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Aliases for TJAP1 Gene

Aliases for TJAP1 Gene

  • Tight Junction Associated Protein 1 2 3 5
  • Tight Junction Associated Protein 1 (Peripheral) 2 3
  • Protein Incorporated Later Into Tight Junctions 3 4
  • Tight Junction Protein 4 (Peripheral) 2 3
  • TJP4 3 4
  • PILT 3 4
  • Tight Junction-Associated Protein 1 3
  • Tight Junction Protein 4 4

External Ids for TJAP1 Gene

Previous HGNC Symbols for TJAP1 Gene

  • TJP4

Previous GeneCards Identifiers for TJAP1 Gene

  • GC06P043554
  • GC06P043445
  • GC06P043163

Summaries for TJAP1 Gene

Entrez Gene Summary for TJAP1 Gene

  • This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]

GeneCards Summary for TJAP1 Gene

TJAP1 (Tight Junction Associated Protein 1) is a Protein Coding gene. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Tight junction. An important paralog of this gene is BEGAIN.

Gene Wiki entry for TJAP1 Gene

Additional gene information for TJAP1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TJAP1 Gene

Genomics for TJAP1 Gene

Regulatory Elements for TJAP1 Gene

Enhancers for TJAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H044040 2 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +565.2 565170 4 HDGF FOXA2 ARNT YBX1 FEZF1 ZNF766 ZNF548 FOS SP5 SMARCB1 ZNF318 ABCC10 CUL7 POLH GTPBP2 RPS2P29 RPL34P14 XPO5 POLR1C SLC35B2
GH06H043087 1.6 Ensembl ENCODE dbSUPER 20.1 -386.3 -386323 7 PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 SP5 NFYC ZC3H11A REST ZNF318 ABCC10 CUL7 POLR1C RPS2P29 POLH XPO5 GTPBP2 BICRAL ENSG00000271970
GH06H043925 2 FANTOM5 Ensembl ENCODE dbSUPER 12.2 +449.6 449600 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 SLC30A9 ZNF766 ZNF318 XPO5 POLR1C ENSG00000271970 POLH ABCC10 RPS2P29 TJAP1 SLC35B2 CUL7
GH06H043266 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -204.1 -204071 13 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 PAF1 POLH ZNF318 GTPBP2 POLR1C RPS2P29 ABCC10 XPO5 CUL7 UBR2 RRP36
GH06H043723 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +247.4 247385 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 ZBTB7B GTPBP2 POLH ZNF318 ABCC10 BICRAL RPS2P29 RRP36 MAD2L1BP VEGFA MRPS18A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TJAP1 on UCSC Golden Path with GeneCards custom track

Promoters for TJAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197134 177 1001 PKNOX1 ATF1 SIN3A ARID4B ZNF2 YY1 SLC30A9 ZNF766 ZNF143 RUNX3

Genomic Location for TJAP1 Gene

Chromosome:
6
Start:
43,477,523 bp from pter
End:
43,506,556 bp from pter
Size:
29,034 bases
Orientation:
Plus strand

Genomic View for TJAP1 Gene

Genes around TJAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TJAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TJAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TJAP1 Gene

Proteins for TJAP1 Gene

  • Protein details for TJAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTD0-TJAP1_HUMAN
    Recommended name:
    Tight junction-associated protein 1
    Protein Accession:
    Q5JTD0
    Secondary Accessions:
    • Q05BH9
    • Q5JTD1
    • Q5JWW1
    • Q68DB2
    • Q6P2P3
    • Q9H7V7

    Protein attributes for TJAP1 Gene

    Size:
    557 amino acids
    Molecular mass:
    61821 Da
    Quaternary structure:
    • Interacts with DLG1.

    Alternative splice isoforms for TJAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TJAP1 Gene

Post-translational modifications for TJAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TJAP1 Gene

Domains & Families for TJAP1 Gene

Gene Families for TJAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TJAP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TJAP1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TJAP1: view

No data available for UniProtKB/Swiss-Prot for TJAP1 Gene

Function for TJAP1 Gene

Phenotypes From GWAS Catalog for TJAP1 Gene

Gene Ontology (GO) - Molecular Function for TJAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15263016
genes like me logo Genes that share ontologies with TJAP1: view
genes like me logo Genes that share phenotypes with TJAP1: view

Animal Model Products

CRISPR Products

miRNA for TJAP1 Gene

miRTarBase miRNAs that target TJAP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TJAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TJAP1 Gene

Localization for TJAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TJAP1 Gene

Golgi apparatus. Cell junction, tight junction. Note=Recruited to tight junctions (TJ) during late stages of maturation of the TJ complexes. Excluded from adherens junctions and desmosomes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TJAP1 gene
Compartment Confidence
nucleus 4
golgi apparatus 4
plasma membrane 2
cytosol 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TJAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TJAP1: view

Pathways & Interactions for TJAP1 Gene

genes like me logo Genes that share pathways with TJAP1: view

Pathways by source for TJAP1 Gene

1 KEGG pathway for TJAP1 Gene

Gene Ontology (GO) - Biological Process for TJAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IEA --
genes like me logo Genes that share ontologies with TJAP1: view

No data available for SIGNOR curated interactions for TJAP1 Gene

Drugs & Compounds for TJAP1 Gene

No Compound Related Data Available

Transcripts for TJAP1 Gene

Unigene Clusters for TJAP1 Gene

Tight junction associated protein 1 (peripheral):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TJAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TJAP1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b · 10c ·
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - - - -
SP14:
SP15: - - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - -
SP18: - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - - - -
SP21: - - - - - - - -
SP22: - - - - - - - -
SP23: - - - - - -
SP24: - - - - -
SP25: - - - - - -
SP26: - - - - - - - - - - - - -
SP27: - - - - - - - - - - - - - -
SP28: - - - - - - - - - - - - -
SP29: - - - - - - - - - - - - - - - -
SP30: - - - - - - - - - - - - -
SP31: - - - - - - - - - - - - - - -
SP32: - - - - - - - - - - - - - - -
SP33: - - - - - - - - - - - - - -
SP34: - - - - - - - - - - - - - -
SP35: - - - - - -
SP36: - - - - - -
SP37: - - - - -
SP38: - - - - - - -
SP39: - - - - - - - - - - - - - - - -
SP40: - - - - - - - - - -
SP41: - - - - - - -
SP42: - - - - - - - - - - - - - - - - -
SP43: - - -
SP44:

ExUns: 10d · 10e · 10f · 10g ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - -
SP10:
SP11: - - - - - -
SP12: - - - - -
SP13: - - - - -
SP14: - - - - -
SP15: - - - - -
SP16: - - - - -
SP17:
SP18:
SP19:
SP20: - - - -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:
SP38:
SP39:
SP40:
SP41:
SP42:
SP43:
SP44:

Relevant External Links for TJAP1 Gene

GeneLoc Exon Structure for
TJAP1
ECgene alternative splicing isoforms for
TJAP1

Expression for TJAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TJAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TJAP1 Gene

This gene is overexpressed in Adrenal (29.3) and Peripheral blood mononuclear cells (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TJAP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TJAP1 Gene:

TJAP1

SOURCE GeneReport for Unigene cluster for TJAP1 Gene:

Hs.520145

mRNA Expression by UniProt/SwissProt for TJAP1 Gene:

Q5JTD0-TJAP1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for TJAP1 Gene

  • Muscle(4.3)
  • Liver(4.2)
  • Skin(4.2)
  • Nervous system(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with TJAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TJAP1 Gene

Orthologs for TJAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TJAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TJAP1 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia TJAP1 33 34
  • 88.55 (n)
cow
(Bos Taurus)
Mammalia TJAP1 33 34
  • 88.03 (n)
rat
(Rattus norvegicus)
Mammalia Tjap1 33
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Tjap1 33 16 34
  • 82.99 (n)
oppossum
(Monodelphis domestica)
Mammalia TJAP1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TJAP1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TJAP1 33 34
  • 67.52 (n)
lizard
(Anolis carolinensis)
Reptilia TJAP1 34
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC566060 33
  • 64.95 (n)
tjap1 34
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42324 34
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for TJAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TJAP1 Gene

ENSEMBL:
Gene Tree for TJAP1 (if available)
TreeFam:
Gene Tree for TJAP1 (if available)

Paralogs for TJAP1 Gene

Paralogs for TJAP1 Gene

(1) SIMAP similar genes for TJAP1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for TJAP1 Gene

genes like me logo Genes that share paralogs with TJAP1: view

Variants for TJAP1 Gene

Sequence variations from dbSNP and Humsavar for TJAP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000001073 -- 43,502,838(+) TGATG(A/T)CTCCA intron-variant
rs1000379983 -- 43,479,314(+) AACAA(C/T)CCAAG intron-variant
rs1000400297 -- 43,489,710(+) CCTGA(A/G)GTCAG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000412669 -- 43,478,987(+) TAGTT(G/T)TTTTC intron-variant
rs1000579960 -- 43,490,871(+) GGTGC(A/G)TGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TJAP1 Gene

Variant ID Type Subtype PubMed ID
esv2731999 CNV deletion 23290073
esv3346999 CNV duplication 20981092
nsv603000 CNV loss 21841781
nsv950173 CNV deletion 24416366

Variation tolerance for TJAP1 Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TJAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TJAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TJAP1 Gene

Disorders for TJAP1 Gene

Relevant External Links for TJAP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TJAP1

No disorders were found for TJAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TJAP1 Gene

Publications for TJAP1 Gene

  1. Pilt, a novel peripheral membrane protein at tight junctions in epithelial cells. (PMID: 11602598) Kawabe H … Takai Y (The Journal of biological chemistry 2001) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for TJAP1 Gene

Sources for TJAP1 Gene

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