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    TJP3 tight junction protein 3 [ Homo sapiens (human) ]

    Gene ID: 27134, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TJP3provided by HGNC
    Official Full Name
    tight junction protein 3provided by HGNC
    Primary source
    HGNC:HGNC:11829
    See related
    Ensembl:ENSG00000105289 MIM:612689; AllianceGenome:HGNC:11829
    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
    ZO3; ZO-3
    Summary
    The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]
    Expression
    Biased expression in colon (RPKM 22.4), duodenum (RPKM 17.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3708384..3750813)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3686785..3730065)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3708382..3750811)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CACTIN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3618043-3618915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3623949-3624450 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3624451-3624950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3625177-3625738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3625739-3626300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:3626301-3626862 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3643569-3644108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3644109-3644646 Neighboring gene MPRA-validated peak3250 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3665265-3666095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3672153-3672828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3673765-3674558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3675389-3675890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3679833-3680333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3681521-3682070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3682071-3682618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3682619-3683168 Neighboring gene Sharpr-MPRA regulatory region 323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13743 Neighboring gene Sharpr-MPRA regulatory region 5698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3699523-3700306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3707827-3708490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3708491-3709152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3709988-3710533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3712547-3713048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3713049-3713548 Neighboring gene MPRA-validated peak3252 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3761575-3761892 Neighboring gene uncharacterized LOC105372248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13744 Neighboring gene amyloid beta precursor protein binding family A member 3 Neighboring gene mitochondrial ribosomal protein L54

    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. Long non‑coding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR‑1321 and regulating tight junction protein 3 expression. Luo M, et al. Mol Med Rep, 2020 Oct. PMID 32945443, Free PMC Article
    2. The carboxyl terminus of zona occludens-3 binds and recruits a mammalian homologue of discs lost to tight junctions. Roh MH, et al. J Biol Chem, 2002 Jul 26. PMID 12021270
    3. Protein interactions at the tight junction. Actin has multiple binding partners, and ZO-1 forms independent complexes with ZO-2 and ZO-3. Wittchen ES, et al. J Biol Chem, 1999 Dec 3. PMID 10575001
    4. Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation. Capaldo CT, et al. Mol Biol Cell, 2011 May 15. PMID 21411630, Free PMC Article
    5. Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NACos). Aho S, et al. Biol Cell, 2009 Jun. PMID 18823282

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TJP3 promotes T cell immunity escape and chemoresistance in breast cancer: a comprehensive analysis of anoikis-based prognosis prediction and drug sensitivity stratification.
      Title: TJP3 promotes T cell immunity escape and chemoresistance in breast cancer: a comprehensive analysis of anoikis-based prognosis prediction and drug sensitivity stratification.
    2. Long noncoding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR1321 and regulating tight junction protein 3 expression.
      Title: Long non‑coding RNA NEAT1 promotes ovarian cancer cell invasion and migration by interacting with miR‑1321 and regulating tight junction protein 3 expression.
    3. Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation
      Title: Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation.
    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

    • MGC119546

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cell adhesion molecule 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 cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of endothelial intestinal barrier IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of blood-brain barrier permeability IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cell-cell junction 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 cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    tight junction protein ZO-3
    Names
    tight junction protein 3 (zona occludens 3)
    zona occludens protein 3
    zonula occludens protein 3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001267560.2 → NP_001254489.1  tight junction protein ZO-3 isoform 1

      See identical proteins and their annotated locations for NP_001254489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.
      Source sequence(s)
      AK091118, AK128237, AL555606, BM981999, DB079164
      Consensus CDS
      CCDS32873.2
      UniProtKB/Swiss-Prot
      A6NFP3, B3KR73, B3KXZ0, B4E2W6, F5H2X0, F5H4S9, K7EK22, O95049, Q32N01
      UniProtKB/TrEMBL
      Q2VPE5
      Related
      ENSP00000439278.1, ENST00000541714.7
      Conserved Domains (4) summary
      cd12028
      Location:476 → 546
      SH3_ZO-3; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 3
      smart00072
      Location:588 → 764
      GuKc; Guanylate kinase homologues
      cd00992
      Location:10 → 90
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:619 → 763
      Guanylate_kin; Guanylate kinase

    2. NM_001267561.2 → NP_001254490.1  tight junction protein ZO-3 isoform 2

      See identical proteins and their annotated locations for NP_001254490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1, which results in a protein (isoform 2) with a longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091118, AK128237, BM981999, DB079164
      Consensus CDS
      CCDS59332.1
      UniProtKB/TrEMBL
      Q2VPE5
      Related
      ENSP00000465419.1, ENST00000589378.5
      Conserved Domains (4) summary
      cd12028
      Location:485 → 555
      SH3_ZO-3; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 3
      smart00072
      Location:597 → 773
      GuKc; Guanylate kinase homologues
      cd00992
      Location:19 → 99
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00625
      Location:628 → 772
      Guanylate_kin; Guanylate kinase

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3708384..3750813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438611.1 → XP_047294567.1  tight junction protein ZO-3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3686785..3730065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320551.1 → XP_054176526.1  tight junction protein ZO-3 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014428.1: Suppressed sequence

      Description
      NM_014428.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95049.3 GenPept UniProtKB/Swiss-Prot:O95049

    Gene LinkOut

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

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