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FLASH GENE

Symbol

OCLN

contributors: npt/mct/pgu - updated : 03-06-2014

HGNC name	occludin
HGNC id	8104

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BCPMG band-like calcification with simplified gyration and polymicrogyria
Location	5q13.2      Physical location : 68.788.118 - 68.850.130
Synonym name	tight junction protein occludin TM4 minus
EC.number	2.1.1.67

DNA

TYPE	functioning gene
STRUCTURE	65.81 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	an additional promoter and transcription start giving rise to an alternative exon 1

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	remarkable natural splicing diversity of OCLN might contribute to HCV tissue tropism and possibly modify the outcome of HCV infection in humans (PMID: 20463075)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002538 9 - 6451 NP_002529 65 522 - 2010 20463075 NM_001205254 9 - 6221 NP_001192183 - 522 - 2010 20463075 NM_001205255 7 - 5404 NP_001192184 - 271 - 2010 20463075

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Nervous brain       highly Reproductive male system testis     highly Respiratory respiratory tract trachea     highly Urinary kidney       highly

cells

System Cell Pubmed Species Stage Rna symbol   epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

Text	in the developing human brain, occludin is expressed early in neuroepithelium, but expression is lost during the transition from epithelia to neuronal cell types

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal extracellular domains mediate homotypic adhesion
	the four membrane spanning domains and the extracellular and intracellular loops contain sequences that constitute a MARVEL domain hypothesized to confer trafficking properties
	C-terminal cytoplasmic domain controls protein targeting and endocytosis, is heavily phosphorylated, and S408 phosphorylation regulates tight junction protein interactions and barrier function , with the distal C terminus(AAs 413-452, forming a coiled-coil region necessary for TJP1 binding , coiled-coil occludin/ELL domain (OCEL)
	an N and C terminus within the cytoplasm

HOMOLOGY

Homologene

FAMILY

ELL/occludin family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,tight
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	protein constituent of integral membrane at tight junctions of epithelial cells
	localizes with centrosomes during interphase and occludin Ser-490 phosphorylation at centrosomes increases with mitotic entry

basic FUNCTION	accessory protein in tight junction strands formation, playing a role in both the formation of the paracellular barrier and in cell signaling
	involved in the regulation of paracellular permeability as well as in the targeting of the protein to the tight junction
	colocalised in the salivary excretory ducts with the tight junction proteins TJP1 and CLDN16 suggesting a potential role in paracellular calcium and magnesium transport
	MARVELD3, OCLN, and MARVELD2 are best considered as a group with both redundant and unique contributions to epithelial function and tight junction regulation
	integral tight junction protein, that is one of the key factors for HCV entry into cells
	roles in epithelial barrier formation and maintenance
	contributes to centrosomal separation and mitotic entry through Ser-490 phosphorylation
	role for occludin in centrosome separation providing compelling evidence for a role of occludin in the regulation of mitotic entry
	is involved in adhesion, apoptosis, differentiation and Ca2+-homeostasis of human keratinocytes (pmid: 23390516)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	MARVELD3, OCLN, and MARVELD2 define the tight junction-associated MARVEL protein family
	ABCB1 and an integrated component of the occludin/zonula occludens 1 (TJP1) adhesion complex at the BTB, structurally interacted with PTK2, creating the OCLN/TJP1/PTK2/ABCB1 regulatory complex

INTERACTION

DNA

RNA

small molecule

protein	C terminus can also bind to the scaffolding proteins TJP1, TJP2, TJP3, cingulin, the membrane trafficking protein VAP33, and the cytoskeletal protein F-actin
	OCLN supports tricellular localization of MARVELD2 by excluding MARVELD2 from bTJs (bicellular tight junctions)
	interaction with PTPRJ and TJP1 specific (occludin and TJP1 were dephosphorylated by PTPRJ but not the other phosphatases)
	target of VEGFA action in the blood-brain barrier
	NKX2-1 transactivated the expression of the epithelial tight junction molecules occludin (OCLN) and CLDN1
	CELF1 represses OCLN translation by increasing occludin mRNA recruitment to P-bodies
	ELAVL1 promotes OCLN translation by blocking occludin mRNA translocation to P-bodies via the displacement of ELAVL1
	OCLN, MARVELD3 and MARVELD2 exhibited homophilic cis-interactions, along one plasma membrane (claudins regulate the interactions between OCLN, MARVELD2 and MARVELD3, which, inversely, modulate claudin oligomerization)
	OCEL-domain interactions are required for maintenance and regulation of the tight junction barrier to macromolecular flux
	KLF4 regulates blood-tumor barrier permeability via TJP1, OCLN and CLDN5

cell & other

REGULATION

Other

phosphorylation of OCLN Ser-490 contributes to centrosome function in cell division derives from mutational analysis preventing Ser-490 phosphorylation

ASSOCIATED DISORDERS

corresponding disease(s)

BCPMG

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in Alzheimer disease and vascular dementia tumoral     --other   aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia constitutional       loss of function OCLN deficiency with BACE1 elevation in cerebral amyloid angiopathy (CAA)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS