Human Gene TJP1 (ENST00000346128.10) from GENCODE V44
Description: Homo sapiens tight junction protein 1 (TJP1), transcript variant 1, mRNA. (from RefSeq NM_003257) RefSeq Summary (NM_003257): This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]. Gencode Transcript: ENST00000346128.10 Gencode Gene: ENSG00000104067.17 Transcript (Including UTRs) Position: hg38 chr15:29,699,367-29,822,503 Size: 123,137 Total Exon Count: 28 Strand: - Coding Region Position: hg38 chr15:29,701,595-29,822,028 Size: 120,434 Coding Exon Count: 28
ID:ZO1_HUMAN DESCRIPTION: RecName: Full=Tight junction protein ZO-1; AltName: Full=Tight junction protein 1; AltName: Full=Zona occludens protein 1; AltName: Full=Zonula occludens protein 1; FUNCTION: The N-terminal may be involved in transducing a signal required for tight junction assembly, while the C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells. SUBUNIT: Interacts with BVES (via the C-terminus cytoplasmic tail). Interacts with HSPA4 and KIRREL1 (By similarity). Homodimer, and heterodimer with TJP2/ZO-2 and TJP3/ZO-3. Interacts with OCLN, CALM, claudins, CGN/cingulin, CXADR, GJA12, GJD3 and UBN1. Interacts (via ZU5 domain) with CDC42BPB and MYZAP. Interacts (via PDZ domain) with GJA1. INTERACTION: O43707:ACTN4; NbExp=4; IntAct=EBI-79553, EBI-351526; Q8N144:GJD3; NbExp=2; IntAct=EBI-79553, EBI-2629520; SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction. Cell junction. Cell junction, gap junction. Note=Moves from the cytoplasm to the cell membrane concurrently with cell-cell contact. Detected at the leading edge of migrating and wounded cells. TISSUE SPECIFICITY: The alpha-containing isoform is found in most epithelial cell junctions. The short isoform is found both in endothelial cells and the highly specialized epithelial junctions of renal glomeruli and Sertoli cells of the seminiferous tubules. DOMAIN: The second PDZ domain mediates interaction with GJA12 (By similarity). PTM: Phosphorylated. Dephosphorylated by PTPRJ. SIMILARITY: Belongs to the MAGUK family. SIMILARITY: Contains 1 guanylate kinase-like domain. SIMILARITY: Contains 3 PDZ (DHR) domains. SIMILARITY: Contains 1 SH3 domain. SIMILARITY: Contains 1 ZU5 domain. SEQUENCE CAUTION: Sequence=AAA02891.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tjp1/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q07157
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.