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PATJ PATJ, crumbs cell polarity complex component [ Homo sapiens (human) ]

Gene ID: 10207, updated on 6-Jan-2019

Summary

Official Symbol
PATJprovided by HGNC
Official Full Name
PATJ, crumbs cell polarity complex componentprovided by HGNC
Primary source
HGNC:HGNC:28881
See related
Ensembl:ENSG00000132849 MIM:603199
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Cipp; INADL; hINADL; InaD-like
Summary
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]
Expression
Broad expression in kidney (RPKM 14.4), heart (RPKM 7.9) and 24 other tissues See more
Orthologs

Genomic context

See PATJ in Genome Data Viewer
Location:
1p31.3
Exon count:
52
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (61742466..62163920)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62208149..62629592)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene Neighboring gene TM2 domain containing 1 Neighboring gene RNA, U6 small nuclear 414, pseudogene Neighboring gene RNA, U6 small nuclear 1177, pseudogene Neighboring gene uncharacterized LOC107984965 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 180, pseudogene Neighboring gene microRNA 3116-1 Neighboring gene microRNA 3116-2 Neighboring gene ribosomal protein S15a pseudogene 7 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
    Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction interactions, organism-specific biosystem (from REACTOME)
    Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26982

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicellular tight junction assembly TAS
Traceable Author Statement
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
inaD-like protein
Names
PALS1-associated tight junction protein
PDZ domain protein
channel-interacting PDZ domain protein
inactivation no after-potential D-like protein
inactivation-no-afterpotential D-like
protein associated to tight junctions

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001350145.1NP_001337074.1  inaD-like protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate penultimate exon, compared to variant 1, resulting in a novel 3' coding region and shorter 3' UTR. It encodes isoform 2 which has a longer and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB044807, AC097064, AF397170, AJ224747, AL136458, BU678903, CD356816, DC418942
    Consensus CDS
    CCDS85980.1
    Related
    ENSP00000494277.1, ENST00000642238.1
    Conserved Domains (4) summary
    smart00228
    Location:14341519
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:17971881
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam09045
    Location:865
    L27_2
    cl02526
    Location:391513
    Peptidase_S41; C-terminal processing peptidase family S41
  2. NM_176877.3NP_795352.2  inaD-like protein isoform 1

    See identical proteins and their annotated locations for NP_795352.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AB044807, AC097064, AF397170, AJ224747, AL136458, CD356816, DC418942
    Consensus CDS
    CCDS617.2
    Related
    ENSP00000360200.2, ENST00000371158.6
    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:14341519
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:16741759
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    61742466..62163920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540462.3XP_011538764.1  inaD-like protein isoform X1

    See identical proteins and their annotated locations for XP_011538764.1

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:12361321
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:18521936
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  2. XM_011540467.3XP_011538769.1  inaD-like protein isoform X7

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:12361321
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:17291814
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  3. XM_011540464.3XP_011538766.1  inaD-like protein isoform X2

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:14591558
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:18361920
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  4. XM_011540466.3XP_011538768.1  inaD-like protein isoform X4

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:14591544
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:18221906
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  5. XM_016999998.2XP_016855487.1  inaD-like protein isoform X6

  6. XM_024448642.1XP_024304410.1  inaD-like protein isoform X9

    Conserved Domains (4) summary
    smart00228
    Location:12361321
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:16711756
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam09045
    Location:865
    L27_2
    cl02526
    Location:391513
    Peptidase_S41; C-terminal processing peptidase family S41
  7. XM_011540465.3XP_011538767.1  inaD-like protein isoform X3

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:12361321
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:18271911
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  8. XM_024448614.1XP_024304382.1  inaD-like protein isoform X5

    Conserved Domains (4) summary
    smart00228
    Location:14341533
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:18111895
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam09045
    Location:865
    L27_2
    cl02526
    Location:391513
    Peptidase_S41; C-terminal processing peptidase family S41
  9. XM_016999999.2XP_016855488.1  inaD-like protein isoform X8

  10. XM_011540468.3XP_011538770.1  inaD-like protein isoform X11

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:12361321
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:246325
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  11. XM_011540469.3XP_011538771.1  inaD-like protein isoform X12

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:683772
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:246325
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  12. XM_005270347.2XP_005270404.1  inaD-like protein isoform X13

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:683772
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:246325
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  13. XM_006710278.4XP_006710341.1  inaD-like protein isoform X14

    Related
    ENSP00000326199.7, ENST00000316485.11
    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:683772
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:246325
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  14. XM_011540470.2XP_011538772.1  inaD-like protein isoform X16

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:683772
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:246325
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  15. XM_011540463.2XP_011538765.1  inaD-like protein isoform X1

    See identical proteins and their annotated locations for XP_011538765.1

    Conserved Domains (3) summary
    pfam09045
    Location:865
    L27_2; L27_2
    smart00228
    Location:12361321
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:18521936
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  16. XM_017000000.1XP_016855489.1  inaD-like protein isoform X10

  17. XM_017000001.1XP_016855490.1  inaD-like protein isoform X15

RNA

  1. XR_002957157.1 RNA Sequence

    Related
    ENST00000635214.1
  2. XR_001736900.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005799.2: Suppressed sequence

    Description
    NM_005799.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_176878.1: Suppressed sequence

    Description
    NM_176878.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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