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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TJP1 Gene

protein-coding GIFtS: 65
GCID: GC15M029991

tight junction protein 1

Explore 72 diseases affiliated with
TJP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tight Junction Protein 1¹ ² ³		MGC133289¹
ZO-1¹ ²		Tight Junction Protein ZO-1²
Zona Occludens Protein 1² ³		Zona Occludens 1²
Zonula Occludens Protein 1² ³		Zonula Occludens 1 Protein²
DKFZp686M05161¹		ZO1³

External Ids:	HGNC: 11827¹	Entrez Gene: 7082²	Ensembl: ENSG00000104067⁷	OMIM: 601009⁵	UniProtKB: Q07157³

Export aliases for TJP1 gene to outside databases

Previous GC identifers: GC15M025498 GC15M022747 GC15M027572 GC15M027708 GC15M027779 GC15M007657

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TJP1:

This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded

protein may be involved in signal transduction at cell-cell junctions. Two transcript variants encoding distinct

isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157

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

Gene Wiki entry for TJP1 (Tight junction protein 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TJP1 gene promoter:
Elk-1 AML1a Pbx1a AP-4 HNF-3beta E47 GATA-1 RORalpha1 Msx-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TJP1 promoter sequence

Search SABiosciences Chromatin IP Primers for TJP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TJP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q13 Ensembl cytogenetic band: 15q13.1 HGNC cytogenetic band: 15q13

TJP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TJP1 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M029991: view genomic region (about GC identifiers)

Start:	29,991,571 bp from pter	End:	30,261,068 bp from pter
Size:	269,498 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157 (See protein sequence)

Recommended Name: Tight junction protein ZO-1

Size: 1748 amino acids; 195459 Da

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

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

Sequence caution: Sequence=AAA02891.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

6/14 PDB 3D structures from and Proteopedia for TJP1 (see all 14):

2H2B (3D)

2H2C (3D)

2H3M (3D)

2JWE (3D)

2KXR (3D)

2KXS (3D)

Secondary accessions: B4E3K1 Q2NKP3 Q4ZGJ6

Alternative splicing: 2 isoforms: Q07157-1 Q07157-2 (Contains a phosphoserine at position 912)

Explore the universe of human proteins at neXtProt for TJP1: NX_Q07157

Post-translational modifications:

Phosphorylated. Dephosphorylated by PTPRJ¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q07157

TJP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_003248.3 NP_783297.2

ENSEMBL proteins:

ENSP00000281537 ENSP00000382890 ENSP00000348416 ENSP00000382887 ENSP00000441202

ENSP00000463194 ENSP00000452729 ENSP00000453334

Reactome Protein details: Q07157
Human Recombinant Protein Products:

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	Novus Biologicals TJP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TJP1

Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0005794	Golgi apparatus	--	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	TAS	--

TJP1 for ontologies About GeneDecksing

TJP1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TJP1
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	Novus Biologicals TJP1 Antibodies
	Abcam antibodies for TJP1
	Uscn Antibodies for TJP1
	ThermoFisher Antibody for TJP1

Assay Products for TJP1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TJP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TJP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TJP1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR011511 SH3_2

IPR008144 Guanylate_kin

IPR008145 Guanylate_kin/L-typ_Ca_channel

IPR001478 PDZ

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry Q07157

ProtoNet protein and cluster: Q07157

4 Blocks protein families:

IPB000906 ZU5 domain

IPB001478 PDZ/DHR/GLGF domain

IPB005417 Zona occludens protein family signature

IPB005418 Zona occludens protein ZO-1 signature

UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157

Domain: The second PDZ domain mediates interaction with GJA12 (By similarity)

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157

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

Genatlas biochemistry entry for TJP1:

tight junction (zonula occludens) protein ZO-1,also expressed in adherens junctions,200kDa,localized in the glomerulus

predominantly to points where the slit diaphragm is inserted into the lateral cell membrane of the foot process with

homology to yeast guanylate kinase and Drosophila lethal discs large tumor suppressor protein

miRNA Products:		miRTarBase miRNAs that target TJP1: hsa-mir-212 (MIRT004341)

		OriGene 3'-UTR Clone (see all 2): TJP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TJP1
		8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP1 (see all 41):
		hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-miR-429 hsa-miR-105 hsa-miR-548m hsa-miR-124 hsa-miR-506

		SwitchGear 3'UTR luciferase reporter plasmid: TJP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TJP1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TJP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 2): TJP1 (NM_003257)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TJP1
		Search LifeMap BioReagents cell lines for TJP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TJP1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16944923
GO:0005516	calmodulin binding	IEA	--
GO:0008022	protein C-terminus binding	IEA	--
GO:0019904	protein domain specific binding	IEA	--

TJP1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for TJP1:

Increased gamma-H2AX phosphory

Synthetic lethal with imatinib

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/21 super-pathways (see all 21) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sertoli-Sertoli Cell Junction Dynamics

	Sertoli-Sertoli Cell Junction Dynamics	1.00			Epithelial Tight Junctions	0.36
	Germ Cell-Sertoli Cell Junction Dynamics	0.38

Cell adhesion_Gap junctions

Cell adhesion_Gap junctions

1.00

Cell adhesion Gap junctions

0.89

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

1.00

Apoptotic execution phase

0.73

Cell adhesion Tight junctions

Cell adhesion Tight junctions

1.00

Cell adhesion_Tight junctions

0.99

Cell adhesion Endothelial cell contacts by junctional mechanisms

Cell adhesion Endothelial cell contacts by junctional mechanisms

1.00

Cell adhesion_Endothelial cell contacts by junctional mechanisms

0.97

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for TJP1

	Cell adhesion Gap junctions
	Cell adhesion Tight junctions
	Cell adhesion Endothelial cell contacts by junctional mechanisms

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TJP1

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Tight Junctions
	Germ Cell-Sertoli Cell Junction Dynamics
	Signaling in Gap Junctions
	Epithelial Adherens Junctions

2 Cell Signaling Technology (CST) Pathways for TJP1

	Cytoskeletal Signaling
	Adhesion

3 GeneGo (Thomson Reuters) Pathways for TJP1

	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Cell adhesion Tight junctions
	Cell adhesion Gap junctions

2 BioSystems Pathways for TJP1

	Nephrin/Neph1 signaling in the kidney podocyte
	E-cadherin signaling in the nascent adherens junction

5/10 Reactome Pathways for TJP1 (see all 10)

	Signaling by Hippo
	Apoptotic execution phase
	Membrane Trafficking
	c-src mediated regulation of Cx43 function and closure of gap junctions
	Regulation of gap junction activity

5 Kegg Pathways (Kegg details for TJP1):

	Adherens junction
	Tight junction
	Gap junction
	Vibrio cholerae infection
	Epithelial cell signaling in Helicobacter pylori infection

TJP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TJP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/126 Interacting proteins for TJP1 (Q07157^{1, 2, 3} ENSP00000281537⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 126)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTN4	O43707¹^,²^,³, ENSP00000252699⁴	EBI-79553,EBI-351526 MINT-3088497 MINT-3088449 MINT-3088309 MINT-2984673 I2D: score=7 STRING: ENSP00000252699
GJA1	P17302²^,³, ENSP00000282561⁴	MINT-3088474 MINT-1791009 MINT-1791038 I2D: score=5 STRING: ENSP00000282561
MAGI3	Q5TCQ9²^,³, ENSP00000304604⁴	MINT-6800622 MINT-1796870 I2D: score=1 STRING: ENSP00000304604
ACTB	P60709²^,³, ENSP00000349960⁴	MINT-2984695 I2D: score=3 STRING: ENSP00000349960
TUBA1C	Q9BQE3²^,³, ENSP00000301072⁴	MINT-2984901 I2D: score=3 STRING: ENSP00000301072

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001825	blastocyst formation	IEA	--
GO:0006915	apoptotic process	TAS	--
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	--
GO:0007043	cell-cell junction assembly	TAS	8486731
GO:0032496	response to lipopolysaccharide	IEA	--

TJP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TJP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TJP1
10/54 Novoseek chemical compound relationships for TJP1 gene (see all 54) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phalloidin	61.6	2	18587491 (1), 10075198 (1)
dextran	58.1	1	17451824 (1)
connexin 45	55.7	1	16463142 (1)
inulin	51.2	9	12547828 (3), 17991733 (2), 14500730 (1), 9628318 (1) (see all 5)
mannitol	48.1	4	12200963 (1), 10564065 (1), 9628318 (1), 10053166 (1)
dnbs	47.1	3	12839336 (1), 12393933 (1)
guanylate	44.5	8	8855257 (2), 9792688 (1), 9837755 (1), 17603117 (1) (see all 6)
fluorescein	40.3	1	16003911 (1)
cytochalasin d	40.1	3	16239402 (1), 7542259 (1), 9249502 (1)
puromycin aminonucleoside	38.3	7	15744817 (6)

Search CenterWatch for drugs/clinical trials and news about TJP1 / ZO1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TJP1 gene (2 alternative transcripts):

NM_003257.3 NM_175610.2

Unigene Cluster for TJP1:

Tight junction protein 1

Hs.743990 [show with all ESTs]

Unigene Representative Sequence: NM_003257

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000346128(uc001zcr.3 uc001zcs.3) ENST00000400011(uc001zcq.3)

ENST00000356107(uc010azl.3) ENST00000400007 ENST00000545208 ENST00000579042

ENST00000561307 ENST00000462916 ENST00000485381 ENST00000495972 ENST00000558447

ENST00000473741

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		8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP1 (see all 41):
		hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-miR-429 hsa-miR-105 hsa-miR-548m hsa-miR-124 hsa-miR-506

		SwitchGear 3'UTR luciferase reporter plasmid: TJP1 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector (see all 2): TJP1 (NM_003257)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TJP1

Additional cDNA sequence:

AB370197.1 AF035298.1 AK302971.1 AK304758.1 AK308113.1 BC036090.1 BC111712.1 BX640879.1

CR749235.1

16 DOTS entries:

DT.97793562 DT.100023505 DT.448427 DT.100733814 DT.75171262 DT.92451142 DT.95223187 DT.100824818

DT.70103941 DT.102832609 DT.95223167 DT.100824820 DT.121064408 DT.40195392 DT.92451132 DT.97803961

24/255 AceView cDNA sequences (see all 255):

BU633542 BM978291 BU618228 BU680997 BM352609 BM128872 AV727596 AI754255

AA344093 BF914630 CA392358 AW992581 BM352913 BM682741 F10936 NM_003257

AV654911 BE762729 BF116049 AI761730 AA629410 BE762725 AV728496 AA772968

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TJP1 (see all 11) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	^	16a	·	16b	^	17	^	18	^	19a	·	19b	·	19c	^
SP1:
SP2:
SP3:
SP4:																																			-		-
SP5:

ExUns:	20	^	21	^	22	^	23a	·	23b	^	24	^	25
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TJP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TJP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGGTCATT

About this image

TJP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Choroid Plexus

Early Embryo (Zygote)

Morula

8-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Morula

Morula Cells

Early Embryo

Early Embryo (Zygote)

Zygote

2-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Zygote

4-Cell Embryo

Early Embryo

Early Embryo (Zygote)

Early Embryo

Kidney

Prechondrocytic Mesenchymal Cells

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

Brain microvascular endothelial cells (Derivation of blood-...)

Mature airway epithelial cells (Directed differentia...)

Optic cup structures (Generation of strati...)

Pigmented epithelium cell monolayers (Direct differentiati...)

Retinal pigment epithelium-like cells (Generation of retina...)

Retinal pigment epithelium-like cells (Generation of photor...)

Retinal pigment epithelium-like cells (Generation of retina...)

Retinal Pigmented Epithelium

Retina-like cells (Generation of retina...)

Epithelial Podocyte-like cells (Induction of mesench...)

See TJP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TJP1

SOURCE GeneReport for Unigene cluster: Hs.743990

UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157

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

SABiosciences Expression via Pathway-Focused PCR Arrays including TJP1:

Adherens Junctions in human mouse rat

Tight Junctions in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Gap Junctions in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for TJP1 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TJP1¹	tight junction protein 1 (zona occludens 1)	77.47(n) 81.89(a)		415388 XM_413773.3 XP_413773.3
lizard (Anolis carolinensis)	Reptilia	TJP1⁶	--	76(a)	1 ↔ 1	GL343644.1(157961-194382)
African clawed frog (Xenopus laevis)	Amphibia	Xl.14146²	Xenopus laevis transcribed sequence with moderate similarity more	77.62(n)		BQ737064.1
zebrafish (Danio rerio)	Actinopterygii	57062263²	--	75.05(n)		57062263
fruit fly (Drosophila melanogaster)	Insecta	pyd³	dorsal closure guanylate cyclase	35(a)		--
worm (Caenorhabditis elegans)	Secernentea	zoo-1¹	Protein ZOO-1	45.3(n) 35.31(a)		173316 NM_001026514.2 NP_001021685.1

ENSEMBL Gene Tree for TJP1 (if available)
TreeFam Gene Tree for TJP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TJP1 gene

DLG5² TJP2² TJP3²

9 SIMAP similar genes for TJP1 using alignment to 10 protein entries: ZO1_HUMAN (see all proteins):

C11orf80 DKFZp686A1195 NSD1 DKFZp686M05161 LRTOMT ATL2

TJP2 DLG4 TJP3

TJP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182916394^1,2		--	29991965(+)	`CCAAAG/TGTGGG`	2	--	ds500¹		0	--	--	--	--
rs188771224^1,2		--	29992005(+)	`CTGGGA/GAATAA`	2	--	ds500¹		0	--	--	--	--
rs140192824^1,2	C,	--	29992063(+)	`CCCAT-/GCAGGGGT GTTTCTCCACGCAGG`	2	--	ds500¹		0	--	--	--	--
rs191674609^1,2		--	29992081(+)	`TCCACA/GCAGGG`	2	--	ds500¹		0	--	--	--	--
rs117015824^1,2	F,	--	29992219(+)	`AGGGGA/GGAAAT`	2	--	ds500¹		1		EA	120
rs45452501^1,2	C,F,	--	29992246(-)	`ACCTCG/ATCGTC`	2	--	ds500¹		6		NS NA	260
rs147528387^1,2		--	29992386(+)	`AGATTC/TAGAAA`	2	--	ut3¹		0	--	--	--	--
rs139873144^1,2		--	29992431(+)	`TCACAC/TCTAAT`	2	--	ut3¹		0	--	--	--	--
rs182915652^1,2		--	29992445(+)	`TAACAG/TAATGT`	2	--	ut3¹		0	--	--	--	--
rs41412345^1,2	C,F,H,	--	29992470(+)	`TAAACA/GGAAAT`	2	--	ut3¹		17		NS EA NA WA	1496

HapMap Linkage Disequilibrium report for TJP1 (29991571 - 30241571 bp, first 250kb of TJP1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TJP1
4 CNVs: 58711 5323 9262 4884

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TJP1 for disorders           About GeneDecksing

OMIM gene information: 601009    OMIM disorders: --

20/72 diseases for TJP1 (see all 72):    About MalaCards

sclerosing cholangitis primary sclerosing cholangitis type 1 diabetes mellitus primary biliary cirrhosis

biliary tract cancer cholangitis pulmonary neuroendocrine tumor fatty liver disease

neuroendocrine tumor squamous cell carcinoma diabetes mellitus celiac disease

lung squamous cell carcinoma brain edema synovial sarcoma urticaria

nephrosis diabetic retinopathy hypercalciuria brain ischemia

3 diseases from the University of Copenhagen DISEASES database for TJP1:

Brain edema Inflammatory bowel disease Diabetic retinopathy

10/35 Novoseek disease relationships for TJP1 gene (see all 35) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nphs1	50.2	2	11106563 (2)
tumors	23.2	39	16140936 (3), 18386163 (3), 8395056 (2), 15475928 (2) (see all 24)
celiac disease	22.2	2	16627260 (2)
inflammatory bowel diseases	21.1	1	19885626 (1)
colitis	19.9	1	9952110 (1)
encephalitis	12.8	2	10595922 (1), 11054186 (1)
colorectal carcinoma	11.6	1	12615962 (1)
necrosis	8.93	3	9249502 (1), 20020957 (1)
proteinuria	8.92	5	15744817 (2)
liver metastases	7.52	9	12708492 (2), 18386163 (2), 19117052 (1)

Export disorders for TJP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TJP1 gene, integrated from 9 sources (see all 567):
(articles sorted by number of sources associating them with TJP1)

Utopia: connect your pdf to the dynamic
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Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. (PubMed id 12023291)^{1, 2, 9} D'Atri F.... Citi S. (2002)
The tight junction protein ZO-1 is homologous to the Drosophila discs-large tumor suppressor protein of septate junctions. (PubMed id 8395056)^{1, 2, 9} Willott E....Anderson J.M. (1993)
Density-enhanced Phosphatase 1 Regulates Phosphorylation of Tight Junction Proteins and Enhances Barrier Function of Epithelial Cells. (PubMed id 19332538)^{1, 2, 9} Sallee J.L. and Burridge K. (2009)
Cdc42-dependent formation of the ZO-1/MRCKI^ complex a t the leading edge controls cell migration. (PubMed id 21240187)^{1, 2} Huo L....Zhang M. (2011)
Solution structure of the second PDZ domain of Zonula Occludens 1. (PubMed id 21387411)^{1, 2} Ji P....Shi Y. (2011)
Insights into regulated ligand binding sites from the structure of ZO-1 Src homology 3-guanylate kinase module. (PubMed id 20200156)^{1, 2} Lye M.F....Lavie A. (2010)
Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NaCos). (PubMed id 18823282)^{1, 2} Aho S.... Gruffat H. (2009)
Domain-swapped dimerization of ZO-1 PDZ2 generates specific and regulatory connexin43-binding sites. (PubMed id 18636092)^{1, 2} Chen J....Zhang M. (2008)
Domain swapping within PDZ2 is responsible for dimerization of ZO proteins. (PubMed id 17928286)^{1, 2} Fanning A.S.... Lavie A. (2007)
Comparative structural analysis of the erbin PDZ domain and the first PDZ domain of ZO-1. Insights into determinants of PDZ domain specificity. (PubMed id 16737969)^{1, 2} Appleton B.A.... Wiesmann C. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7082	HGNC: 11827	AceView: TJP1	Ensembl:ENSG00000104067	euGenes: HUgn7082
ECgene: TJP1	Kegg: 7082	H-InvDB: TJP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TJP1	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/tjp1/

Intellectual Property for TJP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TJP1 gene:
Search GeneIP for patents involving TJP1

GeneCards and IP:
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tight junction protein 1

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