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

Gene ID: 10207, updated on 27-Nov-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
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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: 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 Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ26982

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in establishment of apical/basal cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
Non-traceable Author Statement
more info
PubMed 
involved_in intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tight junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in apical junction complex NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in apical part of cell IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular exosome HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

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)

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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

  16. XM_054333751.1XP_054189726.1  inaD-like protein isoform X18

  17. XM_054333750.1XP_054189725.1  inaD-like protein isoform X17

  18. XM_054333753.1XP_054189728.1  inaD-like protein isoform X20

  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

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.