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... See more...

Aliases for PATJ Gene

Aliases for PATJ Gene

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

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. Diseases associated with PATJ include Spontaneous Tension Pneumothorax and Retinitis Pigmentosa 12. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Hippo signaling pathway. An important paralog of this gene is MPDZ.

UniProtKB/Swiss-Prot Summary for PATJ Gene

  • Scaffolding protein that may bring different proteins into adjacent positions at the cell membrane (Probable). May regulate protein targeting, cell polarity and integrity of tight junctions (PubMed:11927608, PubMed:16678097). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).

Gene Wiki entry for PATJ Gene

Additional gene information for PATJ Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PATJ Gene

Genomics for PATJ Gene

GeneHancer (GH) Regulatory Elements for PATJ Gene

Promoters and enhancers for PATJ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J061741 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 511.1 +0.7 655 3.5 ZBTB40 MYC POLR2G PHF8 ZFX ZIC2 POLR2A ZBTB10 ZNF423 ZBTB26 PATJ ENSG00000271200 TM2D1 RF00017-228
GH01J061950 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 506.9 +209.2 209240 2.7 CTCF TEAD4 TEAD1 HDAC2 POLR2A ZNF316 MAFF RAD21 MLLT1 MAFK PATJ USP1 KANK4 FJ601684-022 HSALNG0004045
GH01J062194 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.4 +454.6 454621 5.8 MYC TEAD4 KDM6A ZNF623 SKI TEAD1 HDAC2 ZSCAN9 POLR2A KMT2B L1TD1 PATJ ENSG00000237227 lnc-KANK4-2
GH01J062090 Enhancer 0.6 Ensembl ENCODE 18.3 +347.6 347595 0.8 JUND HNF4A TCF7L2 GATA3 PATJ RF00017-230 piR-50443-018
GH01J062045 Enhancer 0.6 Ensembl 16.5 +303.4 303395 0.8 ZIC2 ZNF316 ZBTB17 NFE2 ZNF335 MAFK MAFG GLIS1 NFE2L2 MAFF PATJ USP1 lnc-L1TD1-6 LAMTOR5P1 RF00017-229 lnc-L1TD1-5 RN7SL180P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PATJ on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PATJ

Genomic Locations for PATJ Gene

Genomic Locations for PATJ Gene
chr1:61,742,406-62,178,675
(GRCh38/hg38)
Size:
436,270 bases
Orientation:
Plus strand
chr1:62,208,149-62,629,592
(GRCh37/hg19)
Size:
421,444 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:
    • Forms a ternary complex with MPP5, CRB1 and CRB3 (PubMed:11927608, PubMed:11964389). Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ and PARD3/PAR3 (PubMed:16678097). Forms a heterotrimeric complex composed of MMP5, LIN7B and PATJ; the N-terminal L27 domain of MPP5 interacts with the L27 domain of PATJ and the C-terminal L27 domain of MPP5 interacts with the L27 domain of LIN7B (By similarity). Interacts with TJP3/ZO-3 and CLDN1/claudin-1 (PubMed:12021270). Interacts with ASIC3, KCNJ10, KCNJ15, GRIN2A, GRIN2B, GRIN2C, GRIN2D, NLGN2, HTR2A and SLC6A4 (By similarity). Interacts with MPP7 (PubMed:12021270). Directly interacts with HTR4 (By similarity). Interacts (via PDZ domain 8) with WWC1 (via the ADDV motif) (PubMed:18596123). Interacts with SLC6A4 (By similarity). Interacts (via C-terminus) with ARHGEF18 (PubMed:22006950). Interacts with NPHP1 (PubMed:19755384).

    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

Blocks:
  • PDZ/DHR/GLGF domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PATJ Gene

GenScript: Design optimal peptide antigens:
  • INADL protein (A5PKX9_HUMAN)
  • cDNA FLJ59473, highly similar to InaD-like protein (B4DE90_HUMAN)
  • Protein associated to tight junctions (INADL_HUMAN)

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 (PubMed:12021270). The PDZ domain 8 interacts with CLDN1 but is not required for proper localization (PubMed:12021270).
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 (Probable). May regulate protein targeting, cell polarity and integrity of tight junctions (PubMed:11927608, PubMed:16678097). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).

Phenotypes From GWAS Catalog for PATJ Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PATJ

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. Note=Localizes to tight junctions in epithelial cells (PubMed:22006950). Also found at the apical plasma membrane (PubMed:11964389). Localized in the paranodal region of myelinating Schwann cells (By similarity). {ECO:0000250 UniProtKB:Q63ZW7, ECO:0000269 PubMed:11964389, 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
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Centriolar satellite (4)
See all subcellular structures

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

1 Qiagen pathway for PATJ Gene
  • Epithelial Tight Junctions

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

mRNA/cDNA for PATJ Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PATJ

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

No ASD Table

Relevant External Links for PATJ Gene

GeneLoc Exon Structure for
PATJ

Expression for PATJ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PATJ

mRNA Expression by UniProt/SwissProt for PATJ Gene:

Q8NI35-INADL_HUMAN
Tissue specificity: Expressed in renal tubules (at protein level) (PubMed:19755384). 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)
  • Nervous system(2)

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 31 30
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia INADL 31 30
  • 89.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia INADL 31 30
  • 88.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Inadl 31 30
  • 81.87 (n)
OneToOne
Patj 17
rat
(Rattus norvegicus)
Mammalia Inadl 30
  • 81.82 (n)
oppossum
(Monodelphis domestica)
Mammalia INADL 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INADL 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves INADL 31 30
  • 70.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INADL 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia inadl 30
  • 64.71 (n)
zebrafish
(Danio rerio)
Actinopterygii inadl 31 30
  • 58.86 (n)
OneToOne
Dr.20603 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1952 30
fruit fly
(Drosophila melanogaster)
Insecta Patj 31
  • 31 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mpz-1 31
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
CSA.5918 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PATJ: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PATJ Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
734302 Benign: not provided 62,128,864(+) T/A SYNONYMOUS_VARIANT
738512 Likely Benign: not provided 62,114,085(+) C/T SYNONYMOUS_VARIANT
775134 Benign: not provided 61,861,632(+) G/C MISSENSE_VARIANT
775135 Benign: not provided 62,079,574(+) T/C INTRON_VARIANT
775553 Benign: not provided 61,775,343(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PATJ Gene

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)

Additional Variant Information for PATJ Gene

Human Gene Mutation Database (HGMD)
PATJ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PATJ

SNP Genotyping and Copy Number Assay Products

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

Disorders for PATJ Gene

MalaCards: The human disease database

(6) MalaCards diseases for PATJ Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PATJ in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PATJ

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

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

Publications for PATJ Gene

  1. Molecular characterization of a novel human PDZ domain protein with homology to INAD from Drosophila melanogaster. (PMID: 9280290) Philipp S … Flockerzi V (FEBS letters 1997) 2 3 4 23 54
  2. The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. (PMID: 11927608) Roh MH … Margolis B (The Journal of cell biology 2002) 3 4 23 54
  3. Isolation of novel heart-specific genes using the BodyMap database. (PMID: 11374908) Soejima H … Mukai T (Genomics 2001) 2 3 4 54
  4. Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H … Tanoue T (The Journal of cell biology 2011) 3 4 54
  5. Channel-interacting PDZ protein, 'CIPP', interacts with proteins involved in cytoskeletal dynamics. (PMID: 19138174) Alpi E … Dente L (The Biochemical journal 2009) 3 23 54

Products for PATJ Gene

Sources for PATJ Gene