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

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; 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

Location:: 19p13.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3708384..3750813)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3686785..3730065)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3708382..3750811)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation
Title: Tight function zonula occludens-3 regulates cyclin D1-dependent cell proliferation.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78751 (e-PCR)
- UniSTS:5723

RH103039 (e-PCR)
- UniSTS:97373

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)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

3708384..3750813

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q2VPE5

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

3686785..3730065

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q2VPE5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.