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OCLN occludin [ Homo sapiens (human) ]

Gene ID: 100506658, updated on 4-Dec-2022

Summary

Official Symbol
OCLNprovided by HGNC
Official Full Name
occludinprovided by HGNC
Primary source
HGNC:HGNC:8104
See related
Ensembl:ENSG00000197822 MIM:602876; AllianceGenome:HGNC:8104
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
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Genomic context

See OCLN in Genome Data Viewer
Location:
5q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69492547..69558104)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70318187..70383882)
105.20220307 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apicolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
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 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
XP_047272549.1
XP_047272550.1

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
    5499..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, Q8N6K1
    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:169268
    Occludin_ELL; Occludin homology domain
  3. NM_001410743.1NP_001397672.1  occludin isoform c

    Status: REVIEWED

    Source sequence(s)
    AC145146, AC147575
    Consensus CDS
    CCDS93725.1
  4. 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, Q8N6K1
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047416593.1XP_047272549.1  occludin isoform X1

    UniProtKB/Swiss-Prot
    Q8N6K1
  2. XM_017008914.3XP_016864403.1  occludin isoform X2

    UniProtKB/Swiss-Prot
    Q16625
    Conserved Domains (2) summary
    pfam01284
    Location:58213
    MARVEL; Membrane-associating domain
    pfam07303
    Location:369464
    Occludin_ELL; Occludin homology domain
  3. XM_017008913.3XP_016864402.1  occludin isoform X2

    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
  4. XM_047416594.1XP_047272550.1  occludin isoform X1

    UniProtKB/Swiss-Prot
    Q8N6K1

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791777.1 Reference GRCh38.p14 PATCHES

    Range
    159107..224819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    70318187..70383882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)