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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
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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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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

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