CLDN1	O95832	CD69	Homo sapiens	Q07108	Y2H Array	32296183
Intra	CLDN1	O95832	TMEM9	Homo sapiens	Q9P0T7	Y2H Prey Pooling	32296183
Intra	CLDN1	O95832	TMEM9	Homo sapiens	Q9P0T7	Validated Y2H	32296183
Intra	CLDN1	O95832	TMEM9	Homo sapiens	Q9P0T7	Y2H Array	32296183
Intra	CLDN1	O95832	CD79A	Homo sapiens	P11912	Validated Y2H	32296183
Intra	CLDN1	O95832	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	CLDN1	O95832	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CLDN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81222A	Claudin 1 Antibody (YA3551)	WB, IHC-P	Human, Mouse, Rat
HY-P85953	Claudin 1 Antibody (YA5645)	IHC-P, WB, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86518	Claudin 1 Antibody (YA6210)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990045	Lixudebart	Inhibitor	98.88%	Phase 2

Pre-clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991200	OM-7D3-B3	Antagonist	97.98%	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
Others	CLDN1	NCBI