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Protein

Occludin

Gene

OCLN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB

GO - Biological processi

  • bicellular tight junction assembly Source: UniProtKB
  • cell-cell junction organization Source: MGI
  • cellular response to tumor necrosis factor Source: Ensembl
  • protein-containing complex assembly Source: ProtInc
  • regulation of bicellular tight junction assembly Source: Reactome
  • response to interleukin-18 Source: Ensembl

Enzyme and pathway databases

ReactomeiR-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-8935964 RUNX1 regulates expression of components of tight junctions
SIGNORiQ16625

Protein family/group databases

TCDBi9.B.41.1.1 the occludin (occludin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Occludin
Gene namesi
Name:OCLN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000197822.10
HGNCiHGNC:8104 OCLN
MIMi602876 gene
neXtProtiNX_Q16625

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 66CytoplasmicSequence analysisAdd BLAST66
Transmembranei67 – 89HelicalSequence analysisAdd BLAST23
Topological domaini90 – 135Extracellular1 PublicationAdd BLAST46
Transmembranei136 – 160HelicalSequence analysisAdd BLAST25
Topological domaini161 – 170CytoplasmicSequence analysis10
Transmembranei171 – 195HelicalSequence analysisAdd BLAST25
Topological domaini196 – 243ExtracellularSequence analysisAdd BLAST48
Transmembranei244 – 265HelicalSequence analysisAdd BLAST22
Topological domaini266 – 522CytoplasmicSequence analysisAdd BLAST257

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Pseudo-TORCH syndrome 1 (PTORCH1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive 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.
See also OMIM:251290
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064910219F → S in PTORCH1. 1 PublicationCorresponds to variant dbSNP:rs267606926EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi398Y → A: Loss of phosphorylation and loss of regulation of TJP1 binding; when associated with A-402. 1 Publication1
Mutagenesisi398Y → D: Loss of phosphorylation, almost complete loss of binding to TJP1, loss of regulation of TJP1 binding and loss of localization to plasma membrane and sites of cell-cell contact; when associated with D-402. 1 Publication1
Mutagenesisi398Y → F: Loss of phosphorylation, decrease in binding to TJP1 and significant loss of regulation of TJP1 binding; when associated with F-402. 1 Publication1
Mutagenesisi402Y → A: Loss of phosphorylation and loss of regulation of TJP1 binding; when associated with A-398. 1 Publication1
Mutagenesisi402Y → D: Loss of phosphorylation, almost complete loss of binding to TJP1, loss of regulation of TJP1 binding and loss of localization to plasma membrane and sites of cell-cell contact; when associated with D-398. 1 Publication1
Mutagenesisi402Y → F: Loss of phosphorylation, decrease in binding to TJP1 and significant loss of regulation of TJP1 binding; when associated with F-398. 1 Publication1
Mutagenesisi404T → A: Loss of localization to the tight junctions. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi100506658
MalaCardsiOCLN
MIMi251290 phenotype
OpenTargetsiENSG00000197822
Orphaneti1229 Congenital intrauterine infection-like syndrome
PharmGKBiPA31893

Polymorphism and mutation databases

BioMutaiOCLN
DMDMi3914196

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001467391 – 522OccludinAdd BLAST522

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi216 ↔ 2371 Publication
Modified residuei302PhosphoserineBy similarity1
Modified residuei305PhosphothreonineBy similarity1
Modified residuei313PhosphoserineCombined sources1
Modified residuei321PhosphoserineCombined sources1
Modified residuei340PhosphoserineBy similarity1
Modified residuei368PhosphotyrosineCombined sources1
Modified residuei369PhosphoserineCombined sources1
Modified residuei370PhosphoserineCombined sources1
Modified residuei398Phosphotyrosine1 Publication1
Modified residuei402Phosphotyrosine1 Publication1
Modified residuei403Phosphothreonine; by PKC/PRKCH1 Publication1
Modified residuei404Phosphothreonine; by PKC/PRKCH1 Publication1
Modified residuei408PhosphoserineCombined sources1
Modified residuei490Phosphoserine1 Publication1

Post-translational modificationi

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 TJP1.4 Publications

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiQ16625
MaxQBiQ16625
PaxDbiQ16625
PeptideAtlasiQ16625
PRIDEiQ16625
ProteomicsDBi60966
60967 [Q16625-2]
60968 [Q16625-3]
60969 [Q16625-4]
60970 [Q16625-5]
60971 [Q16625-6]
60972 [Q16625-7]
TopDownProteomicsiQ16625-3 [Q16625-3]
Q16625-6 [Q16625-6]

PTM databases

iPTMnetiQ16625
PhosphoSitePlusiQ16625

Miscellaneous databases

PMAP-CutDBiQ16625

Expressioni

Tissue specificityi

Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.

Gene expression databases

BgeeiENSG00000197822
CleanExiHS_OCLN
GenevisibleiQ16625 HS

Organism-specific databases

HPAiCAB013075
CAB068212
CAB068213
CAB068214
HPA005933

Interactioni

Subunit structurei

Interacts with TJP1/ZO1 (PubMed:19017651). Interacts with VAPA (PubMed:10523508). Interacts with CLDN1, CLDN6, CLDN9, CLDN11, CLDN12 and CLDN17 (PubMed:20375010).3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111004, 68 interactors
DIPiDIP-42791N
IntActiQ16625, 16 interactors
MINTiQ16625
STRINGi9606.ENSP00000347379

Structurei

Secondary structure

1522
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni417 – 419Combined sources3
Helixi426 – 466Combined sources41
Helixi472 – 488Combined sources17
Helixi491 – 520Combined sources30

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WPAX-ray1.50A413-522[»]
1XAWX-ray1.45A383-522[»]
3G7CX-ray2.00A416-522[»]
ProteinModelPortaliQ16625
SMRiQ16625
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16625

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini60 – 269MARVELPROSITE-ProRule annotationAdd BLAST210

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili426 – 489Sequence analysisAdd BLAST64

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi92 – 131Gly/Tyr-richAdd BLAST40

Domaini

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.By similarity1 Publication

Sequence similaritiesi

Belongs to the ELL/occludin family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGK8 Eukaryota
ENOG4110E0E LUCA
GeneTreeiENSGT00730000110989
HOGENOMiHOG000233490
HOVERGENiHBG004523
InParanoidiQ16625
KOiK06088
OMAiYAPSNDM
OrthoDBiEOG091G0BWN
PhylomeDBiQ16625
TreeFamiTF326161

Family and domain databases

InterProiView protein in InterPro
IPR031176 ELL/occludin
IPR008253 Marvel
IPR036259 MFS_trans_sf
IPR002958 Occludin
IPR010844 Occludin_ELL
PANTHERiPTHR23288 PTHR23288, 1 hit
PTHR23288:SF4 PTHR23288:SF4, 1 hit
PfamiView protein in Pfam
PF01284 MARVEL, 1 hit
PF07303 Occludin_ELL, 1 hit
PIRSFiPIRSF005993 Occludin, 1 hit
PRINTSiPR01258 OCCLUDIN
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS51225 MARVEL, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16625-1) [UniParc]FASTAAdd to basket
Also known as: WT-OCLN, TM4(+)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSRPLESPP PYRPDEFKPN HYAPSNDIYG GEMHVRPMLS QPAYSFYPED
60 70 80 90 100
EILHFYKWTS PPGVIRILSM LIIVMCIAIF ACVASTLAWD RGYGTSLLGG
110 120 130 140 150
SVGYPYGGSG FGSYGSGYGY GYGYGYGYGG YTDPRAAKGF MLAMAAFCFI
160 170 180 190 200
AALVIFVTSV IRSEMSRTRR YYLSVIIVSA ILGIMVFIAT IVYIMGVNPT
210 220 230 240 250
AQSSGSLYGS QIYALCNQFY TPAATGLYVD QYLYHYCVVD PQEAIAIVLG
260 270 280 290 300
FMIIVAFALI IFFAVKTRRK MDRYDKSNIL WDKEHIYDEQ PPNVEEWVKN
310 320 330 340 350
VSAGTQDVPS PPSDYVERVD SPMAYSSNGK VNDKRFYPES SYKSTPVPEV
360 370 380 390 400
VQELPLTSPV DDFRQPRYSS GGNFETPSKR APAKGRAGRS KRTEQDHYET
410 420 430 440 450
DYTTGGESCD ELEEDWIREY PPITSDQQRQ LYKRNFDTGL QEYKSLQSEL
460 470 480 490 500
DEINKELSRL DKELDDYREE SEEYMAAADE YNRLKQVKGS ADYKSKKNHC
510 520
KQLKSKLSHI KKMVGDYDRQ KT
Length:522
Mass (Da):59,144
Last modified:November 1, 1996 - v1
Checksum:iA0CF9574BCF6E974
GO
Isoform 2 (identifier: Q16625-2) [UniParc]FASTAAdd to basket
Also known as: OCLN-ex4del, TM4(-)

The sequence of this isoform differs from the canonical sequence as follows:
     244-297: Missing.

Show »
Length:468
Mass (Da):52,706
Checksum:i570C03F39D5B9F09
GO
Isoform 3 (identifier: Q16625-3) [UniParc]FASTAAdd to basket
Also known as: OCLN-ex7ext

The sequence of this isoform differs from the canonical sequence as follows:
     476-522: AAADEYNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT → VNST

Show »
Length:479
Mass (Da):54,124
Checksum:iBAC5CDCFD4AB3FE9
GO
Isoform 4 (identifier: Q16625-4) [UniParc]FASTAAdd to basket
Also known as: OCLN-ex3del, OCLN-ex3pdel

The sequence of this isoform differs from the canonical sequence as follows:
     1-251: Missing.

Show »
Length:271
Mass (Da):31,602
Checksum:i17110B0747658560
GO
Isoform 5 (identifier: Q16625-5) [UniParc]FASTAAdd to basket
Also known as: OCLN-ex3-4del

The sequence of this isoform differs from the canonical sequence as follows:
     1-251: Missing.
     252-322: Missing.

Show »
Length:200
Mass (Da):23,324
Checksum:iCA521768CF62815F
GO
Isoform 6 (identifier: Q16625-6) [UniParc]FASTAAdd to basket
Also known as: OCLN-ex3p-9pdel

The sequence of this isoform differs from the canonical sequence as follows:
     50-69: DEILHFYKWTSPPGVIRILS → ESLQAVKEQIVTHQEDGWRL
     70-70: Missing.
     71-522: Missing.

Show »
Length:69
Mass (Da):8,033
Checksum:i44E322DFFA119B8E
GO
Isoform 7 (identifier: Q16625-7) [UniParc]FASTAAdd to basket
Also known as: OCLN-ex3p-7pdel

The sequence of this isoform differs from the canonical sequence as follows:
     52-70: ILHFYKWTSPPGVIRILSM → MTIEKKVKSTWLLLMNTID
     71-522: Missing.

Show »
Length:70
Mass (Da):8,175
Checksum:iFF4DA5B4703A5BAD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti233L → S in AAH29886 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064910219F → S in PTORCH1. 1 PublicationCorresponds to variant dbSNP:rs267606926EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0438721 – 251Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST251
Alternative sequenceiVSP_04387350 – 69DEILH…IRILS → ESLQAVKEQIVTHQEDGWRL in isoform 6. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_04387452 – 70ILHFY…RILSM → MTIEKKVKSTWLLLMNTID in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_04387570Missing in isoform 6. 1 Publication1
Alternative sequenceiVSP_04387671 – 522Missing in isoform 6 and isoform 7. 1 PublicationAdd BLAST452
Alternative sequenceiVSP_043877244 – 297Missing in isoform 2. CuratedAdd BLAST54
Alternative sequenceiVSP_043878252 – 322Missing in isoform 5. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_043879476 – 522AAADE…DRQKT → VNST in isoform 3. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49184 mRNA Translation: AAC50451.1
U53823 mRNA Translation: AAB00195.1
FJ786083 mRNA Translation: ACT53743.1
FJ786084 mRNA Translation: ACT53744.1
AF400630
, AF400623, AF400624, AF400625, AF400626, AF400627, AF400628, AF400629 Genomic DNA Translation: AAL47094.1
GQ225096 mRNA Translation: ACT83431.1
GQ225097 mRNA Translation: ACT83432.1
GQ225098 mRNA Translation: ACT83433.1
GQ402517 mRNA Translation: ACZ80515.1
AB451306 mRNA Translation: BAG70120.1
AB451437 mRNA Translation: BAG70251.1
AC145146 Genomic DNA No translation available.
AC147575 Genomic DNA No translation available.
BC029886 mRNA Translation: AAH29886.1
BK001650 mRNA Translation: DAA01837.1
CCDSiCCDS4006.1 [Q16625-1]
CCDS54864.1 [Q16625-4]
PIRiG02533
RefSeqiNP_001192183.1, NM_001205254.1 [Q16625-1]
NP_001192184.1, NM_001205255.1 [Q16625-4]
NP_002529.1, NM_002538.3 [Q16625-1]
XP_016864402.1, XM_017008913.1 [Q16625-2]
XP_016864403.1, XM_017008914.1 [Q16625-2]
UniGeneiHs.592605

Genome annotation databases

EnsembliENST00000355237; ENSP00000347379; ENSG00000197822 [Q16625-1]
ENST00000396442; ENSP00000379719; ENSG00000197822 [Q16625-1]
ENST00000538151; ENSP00000445940; ENSG00000197822 [Q16625-4]
GeneIDi100506658
KEGGihsa:100506658
UCSCiuc003jwu.3 human [Q16625-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiOCLN_HUMAN
AccessioniPrimary (citable) accession number: Q16625
Secondary accession number(s): B5BU70
, D2DU64, D2DU65, D2IGC0, D2IGC1, E2CYV9, Q5U1V4, Q8N6K1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1996
Last modified: June 20, 2018
This is version 169 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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