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    OCLN occludin [ Homo sapiens (human) ]

    Gene ID: 100506658, updated on 8-Jul-2021

    Summary

    Official Symbol
    OCLNprovided by HGNC
    Official Full Name
    occludinprovided by HGNC
    Primary source
    HGNC:HGNC:8104
    See related
    Ensembl:ENSG00000197822 MIM:602876
    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
    BLCPMG; PTORCH1; PPP1R115
    Summary
    This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
    Expression
    Broad expression in thyroid (RPKM 16.6), lung (RPKM 10.9) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See OCLN in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (69492547..69558104)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68788374..68853931)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928924 Neighboring gene ribosomal protein S27 pseudogene 14 Neighboring gene RNA, 7SL, cytoplasmic 616, pseudogene Neighboring gene RNA, U6 small nuclear 724, pseudogene Neighboring gene small nucleolar RNA, C/D box 13B-1 Neighboring gene GTF2H2 family member C Neighboring gene NAIP pseudogene 3

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
    env HIV-1 JRFL and HXB2 (gp120) downregulates OCLN (Occludin) in ARPE-19 cells and is dependent upon MMP activation PubMed
    env The expression of tight junctions proteins ZO-1, JAM-2, Occludin, Claudin-3 and Claudin-5 is modulated by HIV-1 gp120, and the modulated TJ expression involves Rho-A activation PubMed
    env Treatment of cultured human brain endothelial cells with HIV-1 gp120 results in increased permeability of the endothelial monolayer and causes disruption and downregulation of the tight junction proteins ZO-1, ZO-2, and occludin in these cells PubMed
    Nef nef Exogenous Nef taken up by Caco-2 cells increases intestinal epithelial permeability, inhibits the IFN-gamma-induced reduction of transepitelial resistance and decreases the tight junction proteins occludin and ZO-1 expression PubMed
    Tat tat HIV-1 Tat downregulates OCLN (occludin) and LRP1 and upregulates AGER (RAGE), and in a RhoA/ROCK1 dependent manner as shown through hydroxyfasudil inhibition in hCMEC/D3 cells PubMed
    tat HIV-1 Tat protein increases the permeability of primary human brain micro vascular endothelial cells by both inhibiting occludin expression and cleaving occludin via matrix metalloproteinase-9 PubMed
    tat HIV-1 Tat-mediated downregulation of occludin expression requires activities of the RhoA and p160-Rho-associated coiled kinase (ROCK) proteins in primary human brain micro vascular endothelial cells PubMed
    tat Exposure to Tat diminishes the expression of several tight junction proteins, including occludin, zonula occludens (ZO)-1, and ZO-2 in the caveolar fraction of human brain micro vascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ08163, FLJ18079, FLJ77961, FLJ94056, MGC34277

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of blood-brain barrier permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of microtubule polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of glucose transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to interleukin-18 IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    located_in cell junction TAS
    Traceable Author Statement
    more info
     
    located_in cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tight junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    occludin
    Names
    phosphatase 1, regulatory subunit 115
    NP_001192183.1
    NP_001192184.1
    NP_002529.1
    XP_016864402.1
    XP_016864403.1

    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.

    Genomic

    1. NG_028291.1 RefSeqGene

      Range
      5256..70813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205254.2NP_001192183.1  occludin isoform a

      See identical proteins and their annotated locations for NP_001192183.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC147575, AI093221, AK290697, BC029886, DB226845
      Consensus CDS
      CCDS4006.1
      UniProtKB/Swiss-Prot
      Q16625
      UniProtKB/TrEMBL
      A8K3T2
      Related
      ENSP00000379719.2, ENST00000396442.7
      Conserved Domains (2) summary
      pfam01284
      Location:58263
      MARVEL; Membrane-associating domain
      pfam07303
      Location:423518
      Occludin_ELL; Occludin homology domain
    2. NM_001205255.1NP_001192184.1  occludin isoform b precursor

      See identical proteins and their annotated locations for NP_001192184.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a. The 5' UTR of this variant is incomplete due to a lack of 5'-complete transcripts containing this exon combination and the presence of splicing ambiguity at the 5' end.
      Source sequence(s)
      AC147575, AI093221, FJ786083, U49184
      Consensus CDS
      CCDS54864.1
      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000445940.1, ENST00000538151.2
      Conserved Domains (1) summary
      pfam07303
      Location:172267
      Occludin_ELL; Occludin homology domain
    3. NM_002538.4NP_002529.1  occludin isoform a

      See identical proteins and their annotated locations for NP_002529.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode isoform a.
      Source sequence(s)
      AC147575, AI093221, U49184, U53823
      Consensus CDS
      CCDS4006.1
      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000347379.2, ENST00000355237.6
      Conserved Domains (2) summary
      pfam01284
      Location:58263
      MARVEL; Membrane-associating domain
      pfam07303
      Location:423518
      Occludin_ELL; Occludin homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      69492547..69558104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008914.2XP_016864403.1  occludin isoform X1

      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000504966.1, ENST00000680496.1
      Conserved Domains (2) summary
      pfam01284
      Location:58213
      MARVEL; Membrane-associating domain
      pfam07303
      Location:369464
      Occludin_ELL; Occludin homology domain
    2. XM_017008913.2XP_016864402.1  occludin isoform X1

      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000506305.1, ENST00000680784.1
      Conserved Domains (2) summary
      pfam01284
      Location:58213
      MARVEL; Membrane-associating domain
      pfam07303
      Location:369464
      Occludin_ELL; Occludin homology domain

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      275444..341052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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