Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CLDN1 (claudin 1)

Identity

Alias_symbol (synonym)SEMP1
ILVASC
Other aliasCLD1
HGNC (Hugo) CLDN1
LocusID (NCBI) 9076
Atlas_Id 46335
Location 3q28  [Link to chromosome band 3q28]
Location_base_pair Starts at 190305701 and ends at 190322446 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLDN1 (3q28) / C3 (19p13.3)CLDN1 (3q28) / PARD3 (10p11.22)FADS1 (11q12.2) / CLDN1 (3q28)
PARD3 (10p11.22) / CLDN1 (3q28)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CLDN1   2032
Cards
Entrez_Gene (NCBI)CLDN1  9076  claudin 1
AliasesCLD1; ILVASC; SEMP1
GeneCards (Weizmann)CLDN1
Ensembl hg19 (Hinxton)ENSG00000163347 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163347 [Gene_View]  chr3:190305701-190322446 [Contig_View]  CLDN1 [Vega]
ICGC DataPortalENSG00000163347
TCGA cBioPortalCLDN1
AceView (NCBI)CLDN1
Genatlas (Paris)CLDN1
WikiGenes9076
SOURCE (Princeton)CLDN1
Genetics Home Reference (NIH)CLDN1
Genomic and cartography
GoldenPath hg38 (UCSC)CLDN1  -     chr3:190305701-190322446 -  3q28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLDN1  -     3q28   [Description]    (hg19-Feb_2009)
EnsemblCLDN1 - 3q28 [CytoView hg19]  CLDN1 - 3q28 [CytoView hg38]
Mapping of homologs : NCBICLDN1 [Mapview hg19]  CLDN1 [Mapview hg38]
OMIM603718   607626   
Gene and transcription
Genbank (Entrez)AA484795 AF086514 AF101051 AF114837 AF115546
RefSeq transcript (Entrez)NM_021101
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLDN1
Cluster EST : UnigeneHs.439060 [ NCBI ]
CGAP (NCI)Hs.439060
Alternative Splicing GalleryENSG00000163347
Gene ExpressionCLDN1 [ NCBI-GEO ]   CLDN1 [ EBI - ARRAY_EXPRESS ]   CLDN1 [ SEEK ]   CLDN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLDN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9076
GTEX Portal (Tissue expression)CLDN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95832   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95832  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95832
Splice isoforms : SwissVarO95832
PhosPhoSitePlusO95832
Domaine pattern : Prosite (Expaxy)CLAUDIN (PS01346)   
Domains : Interpro (EBI)Claudin    Claudin1    Claudin_CS    PMP22/EMP/MP20/Claudin   
Domain families : Pfam (Sanger)PMP22_Claudin (PF00822)   
Domain families : Pfam (NCBI)pfam00822   
Conserved Domain (NCBI)CLDN1
DMDM Disease mutations9076
Blocks (Seattle)CLDN1
SuperfamilyO95832
Human Protein AtlasENSG00000163347
Peptide AtlasO95832
HPRD04760
IPIIPI00000691   IPI01010364   
Protein Interaction databases
DIP (DOE-UCLA)O95832
IntAct (EBI)O95832
FunCoupENSG00000163347
BioGRIDCLDN1
STRING (EMBL)CLDN1
ZODIACCLDN1
Ontologies - Pathways
QuickGOO95832
Ontology : AmiGOvirus receptor activity  structural molecule activity  protein binding  cytoplasm  integral component of plasma membrane  bicellular tight junction  bicellular tight junction  aging  establishment of blood-nerve barrier  response to toxic substance  integral component of membrane  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules  response to lipopolysaccharide  hyperosmotic salinity response  identical protein binding  cell-cell junction organization  response to ethanol  viral entry into host cell  protein homooligomerization  protein heterooligomerization  establishment of skin barrier  drug transport across blood-nerve barrier  response to interleukin-18  bicellular tight junction assembly  cellular response to lead ion  cellular response to interferon-gamma  cellular response to tumor necrosis factor  response to dexamethasone  cellular response to transforming growth factor beta stimulus  establishment of endothelial intestinal barrier  liver regeneration  positive regulation of bicellular tight junction assembly  cellular response to butyrate  
Ontology : EGO-EBIvirus receptor activity  structural molecule activity  protein binding  cytoplasm  integral component of plasma membrane  bicellular tight junction  bicellular tight junction  aging  establishment of blood-nerve barrier  response to toxic substance  integral component of membrane  basolateral plasma membrane  apical plasma membrane  lateral plasma membrane  calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules  response to lipopolysaccharide  hyperosmotic salinity response  identical protein binding  cell-cell junction organization  response to ethanol  viral entry into host cell  protein homooligomerization  protein heterooligomerization  establishment of skin barrier  drug transport across blood-nerve barrier  response to interleukin-18  bicellular tight junction assembly  cellular response to lead ion  cellular response to interferon-gamma  cellular response to tumor necrosis factor  response to dexamethasone  cellular response to transforming growth factor beta stimulus  establishment of endothelial intestinal barrier  liver regeneration  positive regulation of bicellular tight junction assembly  cellular response to butyrate  
Pathways : KEGGCell adhesion molecules (CAMs)    Tight junction    Leukocyte transendothelial migration    Pathogenic Escherichia coli infection    Hepatitis C   
NDEx NetworkCLDN1
Atlas of Cancer Signalling NetworkCLDN1
Wikipedia pathwaysCLDN1
Orthology - Evolution
OrthoDB9076
GeneTree (enSembl)ENSG00000163347
Phylogenetic Trees/Animal Genes : TreeFamCLDN1
HOVERGENO95832
HOGENOMO95832
Homologs : HomoloGeneCLDN1
Homology/Alignments : Family Browser (UCSC)CLDN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLDN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLDN1
dbVarCLDN1
ClinVarCLDN1
1000_GenomesCLDN1 
Exome Variant ServerCLDN1
ExAC (Exome Aggregation Consortium)CLDN1 (select the gene name)
Genetic variants : HAPMAP9076
Genomic Variants (DGV)CLDN1 [DGVbeta]
DECIPHERCLDN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLDN1 
Mutations
ICGC Data PortalCLDN1 
TCGA Data PortalCLDN1 
Broad Tumor PortalCLDN1
OASIS PortalCLDN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLDN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLDN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CLDN1
DgiDB (Drug Gene Interaction Database)CLDN1
DoCM (Curated mutations)CLDN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLDN1 (select a term)
intoGenCLDN1
Cancer3DCLDN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603718    607626   
Orphanet10788   
MedgenCLDN1
Genetic Testing Registry CLDN1
NextProtO95832 [Medical]
TSGene9076
GENETestsCLDN1
Target ValidationCLDN1
Huge Navigator CLDN1 [HugePedia]
snp3D : Map Gene to Disease9076
BioCentury BCIQCLDN1
ClinGenCLDN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9076
Chemical/Pharm GKB GenePA26557
Clinical trialCLDN1
Miscellaneous
canSAR (ICR)CLDN1 (select the gene name)
Probes
Litterature
PubMed193 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLDN1
EVEXCLDN1
GoPubMedCLDN1
iHOPCLDN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:28:36 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.