Linked Life Data

Q16625

Source:http://identifiers.org/uniprot/Q16625

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
FUNCTION: May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions. SUBUNIT: Interacts with TJP1/ZO1 and with VAPA. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell junction, tight junction. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=WT-OCLN, TM4(+); IsoId=Q16625-1; Sequence=Displayed; Name=2; Synonyms=OCLN-ex4del, TM4(-); IsoId=Q16625-2; Sequence=VSP_043877; Name=3; Synonyms=OCLN-ex7ext; IsoId=Q16625-3; Sequence=VSP_043879; Name=4; Synonyms=OCLN-ex3del, OCLN-ex3pdel; IsoId=Q16625-4; Sequence=VSP_043872; Name=5; Synonyms=OCLN-ex3-4del; IsoId=Q16625-5; Sequence=VSP_043872, VSP_043878; Name=6; Synonyms=OCLN-ex3p-9pdel; IsoId=Q16625-6; Sequence=VSP_043873, VSP_043875, VSP_043876; Name=7; Synonyms=OCLN-ex3p-7pdel; IsoId=Q16625-7; Sequence=VSP_043874, VSP_043876; TISSUE SPECIFICITY: Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis. DOMAIN: The C-terminal is cytoplasmic and is important for interaction with ZO-1. Sufficient for the tight junction localization. Involved in the regulation of the permeability barrier function of the tight junction (By similarity). The first extracellular loop participates in an adhesive interaction. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. Dephosphorylated by PTPRJ. The tyrosine phosphorylation on Tyr-398 and Tyr-402 reduces its ability to interact with TJP1. Phosphorylation at Ser-490 also attenuates the interaction with TJP1. DISEASE: Defects in OCLN are the cause of band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290]; also known as pseudo-TORCH syndrome. BLCPMG is a neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. SIMILARITY: Belongs to the ELL/occludin family. SIMILARITY: Contains 1 MARVEL domain. WEB RESOURCE: Name=Wikipedia; Note=Occludin entry; URL="http://en.wikipedia.org/wiki/Occludin"; GENE SYNONYMS:OCLN. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 522 AA; 59144 MW; A0CF9574BCF6E974 CRC64;
biopax3:xref
biopax3:displayName
OCLN_HUMAN
biopax3:name
OCLN
biopax3:entityFeature
biopax3:organism
biopax3:sequence
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIFACVASTLAWDRGYGTSLLGGSVGYPYGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSVIRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVDPQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDKSNILWDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYETDYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADEYNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT
biopax3:standardName
Occludin