Gene Gene information from NCBI Gene database.
Entrez ID 10207
Gene name PATJ crumbs cell polarity complex component
Gene symbol PATJ
Synonyms (NCBI Gene)
CippINADLInaD-likehINADL
Chromosome 1
Chromosome location 1p31.3
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 th
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT677843 hsa-miR-490-3p HITS-CLIP 23824327
MIRT625889 hsa-miR-3929 HITS-CLIP 23824327
MIRT625888 hsa-miR-4419b HITS-CLIP 23824327
MIRT625887 hsa-miR-4478 HITS-CLIP 23824327
MIRT625886 hsa-miR-5690 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11927608, 18596123, 21481793, 24366813, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603199 28881 ENSG00000132849
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NI35
Protein name InaD-like protein (Inadl protein) (hINADL) (Channel-interacting PDZ domain-containing protein) (Pals1-associated tight junction protein) (Protein associated to tight junctions)
Protein function Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:1192760
PDB 1VF6 , 2D92 , 2DAZ , 2DB5 , 2DLU , 2DM8 , 2DMZ , 2EHR , 4Q2N , 6IRD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09045 L27_2 8 65 L27_2 Domain
PF00595 PDZ 134 218 PDZ domain Domain
PF00595 PDZ 248 325 PDZ domain Domain
PF00595 PDZ 365 450 PDZ domain Domain
PF00595 PDZ 563 634 PDZ domain Domain
PF00595 PDZ 686 770 PDZ domain Domain
PF00595 PDZ 1069 1157 PDZ domain Domain
PF00595 PDZ 1239 1319 PDZ domain Domain
PF00595 PDZ 1435 1517 PDZ domain Domain
PF00595 PDZ 1534 1612 PDZ domain Domain
PF00595 PDZ 1676 1759 PDZ domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:11964389, ECO:0000269|PubMe
Sequence
MPENPATDKLQVLQVLDRLKMKLQEKGDTSQNEKLSMFYETLKSPLFNQILTLQQSIKQL
KGQLN
HIPSDCSANFDFSRKGLLVFTDGSITNGNVHRPSNNSTVSGLFPWTPKLGNEDFN
SVIQQMAQGRQIEYIDIERPSTGGLGFSVVALRSQNLGKVDIFVKDVQPGSVADRDQRLK
ENDQILAINHTPLDQNISHQQAIALLQQTTGSLRLIVA
REPVHTKSSTSSSLNDTTLPET
VCWGHVEEVELINDGSGLGFGIVGGKTSGVVVRTIVPGGLADRDGRLQTGDHILKIGGTN
VQGMTSEQVAQVLRNCGNSVRMLVA
RDPAGDISVTPPAPAALPVALPTVASKGPGSDSSL
FETYNVELVRKDGQSLGIRIVGYVGTSHTGEASGIYVKSIIPGSAAYHNGHIQVNDKIVA
VDGVNIQGFANHDVVEVLRNAGQVVHLTLV
RRKTSSSTSPLEPPSDRGTVVEPLKPPALF
LTGAVETETNVDGEDEEIKERIDTLKNDNIQALEKLEKVPDSPENELKSRWENLLGPDYE
VMVATLDTQIADDAELQKYSKLLPIHTLRLGVEVDSFDGHHYISSIVSGGPVDTLGLLQP
EDELLEVNGMQLYGKSRREAVSFLKEVPPPFTLV
CCRRLFDDEASVDEPRRTETSLPETE
VDHNMDVNTEEDDDGELALWSPEVKIVELVKDCKGLGFSILDYQDPLDPTRSVIVIRSLV
ADGVAERSGGLLPGDRLVSVNEYCLDNTSLAEAVEILKAVPPGLVHLGIC
KPLVEDNEEE
SCYILHSSSNEDKTEFSGTIHDINSSLILEAPKGFRDEPYFKEELVDEPFLDLGKSFHSQ
QKEIEQSKEAWEMHEFLTPRLQEMDEEREILVDEEYELYQDPSPSMELYPLSHIQEATPV
PSVNELHFGTQWLHDNEPSESQEARTGRTVYSQEAQPYGYCPENVMKENFVMESLPSVPS
TEGNSQQGRFDDLENLNSLAKTSLDLGMIPNDVQGPSLLIDLPVVAQRREQEDLPLYQHQ
ATRVISKASAYTGMLSSRYATDTCELPEREEGEGEETPNFSHWGPPRIVEIFREPNVSLG
ISIVGGQTVIKRLKNGEELKGIFIKQVLEDSPAGKTNALKTGDKILEVSGVDLQNASHSE
AVEAIKNAGNPVVFIVQ
SLSSTPRVIPNVHNKANKITGNQNQDTQEKKEKRQGTAPPPMK
LPPPYKALTDDSDENEEEDAFTDQKIRQRYADLPGELHIIELEKDKNGLGLSLAGNKDRS
RMSIFVVGINPEGPAAADGRMRIGDELLEINNQILYGRSHQNASAIIKTAPSKVKLVFI
R
NEDAVNQMAVTPFPVPSSSPSSIEDQSGTEPISSEEDGSVEVGIKQLPESESFKLAVSQM
KQQKYPTKVSFSSQEIPLAPASSYHSTDADFTGYGGFQAPLSVDPATCPIVPGQEMIIEI
SKGRSGLGLSIVGGKDTPLNAIVIHEVYEEGAAARDGRLWAGDQILEVNGVDLRNSSHEE
AITALRQTPQKVRLVVY
RDEAHYRDEENLEIFPVDLQKKAGRGLGLSIVGKRNGSGVFIS
DIVKGGAADLDGRLIQGDQILSVNGEDMRNASQETVATILKCAQGLVQLEIG
RLRAGSWT
SARTTSQNSQGSQQSAHSSCHPSFAPVITGLQNLVGTKRVSDPSQKNSGTDMEPRTVEIN
RELSDALGISIAGGRGSPLGDIPVFIAMIQASGVAARTQKLKVGDRIVSINGQPLDGLSH
ADVVNLLKNAYGRIILQVV
ADTNISAIAAQLENMSTGYHLGSPTAEHHPEDTEEQLQMTA
D
Sequence length 1801
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Hippo signaling pathway
Tight junction
Human papillomavirus infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Uncertain significance rs375861494 RCV005928929
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Crohn Disease Associate 18796002
Disorders of Excessive Somnolence Associate 33568662
Irritable Bowel Syndrome Associate 27445342, 33843785
Obesity Associate 33568662
Pain Associate 24275226
Retinoblastoma Associate 36362243