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Aliases for PATJ Gene

Aliases for PATJ Gene

  • PATJ, Crumbs Cell Polarity Complex Component 2 3 5
  • Inactivation-No-Afterpotential D-Like 2 3
  • Protein Associated To Tight Junctions 3 4
  • HINADL 3 4
  • INADL 3 4
  • Inactivation No After-Potential D-Like Protein 3
  • PALS1-Associated Tight Junction Protein 3
  • Pals1-Associated Tight Junction Protein 4
  • Channel-Interacting PDZ Domain Protein 3
  • Pals1-Associated Tight Junction 2
  • InaD-Like (Drosophila) 2
  • PDZ Domain Protein 3
  • InaD-Like Protein 3
  • Inadl Protein 4
  • InaD-Like 3
  • Cipp 3

External Ids for PATJ Gene

Previous HGNC Symbols for PATJ Gene

  • INADL

Summaries for PATJ Gene

Entrez Gene Summary for PATJ Gene

  • This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]

GeneCards Summary for PATJ Gene

PATJ (PATJ, Crumbs Cell Polarity Complex Component) is a Protein Coding gene. Among its related pathways are Cell junction organization and Hippo signaling pathway. An important paralog of this gene is MPDZ.

UniProtKB/Swiss-Prot for PATJ Gene

  • Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane. May regulate protein targeting, cell polarity and integrity of tight junctions. May regulate the surface expression and/or function of ASIC3 in sensory neurons. May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).

Gene Wiki entry for PATJ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PATJ Gene

Genomics for PATJ Gene

Regulatory Elements for PATJ Gene

Enhancers for PATJ 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
GH01G062194 1.4 Ensembl ENCODE dbSUPER 10.4 +454.6 454551 5.8 ELF3 ARID4B ZSCAN9 RARA ETS1 MIXL1 THAP11 PAF1 HMG20B SP5 L1TD1 PATJ GC01P062201 GC01P062196
GH01G061741 1 ENCODE 11.1 +0.2 249 2.8 ARID4B FEZF1 BRCA1 ZNF121 GLIS2 CBX5 KLF7 ZNF263 PAF1 SP3 PATJ TM2D1 PIR51379
GH01G062179 0.9 ENCODE dbSUPER 10.2 +439.6 439578 4.3 NFIB TEAD4 ZHX2 RBBP5 DPF2 ETS1 ZNF217 NFIC CTBP1 POLR2A L1TD1 KANK4 PATJ PIGPP2 GC01P062128
GH01G061746 0.7 Ensembl 11.1 +4.5 4524 0.4 MAFG BACH1 ZNF316 MAFF POLR2A SMARCA4 NFE2L1 NFE2 HNF4A EMSY PATJ TM2D1 PIR51379
GH01G061950 1.1 FANTOM5 ENCODE 6.9 +209.2 209158 2.7 CTCF NFIB TEAD4 CHD7 RAD21 TEAD3 ZNF664 ZNF316 POLR2A MAFK PATJ USP1 KANK4 GC01P061916 LAMTOR5P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PATJ on UCSC Golden Path with GeneCards custom track

Promoters for PATJ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007579 223 1801 ARID4B FEZF1 BRCA1 ZNF121 GLIS2 CBX5 ZNF263 PAF1 SP3 SP5

Genomic Location for PATJ Gene

Chromosome:
1
Start:
61,742,477 bp from pter
End:
62,178,675 bp from pter
Size:
436,199 bases
Orientation:
Plus strand

Genomic View for PATJ Gene

Genes around PATJ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PATJ Gene

Proteins for PATJ Gene

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

    Protein Symbol:
    Q8NI35-INADL_HUMAN
    Recommended name:
    InaD-like protein
    Protein Accession:
    Q8NI35
    Secondary Accessions:
    • O15249
    • O43742
    • O60833
    • Q5VUA5
    • Q5VUA6
    • Q5VUA7
    • Q5VUA8
    • Q5VUA9
    • Q5VUB0
    • Q8WU78
    • Q9H3N9

    Protein attributes for PATJ Gene

    Size:
    1801 amino acids
    Molecular mass:
    196368 Da
    Quaternary structure:
    • Interacts with ASIC3, KCNJ10, KCNJ15, GRIN2A, GRIN2B, GRIN2C, GRIN2D, NLGN2, MPP7, HTR2A and SLC6A4 (By similarity). Forms a ternary complex with MPP5, CRB1 and CRB3. Interacts with TJP3/ZO-3 and CLDN1/claudin-1. Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ and PARD3/PAR3. Directly interacts with HTR4 (By similarity). Interacts (via PDZ domain 8) with WWC1 (via the ADDV motif). Interacts (via C-terminus) with ARHGEF18 (PubMed:22006950).
    SequenceCaution:
    • Sequence=CAH70416.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21733.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22258.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PATJ Gene

    Alternative splice isoforms for PATJ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PATJ Gene

Post-translational modifications for PATJ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PATJ Gene

Domains & Families for PATJ Gene

Gene Families for PATJ Gene

Protein Domains for PATJ Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PATJ Gene

Graphical View of Domain Structure for InterPro Entry

Q8NI35

UniProtKB/Swiss-Prot:

INADL_HUMAN :
  • The L27 domain (also called Maguk recruitment domain) is required for interaction with MPP5 and CRB3, and MPP5 localization to tight junctions.
Domain:
  • The L27 domain (also called Maguk recruitment domain) is required for interaction with MPP5 and CRB3, and MPP5 localization to tight junctions.
  • The PDZ domain 6 mediates interaction with the C-terminus of TJP3 and is crucial for localization to the tight junctions. The PDZ domain 8 interacts with CLDN1 but is not required for proper localization.
genes like me logo Genes that share domains with PATJ: view

Function for PATJ Gene

Molecular function for PATJ Gene

UniProtKB/Swiss-Prot Function:
Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane. May regulate protein targeting, cell polarity and integrity of tight junctions. May regulate the surface expression and/or function of ASIC3 in sensory neurons. May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).

Gene Ontology (GO) - Molecular Function for PATJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11927608
genes like me logo Genes that share ontologies with PATJ: view
genes like me logo Genes that share phenotypes with PATJ: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for PATJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for PATJ Gene

Cell junction, tight junction. Apical cell membrane; Peripheral membrane protein. Cytoplasm, perinuclear region. Cell membrane; Peripheral membrane protein. Note=Localized in the paranodal region of myelinating Schwann cells (By similarity). Membrane-associated. Localizes to tight junctions in epithelial cells (PubMed:22006950). Also found at the apical plasma membrane. {ECO:0000250 UniProtKB:Q63ZW7, ECO:0000269 PubMed:22006950}.

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 PATJ gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for PATJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PATJ: view

Pathways & Interactions for PATJ Gene

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

Pathways by source for PATJ Gene

Gene Ontology (GO) - Biological Process for PATJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035556 intracellular signal transduction NAS 9280290
GO:0070830 bicellular tight junction assembly TAS --
genes like me logo Genes that share ontologies with PATJ: view

No data available for SIGNOR curated interactions for PATJ Gene

Drugs & Compounds for PATJ Gene

(5) Drugs for PATJ Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PATJ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PATJ: view

Transcripts for PATJ Gene

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for PATJ Gene

GeneLoc Exon Structure for
PATJ
ECgene alternative splicing isoforms for
PATJ

Expression for PATJ Gene

NURSA nuclear receptor signaling pathways regulating expression of PATJ Gene:

PATJ

mRNA Expression by UniProt/SwissProt for PATJ Gene:

Q8NI35-INADL_HUMAN
Tissue specificity: Expressed in bladder, testis, ovary, small intestine, colon, heart, skeletal muscle, pancreas and cerebellum in the brain.

Evidence on tissue expression from TISSUES for PATJ Gene

  • Kidney(4.5)
  • Skin(4.3)
  • Liver(4.2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PATJ Gene

Orthologs for PATJ Gene

This gene was present in the common ancestor of animals.

Orthologs for PATJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INADL 35 34
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INADL 34 35
  • 89.98 (n)
cow
(Bos Taurus)
Mammalia INADL 34 35
  • 88.44 (n)
mouse
(Mus musculus)
Mammalia Inadl 35 34
  • 81.87 (n)
OneToOne
Patj 16
rat
(Rattus norvegicus)
Mammalia Inadl 34
  • 81.82 (n)
oppossum
(Monodelphis domestica)
Mammalia INADL 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INADL 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves INADL 34 35
  • 70.03 (n)
lizard
(Anolis carolinensis)
Reptilia INADL 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia inadl 34
  • 64.71 (n)
zebrafish
(Danio rerio)
Actinopterygii inadl 34 35
  • 58.86 (n)
Dr.20603 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1952 34
fruit fly
(Drosophila melanogaster)
Insecta Patj 35
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mpz-1 35
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
CSA.5918 35
  • 30 (a)
OneToMany
Species where no ortholog for PATJ 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PATJ Gene

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

Paralogs for PATJ Gene

Paralogs for PATJ Gene

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

Variants for PATJ Gene

Sequence variations from dbSNP and Humsavar for PATJ Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000002427 -- 61,814,317(+) TTTTG(A/T)ATTTT intron-variant
rs1000021387 -- 62,152,626(+) AGCCT(C/G)GGTGA intron-variant
rs1000030010 -- 62,077,410(+) GTGGC(A/G)GGGCA intron-variant, upstream-variant-2KB
rs1000046032 -- 61,844,152(+) TGAAA(A/G)TAAGA intron-variant
rs1000051270 -- 61,927,221(+) AATTA(C/T)AGATG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv169n100 CNV loss 25217958
dgv170n100 CNV loss 25217958
dgv171n100 CNV loss 25217958
dgv43e212 CNV loss 25503493
dgv5e215 CNV deletion 23714750
dgv6n21 CNV loss 19592680
dgv93n106 CNV deletion 24896259
esv1003515 CNV deletion 20482838
esv1040191 CNV deletion 17803354
esv1091714 CNV insertion 17803354
esv1631480 CNV insertion 17803354
esv2323512 CNV deletion 18987734
esv2421746 CNV deletion 20811451
esv2472996 CNV deletion 19546169
esv2514338 CNV insertion 19546169
esv2549769 CNV deletion 19546169
esv26149 CNV loss 19812545
esv2659941 CNV deletion 23128226
esv2663885 CNV deletion 23128226
esv2667576 CNV deletion 23128226
esv2670379 CNV deletion 23128226
esv2672562 CNV deletion 23128226
esv2673058 CNV deletion 23128226
esv2748974 CNV deletion 23290073
esv2748985 CNV deletion 23290073
esv2764255 CNV loss 21179565
esv2852235 CNV deletion 24192839
esv29630 CNV loss 19812545
esv3304147 CNV mobile element insertion 20981092
esv3404887 CNV insertion 20981092
esv3562871 CNV deletion 23714750
esv3562915 CNV deletion 23714750
esv3562926 CNV deletion 23714750
esv3586222 CNV loss 21293372
esv3586223 CNV loss 21293372
esv3586224 CNV loss 21293372
esv3586225 CNV loss 21293372
esv3586230 CNV loss 21293372
esv3586231 CNV loss 21293372
esv3893601 CNV loss 25118596
esv5270 CNV loss 18987735
esv6133 CNV loss 19470904
esv997498 CNV gain 20482838
nsv1001667 CNV loss 25217958
nsv1010655 CNV loss 25217958
nsv1011842 CNV gain 25217958
nsv1012683 CNV gain 25217958
nsv10217 CNV loss 18304495
nsv1077880 CNV deletion 25765185
nsv1099 CNV deletion 18451855
nsv1110 CNV deletion 18451855
nsv1122350 CNV deletion 24896259
nsv1125463 CNV tandem duplication 24896259
nsv1146966 CNV deletion 26484159
nsv159038 CNV deletion 16902084
nsv437210 CNV loss 16327808
nsv437211 CNV loss 16327808
nsv438388 CNV loss 16468122
nsv472184 CNV novel sequence insertion 20440878
nsv476778 CNV novel sequence insertion 20440878
nsv511694 CNV loss 21212237
nsv517696 CNV loss 19592680
nsv546415 CNV loss 21841781
nsv546416 CNV gain 21841781
nsv546417 CNV loss 21841781
nsv818189 CNV loss 17921354
nsv822998 CNV loss 20364138
nsv830004 CNV gain 17160897
nsv947429 CNV deletion 23825009
nsv958705 CNV deletion 24416366

Variation tolerance for PATJ Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.16; 96.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PATJ Gene

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

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

Disorders for PATJ Gene

Relevant External Links for PATJ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PATJ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PATJ

No disorders were found for PATJ Gene.

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

Publications for PATJ Gene

  1. Molecular characterization of a novel PDZ domain protein with homology to INAD from Drosophila melanogaster. (PMID: 9280290) Philipp S. … Flockerzi V. (FEBS Lett. 1997) 2 3 4 22 64
  2. The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. (PMID: 11927608) Roh M.H. … Margolis B. (J. Cell Biol. 2002) 3 4 22 64
  3. Isolation of novel heart-specific genes using the BodyMap database. (PMID: 11374908) Soejima H. … Mukai T. (Genomics 2001) 2 3 4 64
  4. Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H. … Tanoue T. (J. Cell Biol. 2011) 3 4 64
  5. Channel-interacting PDZ protein, 'CIPP', interacts with proteins involved in cytoskeletal dynamics. (PMID: 19138174) Alpi E. … Dente L. (Biochem. J. 2009) 3 22 64

Products for PATJ Gene

Sources for PATJ Gene

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