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CLDN1 claudin 1 [ Homo sapiens (human) ]

Gene ID: 9076, updated on 4-May-2020

Summary

Official Symbol
CLDN1provided by HGNC
Official Full Name
claudin 1provided by HGNC
Primary source
HGNC:HGNC:2032
See related
Ensembl:ENSG00000163347 MIM:603718
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLD1; SEMP1; ILVASC
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]
Expression
Biased expression in skin (RPKM 138.8), liver (RPKM 107.2) and 6 other tissues See more
Orthologs

Genomic context

See CLDN1 in Genome Data Viewer
Location:
3q28
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (190305707..190322446, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (190023490..190040235, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1109, pseudogene Neighboring gene NMNAT1 pseudogene 3 Neighboring gene claudin 16 Neighboring gene Sharpr-MPRA regulatory region 14389 Neighboring gene transmembrane protein 207

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neonatal ichthyosis-sclerosing cholangitis syndrome
MedGen: C1843355 OMIM: 607626 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
Tat tat HIV-1 Tat disrupts and downregulates the tight-junction proteins claudin-1, claudin-3, and claudin-4 in retinal pigment epithelial cells, whereas claudin-2 is upregulated PubMed
tat Exposure of brain micro vascular endothelial cells to HIV-1 Tat results in a decrease of claudin-1, claudin-5, and zonula occludens-2 expression and cellular redistribution of claudin-5, suggesting potential disturbance of the blood-brain barrier by Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
virus receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to butyrate IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
cellular response to lead ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
drug transport across blood-nerve barrier IEA
Inferred from Electronic Annotation
more info
 
establishment of blood-nerve barrier IEA
Inferred from Electronic Annotation
more info
 
establishment of endothelial intestinal barrier IEA
Inferred from Electronic Annotation
more info
 
establishment of skin barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
hyperosmotic salinity response IEA
Inferred from Electronic Annotation
more info
 
liver regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bicellular tight junction assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial cell proliferation involved in wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
response to dexamethasone IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to interleukin-18 IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021418.1 RefSeqGene

    Range
    5001..21740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021101.5NP_066924.1  claudin-1

    See identical proteins and their annotated locations for NP_066924.1

    Status: REVIEWED

    Source sequence(s)
    AC009520, AY358652, DA907275
    Consensus CDS
    CCDS3295.1
    UniProtKB/Swiss-Prot
    O95832
    UniProtKB/TrEMBL
    A5JSJ9
    Related
    ENSP00000295522.3, ENST00000295522.4
    Conserved Domains (1) summary
    pfam00822
    Location:5173
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    190305707..190322446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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