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

Gene ID: 27134, updated on 26-May-2016
Official Symbol
TJP3provided by HGNC
Official Full Name
tight junction protein 3provided by HGNC
Primary source
HGNC:HGNC:11829
See related
Ensembl:ENSG00000105289 HPRD:18194; MIM:612689; Vega:OTTHUMG00000180872
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]
Orthologs
Location:
19p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (3708337..3750813)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3708335..3750811)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CACTIN antisense RNA 1 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Neighboring gene uncharacterized LOC105372247 Neighboring gene uncharacterized LOC105372248 Neighboring gene amyloid beta precursor protein binding family A member 3 Neighboring gene mitochondrial ribosomal protein L54

  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC119546

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tight junction protein ZO-3
Names
tight junction protein 3 (zona occludens 3)
zona occludens protein 3
zonula occludens protein 3

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_001267560.1NP_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, OTTHUMP00000265563, ENST00000541714, OTTHUMT00000453434
    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_001267561.1NP_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, BI547657, BM981999, DB079164
    Consensus CDS
    CCDS59332.1
    UniProtKB/Swiss-Prot
    O95049
    Related
    ENSP00000465419, OTTHUMP00000265566, ENST00000589378, OTTHUMT00000453438
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    3708337..3750813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    3707932..3750434
    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.