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

Gene ID: 27134, updated on 26-Nov-2021

Summary

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
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

See TJP3 in Genome Data Viewer
Location:
19p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (3708384..3750813)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3708382..3750811)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Neighboring gene Sharpr-MPRA regulatory region 323 Neighboring gene Sharpr-MPRA regulatory region 5698 Neighboring gene uncharacterized LOC105372248 Neighboring gene amyloid beta precursor protein binding family A member 3 Neighboring gene mitochondrial ribosomal protein L54

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in cell-cell junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in establishment of endothelial intestinal barrier IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in protein localization to cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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_001267560.2NP_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
    O95049
    Related
    ENSP00000439278.1, ENST00000541714.7
    Conserved Domains (4) summary
    cd12028
    Location:476546
    SH3_ZO-3; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 3
    smart00072
    Location:588764
    GuKc; Guanylate kinase homologues
    cd00992
    Location:1090
    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:619763
    Guanylate_kin; Guanylate kinase
  2. NM_001267561.2NP_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/Swiss-Prot
    O95049
    Related
    ENSP00000465419.1, ENST00000589378.5
    Conserved Domains (4) summary
    cd12028
    Location:485555
    SH3_ZO-3; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 3
    smart00072
    Location:597773
    GuKc; Guanylate kinase homologues
    cd00992
    Location:1999
    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:628772
    Guanylate_kin; Guanylate kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

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.
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