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    CGN cingulin [ Homo sapiens (human) ]

    Gene ID: 57530, updated on 7-Apr-2024

    Summary

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    Official Symbol
    CGNprovided by HGNC
    Official Full Name
    cingulinprovided by HGNC
    Primary source
    HGNC:HGNC:17429
    See related
    Ensembl:ENSG00000143375 MIM:609473; AllianceGenome:HGNC:17429
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables cadherin binding activity. Predicted to act upstream of or within bicellular tight junction assembly; epithelial cell morphogenesis; and microtubule cytoskeleton organization. Located in bicellular tight junction and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in small intestine (RPKM 30.7), duodenum (RPKM 28.7) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q21.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151510170..151538692)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150633864..150662396)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151483863..151511168)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151371406-151372128 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151372129-151372850 Neighboring gene proteasome 20S subunit beta 4 Neighboring gene pogo transposable element derived with ZNF domain Neighboring gene Sharpr-MPRA regulatory region 7521 Neighboring gene RNY4 pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151476367-151476867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151482940-151483516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151483517-151484092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151485246-151485822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151485823-151486398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151495500-151496035 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:151495990-151497189 Neighboring gene small nucleolar RNA SNORA44 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151511530-151512046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151512562-151513077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151513078-151513592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151519404-151519922 Neighboring gene tuftelin 1 Neighboring gene microRNA 554 Neighboring gene ribosomal protein S10 pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Role of Cingulin in Agonist-induced Vascular Endothelial Permeability. Tian Y, et al. J Biol Chem, 2016 Nov 4. PMID 27590342, Free PMC Article
    2. Tight junctions of the blood-brain barrier: development, composition and regulation. Wolburg H, et al. Vascul Pharmacol, 2002 Jun. PMID 12529927
    3. miR-1270 enhances the proliferation, migration, and invasion of osteosarcoma via targeting cingulin. Liu Y, et al. Eur J Histochem, 2021 Dec 7. PMID 34873899, Free PMC Article
    4. Phosphorylated cingulin localises GEF-H1 at tight junctions to protect vascular barriers in blood endothelial cells. Holzner S, et al. J Cell Sci, 2021 Sep 1. PMID 34345888, Free PMC Article
    5. Interaction of junctional adhesion molecule with the tight junction components ZO-1, cingulin, and occludin. Bazzoni G, et al. J Biol Chem, 2000 Jul 7. PMID 10877843

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Roles and Regulatory Mechanisms of Tight Junction Protein Cingulin and Transcription Factor Forkhead Box Protein O1 in Human Lung Adenocarcinoma A549 Cells and Normal Lung Epithelial Cells.
      Title: The Roles and Regulatory Mechanisms of Tight Junction Protein Cingulin and Transcription Factor Forkhead Box Protein O1 in Human Lung Adenocarcinoma A549 Cells and Normal Lung Epithelial Cells.
    2. Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
      Title: Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
    3. miR-1270 enhances the proliferation, migration, and invasion of osteosarcoma <em>via</em> targeting cingulin.
      Title: miR-1270 enhances the proliferation, migration, and invasion of osteosarcoma <em>via</em> targeting cingulin.
    4. Phosphorylated cingulin localises GEF-H1 at tight junctions to protect vascular barriers in blood endothelial cells.
      Title: Phosphorylated cingulin localises GEF-H1 at tight junctions to protect vascular barriers in blood endothelial cells.
    5. Down-regulation of Cingulin Augments Thrombin-induced Endothelial Barrier Disruption.
      Title: Role of Cingulin in Agonist-induced Vascular Endothelial Permeability.
    6. Cingulin modulates barrier function in endothelium.
      Title: Evidence That Cingulin Regulates Endothelial Barrier Function In Vitro and In Vivo.
    7. MgcRacGAP colocalizes with CGN and CGNL1 at TJs and forms a complex and interacts directly in vitro with CGN and CGNL1.
      Title: MgcRacGAP interacts with cingulin and paracingulin to regulate Rac1 activation and development of the tight junction barrier during epithelial junction assembly.
    8. Co-imunoprecipitation and confocal microscopy experiments also revealed the tight junction protein cingulin as a new interacting partner of Ubn-1
      Title: Identification of new interacting partners of the shuttling protein ubinuclein (Ubn-1).
    9. Results indicate that cells underwent EMT exhibited overactive TGFbeta signaling and loss of expression of the CDH1, CGN, CLDN4, and KLK10 genes as a result of hypermethylation of their corresponding promoter regions.
      Title: Smad signaling is required to maintain epigenetic silencing during breast cancer progression.
    10. Cingulin (KIAA1319 protein) is localized in the cytoplasmic domain of vertebrate epithelial tight junctions, and it interacts with other tight junction proteins such as ZO-1, and with the actomyosin cytoskeleton.
      Title: Human and Xenopus cingulin share a modular organization of the coiled-coil rod domain: predictions for intra- and intermolecular assembly.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39281, KIAA1319, DKFZp779N1112

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in bicellular tight junction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cell junction TAS
    Traceable Author Statement
    more info
    		  
    part_of myosin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    cingulin

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_020770.3 → NP_065821.1  cingulin

      See identical proteins and their annotated locations for NP_065821.1

      Status: VALIDATED

      Source sequence(s)
      AF263462, AL365436, BC146657, BC152445, BP331021, CN359389
      Consensus CDS
      CCDS999.1
      UniProtKB/Swiss-Prot
      A6H8L3, A7MD22, Q5T386, Q9NR25, Q9P2M7
      UniProtKB/TrEMBL
      B9EK46
      Related
      ENSP00000271636.7, ENST00000271636.12
      Conserved Domains (1) summary
      cl25732
      Location:368 → 1152
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151510170..151538692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245365.6 → XP_005245422.1  cingulin isoform X1

      See identical proteins and their annotated locations for XP_005245422.1

      UniProtKB/Swiss-Prot
      A6H8L3, A7MD22, Q5T386, Q9NR25, Q9P2M7
      UniProtKB/TrEMBL
      B9EK46
      Conserved Domains (1) summary
      cl25732
      Location:368 → 1152
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. XR_921902.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150633864..150662396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337817.1 → XP_054193792.1  cingulin isoform X1

      UniProtKB/Swiss-Prot
      A6H8L3, A7MD22, Q5T386, Q9NR25, Q9P2M7

    RNA

    1. XR_008486119.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2M7.3 GenPept UniProtKB/Swiss-Prot:Q9P2M7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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