OCLN
Occludin
Also known as: OCLN_HUMAN, PPP1R115
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16625
- Gene
- OCLN
- Ensembl
- ENSG00000197822
- Chromosome
- 5
- Canonical length
- 522 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane,Cell Junctions
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
522 residues, UniProt reviewed canonical sequence.
>Q16625|OCLN
1 MSSRPLESPP PYRPDEFKPN HYAPSNDIYG GEMHVRPMLS QPAYSFYPED EILHFYKWTS
61 PPGVIRILSM LIIVMCIAIF ACVASTLAWD RGYGTSLLGG SVGYPYGGSG FGSYGSGYGY
121 GYGYGYGYGG YTDPRAAKGF MLAMAAFCFI AALVIFVTSV IRSEMSRTRR YYLSVIIVSA
181 ILGIMVFIAT IVYIMGVNPT AQSSGSLYGS QIYALCNQFY TPAATGLYVD QYLYHYCVVD
241 PQEAIAIVLG FMIIVAFALI IFFAVKTRRK MDRYDKSNIL WDKEHIYDEQ PPNVEEWVKN
301 VSAGTQDVPS PPSDYVERVD SPMAYSSNGK VNDKRFYPES SYKSTPVPEV VQELPLTSPV
361 DDFRQPRYSS GGNFETPSKR APAKGRAGRS KRTEQDHYET DYTTGGESCD ELEEDWIREY
421 PPITSDQQRQ LYKRNFDTGL QEYKSLQSEL DEINKELSRL DKELDDYREE SEEYMAAADE
481 YNRLKQVKGS ADYKSKKNHC KQLKSKLSHI KKMVGDYDRQ KTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against OCLN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- thyroid gland: 29 nTPM
- liver: 18 nTPM
- stomach: 14 nTPM
- lung: 14 nTPM
- pancreas: 14 nTPM
- rectum: 10 nTPM
Single-cell type
- distal convoluted tubule cells: 135 nCPM
- renal collecting duct intercalated cells: 111 nCPM
- loop of henle epithelial cells: 96 nCPM
- papillary tip epithelial cells: 80 nCPM
- renal connecting tubule cells: 76 nCPM
- choroid plexus epithelial cells: 63 nCPM
Immune cell
- neutrophil: 2.6 nTPM
- basophil: 0.9 nTPM
- eosinophil: 0.5 nTPM
- NK-cell: 0.4 nTPM
- naive B-cell: 0.3 nTPM
- plasmacytoid DC: 0.3 nTPM
Brain region
- choroid plexus: 45 nTPM
- medulla oblongata: 18 nTPM
- pons: 16 nTPM
- midbrain: 14 nTPM
- white matter: 13 nTPM
- cerebellum: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about OCLN.
Disease | AllUniProt
Conditions OCLN is implicated in, by any mechanism.
- Pseudo-TORCH syndrome 1 (PTORCH1) MIM:251290
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 163 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Pseudo-TORCH syndrome 1
- OCLN-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.95
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.32
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bicellular tight junction assembly
- cell-cell junction organization
- epithelial cell migration
- maintenance of blood-brain barrier
- negative regulation of gene expression
- positive regulation of blood-brain barrier permeability
- positive regulation of D-glucose import
- positive regulation of gene expression
- positive regulation of lamellipodium assembly
- positive regulation of microtubule polymerization
- positive regulation of wound healing
- protein localization to cell leading edge
- protein-containing complex assembly
- regulation of D-glucose transmembrane transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of OCLN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OCLN as an antibody target. Whether an autoantibody or antibody against OCLN could matter depends on whether native OCLN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OCLN is annotated at the cell surface, where native OCLN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label OCLN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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