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    OCLN occludin [ Homo sapiens ]

    Gene ID: 100506658, updated on 19-May-2012
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    Summary

    Official Symbol
    OCLNprovided by HGNC
    Official Full Name
    occludinprovided by HGNC
    Primary source
    HGNC:8104
    Locus tag
    hCG_1988850
    See related
    Ensembl:ENSG00000197822; MIM:602876; Vega:OTTHUMG00000099356
    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; FLJ08163; FLJ18079; FLJ77961; FLJ94056; MGC34277
    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]
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    Genomic context

    Location :
    5q13.1
    Sequence :
    Chromosome: 5; NC_000005.9 (68788119..68853931)
    See OCLN in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene MARVEL domain containing 2 Neighboring gene ribosomal protein S27 pseudogene 14 Neighboring gene general transcription factor IIH, polypeptide 2C Neighboring gene NLR family, apoptosis inhibitory protein pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Interleukin-18 facilitates neutrophil transmigration via myosin light chain kinase-dependent disruption of occludin, without altering epithelial permeability. Lapointe TK, et al. Am J Physiol Gastrointest Liver Physiol, 2012 Feb 1. PMID 22135309.
    2. Chloride channel ClC-2 modulates tight junction barrier function via intracellular trafficking of occludin. Nighot PK, et al. Am J Physiol Cell Physiol, 2012 Jan. PMID 21956164.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Matrix metalloproteinase-2 and -9 secreted by leukemic cells increase the permeability of blood-brain barrier by disrupting tight junction proteins. Feng S, et al. PLoS One, 2011. PMID 21857898.

    See all (117) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. IL-18 may potentiate inflammation in the context of inflammatory bowel disease by facilitating neutrophil transepithelial migration via MLCK-dependent disruption of tight junctional occludin.
      Title: Interleukin-18 facilitates neutrophil transmigration via myosin light chain kinase-dependent disruption of occludin, without altering epithelial permeability.
    2. Data suggest that the degradation of tight junction proteins ZO-1, claudin-5 and occludin by MMP-2 and -9 secreted by leukemic cells constitutes an important mechanism in the BBB breakdown which contributes to the invasion of leukemic cells to the CNS.
      Title: Matrix metalloproteinase-2 and -9 secreted by leukemic cells increase the permeability of blood-brain barrier by disrupting tight junction proteins.
    3. ClC-2 is closely associated with tight junction protein occludin during early cell-to-cell contacts and the modulation of the tight junction barrier.
      Title: Chloride channel ClC-2 modulates tight junction barrier function via intracellular trafficking of occludin.
    4. PLSCR1 was required for the initial attachment of HCV onto hepatoma cells, where it specifically interacted with entry factor OCLN. We show that PLSCR1 is a novel attachment factor for HCV entry.
      Title: Phospholipid scramblase 1 mediates hepatitis C virus entry into host cells.
    5. In lower neovaginal mucosa where squamous metaplasia occurred, the expression of occludin and ZO-1 was significant;y elevated.
      Title: [Expression of occludin and zona occluden-1 and their morphologic changes in vagina mucosal cells in patients undergoing vaginal construction by using sigmoid colon].
    6. show that murine OCLN can sustain HCVcc entry, albeit with about 5-fold reduced efficiency compared to that of human OCLN
      Title: Impact of intra- and interspecies variation of occludin on its function as coreceptor for authentic hepatitis C virus particles.
    7. Expression of human factors CD81, claudin-1, scavenger receptor, and occludin in mouse hepatocytes does not confer susceptibility to hepatitis B virus entry into the liver.
      Title: Expression of human factors CD81, claudin-1, scavenger receptor, and occludin in mouse hepatocytes does not confer susceptibility to HCV entry.
    8. Suggest occludin plays a crucial role in the maintenance of tight junction barrier through the large-channel TJ pathway, the pathway responsible for the macromolecule flux.
      Title: Occludin regulates macromolecule flux across the intestinal epithelial tight junction barrier.
    9. occludin S408 dephosphorylation regulates paracellular permeability by remodeling tight junction protein dynamic behavior and intermolecular interactions between occludin, ZO-1, and select claudinszo
      Title: Occludin S408 phosphorylation regulates tight junction protein interactions and barrier function.
    10. occludin is required for cells to transduce cytokine-mediated signals that either increase the electrical barrier or decrease the large solute barrier, possibly by coordinating the functions of caveolin-1.
      Title: Occludin is required for cytokine-induced regulation of tight junction barriers.
    Submit: New GeneRIF Correction See all (72)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Band-like calcification with simplified gyration and polymicrogyria

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002529.1     BIND  PubMed T-beta-RI/T-beta-RII interacts with OCLN. This interaction was modeled on a demonstrated interaction between human T-beta-RI/T-beta-RII and mouse OCLN. 
    Q16625 P68133 ACTA1    HPRD  PubMed  
    Q16625 P48729 CSNK1A1    HPRD  PubMed  
    Q16625 P49674 CSNK1E    HPRD  PubMed  
    Q16625 P67870 CSNK2B    HPRD  PubMed  
    Q16625 P08034 GJB1    HPRD  PubMed  
    Q16625 Q96J02 ITCH    HPRD  PubMed  
    Q16625 Q16625 OCLN    HPRD  PubMed  
    Q16625 P17252 PRKCA    HPRD  PubMed  
    Q16625 P05771 PRKCB    HPRD  PubMed  
    Q16625 P05129 PRKCG    HPRD  PubMed  
    Q16625 Q13485 SMAD4    HPRD  PubMed  
    Q16625 Q9HCE7 SMURF1    HPRD  PubMed  
    Q16625 P36897 TGFBR1    HPRD  PubMed  
    Q16625 Q07157 TJP1    HPRD  PubMed  
    Q16625 Q9UDY2 TJP2    HPRD  PubMed  
    Q16625 O95049 TJP3    HPRD  PubMed  
    Q16625 P07947 YES1    HPRD  PubMed  
    BioGRID:111004 BioGRID:118965 EPN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:108374 EPS15    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:108971 GJB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:114593 HGS    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:123747 ITCH    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:116915 NEDD4L    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:119719 RAB8B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111004 BioGRID:112937 TJP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111004 BioGRID:114809 TJP2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111004 BioGRID:204209 Tjp1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111004 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:111004 BioGRID:113357 YES1    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Hepatitis C, organism-specific biosystem (from KEGG)
      Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Hepatitis C, conserved biosystem (from KEGG)
      Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
      Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
      Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    thiopurine S-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    S-adenosylhomocysteine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    S-adenosylmethionine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    cellular component disassembly involved in apoptosis TAS
    Traceable Author Statement
    more info
    		  
    protein complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to testosterone stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    occludin
    Names
    occludin
    tight junction protein occludin
    NP_001192183.1
    NP_001192184.1
    NP_002529.1
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    NCBI Reference Sequences (RefSeq)

    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
      5001..70813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205254.1 → NP_001192183.1  occludin isoform a

      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/TrEMBL
      A8K3T2
      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000379719, OTTHUMP00000222347, ENST00000396442, OTTHUMT00000369585
      Conserved Domains (2) summary
      pfam07303
      Location:420 – 519
      Blast Score: 370
      Occludin_ELL; Occludin homology domain
      pfam01284
      Location:58 – 210
      Blast Score: 162
      MARVEL; Membrane-associating domain

    2. NM_001205255.1 → NP_001192184.1  occludin isoform b precursor

      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/TrEMBL
      D2DU64
      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000445940, ENST00000538151
      Conserved Domains (1) summary
      pfam07303
      Location:169 – 268
      Blast Score: 320
      Occludin_ELL; Occludin homology domain

    3. NM_002538.3 → NP_002529.1  occludin isoform a

      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)
      AC145146, AC147575, AI093221, U49184, U53823
      Consensus CDS
      CCDS4006.1
      UniProtKB/Swiss-Prot
      Q16625
      Related
      ENSP00000347379, OTTHUMP00000125187, ENST00000355237, OTTHUMT00000216794
      Conserved Domains (2) summary
      pfam07303
      Location:420 – 519
      Blast Score: 370
      Occludin_ELL; Occludin homology domain
      pfam01284
      Location:58 – 210
      Blast Score: 162
      MARVEL; Membrane-associating domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      68788119..68853931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003315917.2 Reference GRCh37.p5 PATCHES

      Range
      275189..341052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      65744381..65800380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC142525.2 (73729..139592) None
    genomic AC145146.2 None
    genomic AC147575.1 (3474..55888) None
    genomic AF400630.1 AAL47094.1
    genomic CH471137.2 EAW51275.1
      EAW51276.1
    mRNA AB451306.1 BAG70120.1
    mRNA AB451437.1 BAG70251.1
    mRNA AI093221.1 None
    mRNA AK290697.1 BAF83386.1
    mRNA AK311037.1 None
    mRNA AK313501.1 None
    mRNA BC029886.1 AAH29886.1
    mRNA BK001650.1 DAA01837.1
    mRNA DB226845.1 None
    mRNA DQ786240.1 None
    mRNA FJ786083.1 ACT53743.1
    mRNA FJ786084.1 ACT53744.1
    mRNA GQ225096.1 ACT83431.1
    mRNA GQ225097.1 ACT83432.1
    mRNA GQ225098.1 ACT83433.1
    mRNA GQ402517.1 ACZ80515.1
    mRNA U49184.1 AAC50451.1
    mRNA U53823.1 AAB00195.1
    other-genetic DQ892423.2 ABM83349.1
    other-genetic DQ895637.2 ABM86563.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16625.1 GenPept UniProtKB/Swiss-Prot:Q16625
    Q5U1V4 GenPept UniProtKB/TrEMBL:Q5U1V4
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials
    Miscellaneous

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