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

    Gene ID: 10207, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:28881
    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
    NEW
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    Genomic context

    See PATJ in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (61742480..62163915)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (61621342..62042561)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62208152..62629587)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene Neighboring gene MPRA-validated peak264 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:62190259-62191458 Neighboring gene TM2 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 944 Neighboring gene PATJ divergent transcript Neighboring gene RNA, U6 small nuclear 414, pseudogene Neighboring gene RNA, U6 small nuclear 1177, pseudogene Neighboring gene microRNA 12132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62408660-62409160 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62415202-62416005 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62416006-62416808 Neighboring gene uncharacterized LOC107984965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62505050-62505652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:62511005-62511534 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62642659-62643206 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (21 hits/1246 screens)

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ26982

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in apical junction complex PubMed 
    is_active_in apical part of cell  
    located_in apical plasma membrane  
    located_in apical plasma membrane PubMed 
    is_active_in bicellular tight junction  
    located_in bicellular tight junction PubMed 
    located_in cell junction  
    located_in centriolar satellite  
    is_active_in cytoplasm  
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001350145.3NP_001337074.2  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)
      AC097064, AL136458, AL353802, AL449143, AL590374
      Consensus CDS
      CCDS85980.1
      UniProtKB/TrEMBL
      A0A2R8Y549
      Related
      ENSP00000494277.1, ENST00000642238.2
      Conserved Domains (4) summary
      smart00228
      Location:14341519
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG0793
      Location:391513
      CtpA; C-terminal processing protease CtpA/Prc, contains a PDZ domain [Posttranslational modification, protein turnover, chaperones]
      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
    2. NM_176877.5NP_795352.3  inaD-like protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC097064, AL136458, AL353802, AL449143, AL590374
      Consensus CDS
      CCDS617.2
      UniProtKB/Swiss-Prot
      O15249, O43742, O60833, Q5VUA5, Q5VUA6, Q5VUA7, Q5VUA8, Q5VUA9, Q5VUB0, Q8NI35, Q8WU78, Q9H3N9
      Related
      ENSP00000360200.2, ENST00000371158.6
      Conserved Domains (4) summary
      smart00228
      Location:14341519
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      COG0793
      Location:391513
      CtpA; C-terminal processing protease CtpA/Prc, contains a PDZ domain [Posttranslational modification, protein turnover, chaperones]
      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) ...
      pfam09045
      Location:865
      L27_2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      61742480..62163915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540462.4XP_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_011540467.4XP_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_011540464.4XP_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_011540466.4XP_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_047424287.1XP_047280243.1  inaD-like protein isoform X10

    6. XM_016999998.3XP_016855487.1  inaD-like protein isoform X6

    7. XM_024448642.2XP_024304410.1  inaD-like protein isoform X12

      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
    8. XM_011540465.4XP_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) ...
    9. XM_047424283.1XP_047280239.1  inaD-like protein isoform X9

    10. XM_024448614.2XP_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
    11. XM_047424301.1XP_047280257.1  inaD-like protein isoform X11

    12. XM_016999999.3XP_016855488.1  inaD-like protein isoform X8

    13. XM_011540468.4XP_011538770.1  inaD-like protein isoform X14

      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) ...
    14. XM_047424321.1XP_047280277.1  inaD-like protein isoform X15

      Related
      ENST00000635214.1
    15. XM_011540469.4XP_011538771.1  inaD-like protein isoform X16

      UniProtKB/TrEMBL
      A5PKX9
      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) ...
    16. XM_006710278.5XP_006710341.1  inaD-like protein isoform X18

      UniProtKB/TrEMBL
      A5PKX9
      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) ...
    17. XM_005270347.3XP_005270404.1  inaD-like protein isoform X17

      UniProtKB/TrEMBL
      A5PKX9
      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) ...
    18. XM_011540470.3XP_011538772.1  inaD-like protein isoform X20

      UniProtKB/TrEMBL
      A5PKX9
      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) ...
    19. XM_011540463.3XP_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) ...
    20. XM_017000000.2XP_016855489.1  inaD-like protein isoform X13

    21. XM_017000001.2XP_016855490.1  inaD-like protein isoform X19

    RNA

    1. XR_007061928.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      61621342..62042561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333733.1XP_054189708.1  inaD-like protein isoform X1

    2. XM_054333740.1XP_054189715.1  inaD-like protein isoform X7

    3. XM_054333735.1XP_054189710.1  inaD-like protein isoform X2

    4. XM_054333737.1XP_054189712.1  inaD-like protein isoform X4

    5. XM_054333743.1XP_054189718.1  inaD-like protein isoform X10

    6. XM_054333739.1XP_054189714.1  inaD-like protein isoform X6

    7. XM_054333745.1XP_054189720.1  inaD-like protein isoform X12

    8. XM_054333736.1XP_054189711.1  inaD-like protein isoform X3

    9. XM_054333742.1XP_054189717.1  inaD-like protein isoform X9

    10. XM_054333738.1XP_054189713.1  inaD-like protein isoform X5

    11. XM_054333744.1XP_054189719.1  inaD-like protein isoform X11

    12. XM_054333741.1XP_054189716.1  inaD-like protein isoform X8

    13. XM_054333747.1XP_054189722.1  inaD-like protein isoform X14

    14. XM_054333748.1XP_054189723.1  inaD-like protein isoform X15

    15. XM_054333749.1XP_054189724.1  inaD-like protein isoform X16

      UniProtKB/TrEMBL
      A5PKX9
    16. XM_054333751.1XP_054189726.1  inaD-like protein isoform X18

      UniProtKB/TrEMBL
      A5PKX9
    17. XM_054333750.1XP_054189725.1  inaD-like protein isoform X17

      UniProtKB/TrEMBL
      A5PKX9
    18. XM_054333753.1XP_054189728.1  inaD-like protein isoform X20

      UniProtKB/TrEMBL
      A5PKX9
    19. XM_054333734.1XP_054189709.1  inaD-like protein isoform X1

    20. XM_054333746.1XP_054189721.1  inaD-like protein isoform X13

    21. XM_054333752.1XP_054189727.1  inaD-like protein isoform X19

    RNA

    1. XR_008485862.1 RNA Sequence

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