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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MUC1 and Polarity Markers INADL and SCRIB Identify Salivary Ductal Cells.
Title: MUC1 and Polarity Markers INADL and SCRIB Identify Salivary Ductal Cells.
Meta-analysis: Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 .
Title: PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.
Results indicate a role for Yes associated protein (YAP), which is inhibited by the Hippo pathway, in the cytokinesis machinery during mitosis through interaction with the polarity protein PATJ.
Title: Cytokinesis involves a nontranscriptional function of the Hippo pathway effector YAP.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Signalling molecules and effectors can be integrated into a functional network by the scaffold organizer protein PATJ via its multiple PDZ domains.
Title: Pals-associated tight junction protein functionally links dopamine and angiotensin II to the regulation of sodium transport in renal epithelial cells.
Results suggest that signaling mediated by Pals1, which has a higher affinity for Patj than for MUPP1 and is involved in the activation of the Par6-aPKC complex, is of principal importance for the function of Patj in epithelial cells.
Title: Similar and distinct properties of MUPP1 and Patj, two homologous PDZ domain-containing tight-junction proteins.
Data show taht channel-interacting PDZ protein, 'CIPP', interacts with proteins involved in cytoskeletal dynamics.
Title: Channel-interacting PDZ protein, 'CIPP', interacts with proteins involved in cytoskeletal dynamics.
the directional migration of capillaries in the embryo is governed by the Amot:Patj/Mupp1:Syx signaling that controls local GTPase activity
Title: The Amot/Patj/Syx signaling complex spatially controls RhoA GTPase activity in migrating endothelial cells.
Data show that PATJ regulates the spatial concentration of several tight junction components at the border between the apical and lateral domains in Caco-2 cells.
Title: PATJ connects and stabilizes apical and lateral components of tight junctions in human intestinal cells.
PATJ controls directional migration by regulating the localization of aPKC and Par3 to the leading edge of epithelial cells.
Title: PATJ regulates directional migration of mammalian epithelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-105844 (e-PCR)
- UniSTS:169472

G32675 (e-PCR)
- UniSTS:117257

RH103735 (e-PCR)
- UniSTS:98060

SHGC-34755 (e-PCR)
- UniSTS:38413

SHGC-155078 (e-PCR)
- UniSTS:182055

RH121702 (e-PCR)
- UniSTS:134441

RH121804 (e-PCR)
- UniSTS:134953

A009N06 (e-PCR)
- UniSTS:65844

D1S246 (e-PCR)
- UniSTS:33598

RH123377 (e-PCR)
- UniSTS:135753

SHGC-153439 (e-PCR)
- UniSTS:177749

RH94138 (e-PCR)
- UniSTS:87388

D1S246 (e-PCR)
- UniSTS:47964

SHGC-74915 (e-PCR)
- UniSTS:61789

D1S2554 (e-PCR)
- UniSTS:27502

AL009719 (e-PCR)
- UniSTS:34414

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-74898 (e-PCR)
- UniSTS:37501

AL010059 (e-PCR)
- UniSTS:6794

RH103630 (e-PCR)
- UniSTS:97955

AL009503 (e-PCR)
- UniSTS:53159

SHGC-862 (e-PCR)
- UniSTS:84913

AL009332 (e-PCR)
- UniSTS:83157

RH123012 (e-PCR)
- UniSTS:135403

D1S230 (e-PCR), detects polymorphism
- UniSTS:33529

D1S3389 (e-PCR)
- UniSTS:4863

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 more info	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

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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)

NM_001350145.3 → NP_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:1434 → 1519

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG0793
Location:391 → 513

CtpA; C-terminal processing protease CtpA/Prc, contains a PDZ domain [Posttranslational modification, protein turnover, chaperones]

cd00992
Location:1797 → 1881

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:8 → 65

L27_2
NM_176877.5 → NP_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:1434 → 1519

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

COG0793
Location:391 → 513

CtpA; C-terminal processing protease CtpA/Prc, contains a PDZ domain [Posttranslational modification, protein turnover, chaperones]

cd00992
Location:1674 → 1759

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:8 → 65

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

61742480..62163915

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540462.4 → XP_011538764.1 inaD-like protein isoform X1

See identical proteins and their annotated locations for XP_011538764.1

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1236 → 1321

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1852 → 1936

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) ...
XM_011540467.4 → XP_011538769.1 inaD-like protein isoform X7

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1236 → 1321

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1729 → 1814

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) ...
XM_011540464.4 → XP_011538766.1 inaD-like protein isoform X2

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1459 → 1558

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1836 → 1920

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) ...
XM_011540466.4 → XP_011538768.1 inaD-like protein isoform X4

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1459 → 1544

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1822 → 1906

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) ...
XM_047424287.1 → XP_047280243.1 inaD-like protein isoform X10
XM_016999998.3 → XP_016855487.1 inaD-like protein isoform X6
XM_024448642.2 → XP_024304410.1 inaD-like protein isoform X12

Conserved Domains (4) summary

smart00228
Location:1236 → 1321

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1671 → 1756

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:8 → 65

L27_2

cl02526
Location:391 → 513

Peptidase_S41; C-terminal processing peptidase family S41
XM_011540465.4 → XP_011538767.1 inaD-like protein isoform X3

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1236 → 1321

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1827 → 1911

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) ...
XM_047424283.1 → XP_047280239.1 inaD-like protein isoform X9
XM_024448614.2 → XP_024304382.1 inaD-like protein isoform X5

Conserved Domains (4) summary

smart00228
Location:1434 → 1533

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1811 → 1895

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:8 → 65

L27_2

cl02526
Location:391 → 513

Peptidase_S41; C-terminal processing peptidase family S41
XM_047424301.1 → XP_047280257.1 inaD-like protein isoform X11
XM_016999999.3 → XP_016855488.1 inaD-like protein isoform X8
XM_011540468.4 → XP_011538770.1 inaD-like protein isoform X14

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1236 → 1321

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:246 → 325

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

Related

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

UniProtKB/TrEMBL

A5PKX9

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:683 → 772

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:246 → 325

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) ...
XM_006710278.5 → XP_006710341.1 inaD-like protein isoform X18

UniProtKB/TrEMBL

A5PKX9

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:683 → 772

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:246 → 325

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) ...
XM_005270347.3 → XP_005270404.1 inaD-like protein isoform X17

UniProtKB/TrEMBL

A5PKX9

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:683 → 772

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:246 → 325

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) ...
XM_011540470.3 → XP_011538772.1 inaD-like protein isoform X20

UniProtKB/TrEMBL

A5PKX9

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:683 → 772

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:246 → 325

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) ...
XM_011540463.3 → XP_011538765.1 inaD-like protein isoform X1

See identical proteins and their annotated locations for XP_011538765.1

Conserved Domains (3) summary

pfam09045
Location:8 → 65

L27_2; L27_2

smart00228
Location:1236 → 1321

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:1852 → 1936

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) ...
XM_017000000.2 → XP_016855489.1 inaD-like protein isoform X13
XM_017000001.2 → XP_016855490.1 inaD-like protein isoform X19

RNA

XR_007061928.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

61621342..62042561

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333733.1 → XP_054189708.1 inaD-like protein isoform X1
XM_054333740.1 → XP_054189715.1 inaD-like protein isoform X7
XM_054333735.1 → XP_054189710.1 inaD-like protein isoform X2
XM_054333737.1 → XP_054189712.1 inaD-like protein isoform X4
XM_054333743.1 → XP_054189718.1 inaD-like protein isoform X10
XM_054333739.1 → XP_054189714.1 inaD-like protein isoform X6
XM_054333745.1 → XP_054189720.1 inaD-like protein isoform X12
XM_054333736.1 → XP_054189711.1 inaD-like protein isoform X3
XM_054333742.1 → XP_054189717.1 inaD-like protein isoform X9
XM_054333738.1 → XP_054189713.1 inaD-like protein isoform X5
XM_054333744.1 → XP_054189719.1 inaD-like protein isoform X11
XM_054333741.1 → XP_054189716.1 inaD-like protein isoform X8
XM_054333747.1 → XP_054189722.1 inaD-like protein isoform X14
XM_054333748.1 → XP_054189723.1 inaD-like protein isoform X15
XM_054333749.1 → XP_054189724.1 inaD-like protein isoform X16
XM_054333751.1 → XP_054189726.1 inaD-like protein isoform X18
XM_054333750.1 → XP_054189725.1 inaD-like protein isoform X17
XM_054333753.1 → XP_054189728.1 inaD-like protein isoform X20
XM_054333734.1 → XP_054189709.1 inaD-like protein isoform X1
XM_054333746.1 → XP_054189721.1 inaD-like protein isoform X13
XM_054333752.1 → XP_054189727.1 inaD-like protein isoform X19

RNA

XR_008485862.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.