OCLN occludin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69492547..69558104)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70316240..70383882)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68788374..68853931)

Chromosome 5 - NC_000005.10 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
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?

Association of serum occludin levels and perihematomal edema volumes in intracranial hemorrhage patients.
Title: Association of serum occludin levels and perihematomal edema volumes in intracranial hemorrhage patients.
Occludin is overexpressed in tubo-ovarian high-grade serous carcinoma compared to mesothelioma and is a marker of tumor progression and chemoresistance.
Title: Occludin is overexpressed in tubo-ovarian high-grade serous carcinoma compared to mesothelioma and is a marker of tumor progression and chemoresistance.
Roles of epidermal growth factor receptor, claudin-1 and occludin in multi-step entry of hepatitis C virus into polarized hepatoma spheroids.
Title: Roles of epidermal growth factor receptor, claudin-1 and occludin in multi-step entry of hepatitis C virus into polarized hepatoma spheroids.
Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder.
Title: Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder.
Hepatitis C Virus Disrupts Annexin 5-Mediated Occludin Integrity through Downregulation of Protein Kinase Calpha (PKCalpha) and PKCeta Expression, Thereby Promoting Viral Propagation.
Title: Hepatitis C Virus Disrupts Annexin 5-Mediated Occludin Integrity through Downregulation of Protein Kinase Cα (PKCα) and PKCη Expression, Thereby Promoting Viral Propagation.
Tight junction protein occludin is an internalization factor for SARS-CoV-2 infection and mediates virus cell-to-cell transmission.
Title: Tight junction protein occludin is an internalization factor for SARS-CoV-2 infection and mediates virus cell-to-cell transmission.
[Porphyromonas gingivalis infection causes umbilical vein endothelial barrier dysfunction in vitro by down-regulating ZO-1, occludin and VE-cadherin expression].
Title: [Porphyromonas gingivalis infection causes umbilical vein endothelial barrier dysfunction in vitro by down-regulating ZO-1, occludin and VE-cadherin expression].
The role of mir-197-3p in regulating the tight junction permeability of celiac disease patients under gluten free diet.
Title: The role of mir-197-3p in regulating the tight junction permeability of celiac disease patients under gluten free diet.
Does the Blood-Brain Barrier Integrity Change in Regard to the Onset of Fetal Growth Restriction?
Title: Does the Blood-Brain Barrier Integrity Change in Regard to the Onset of Fetal Growth Restriction?
MiR-224-5p Targeting OCLN Promotes the Proliferation, Migration, and Invasion of Clear Cell Renal Cell Carcinoma Cells.
Title: MiR-224-5p Targeting OCLN Promotes the Proliferation, Migration, and Invasion of Clear Cell Renal Cell Carcinoma Cells.

Submit: New GeneRIF Correction See all GeneRIFs (153)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pseudo-TORCH syndrome 1 MedGen: C4552078 OMIM: 251290 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

Ocln (e-PCR), detects polymorphism
- UniSTS:495893

D8S2279 (e-PCR)
- UniSTS:473907

STS-H94471 (e-PCR)
- UniSTS:52040

RH80030 (e-PCR)
- UniSTS:87680

STS-U19251 (e-PCR)
- UniSTS:77742

PMC310929P1 (e-PCR)
- UniSTS:272816

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
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 D-glucose import	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 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 D-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
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
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
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

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Preferred Names: occludin

Names: phosphatase 1, regulatory subunit 115

NP_001192183.1

EC 2.1.1.67

NP_001192184.1

EC 2.1.1.67

NP_001397672.1

EC 2.1.1.67

NP_002529.1

EC 2.1.1.67

XP_016864402.1

EC 2.1.1.67

XP_047272549.1

EC 2.1.1.67

XP_047272550.1

EC 2.1.1.67

XP_054185462.1

EC 2.1.1.67

XP_054185463.1

EC 2.1.1.67

XP_054188984.1

EC 2.1.1.67

XP_054188985.1

EC 2.1.1.67

XP_054188986.1

EC 2.1.1.67

XP_054207355.1

EC 2.1.1.67

XP_054207356.1

EC 2.1.1.67

XP_054207357.1

EC 2.1.1.67

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.

Genomic

NG_028291.1 RefSeqGene

Range

5499..70813

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001205254.2 → NP_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

B5BU70, D2DU64, D2DU65, D2IGC0, D2IGC1, E2CYV9, Q16625, Q5U1V4, Q8N6K1

UniProtKB/TrEMBL

A8K3T2

Related

ENSP00000379719.2, ENST00000396442.7

Conserved Domains (2) summary

pfam01284
Location:58 → 263

MARVEL; Membrane-associating domain

pfam07303
Location:423 → 518

Occludin_ELL; Occludin homology domain
NM_001205255.1 → NP_001192184.1 occludin isoform b

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:169 → 268

Occludin_ELL; Occludin homology domain
NM_001410743.1 → NP_001397672.1 occludin isoform c

Status: REVIEWED

Source sequence(s)

AC145146, AC147575

Consensus CDS

CCDS93725.1
NM_002538.4 → NP_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

B5BU70, D2DU64, D2DU65, D2IGC0, D2IGC1, E2CYV9, Q16625, Q5U1V4, Q8N6K1

UniProtKB/TrEMBL

A8K3T2

Related

ENSP00000347379.2, ENST00000355237.6

Conserved Domains (2) summary

pfam01284
Location:58 → 263

MARVEL; Membrane-associating domain

pfam07303
Location:423 → 518

Occludin_ELL; Occludin homology domain