InnateDB Protein
|
IDBP-598373.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
OCLN
|
Protein Name
|
occludin
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000445940
|
InnateDB Gene
|
IDBG-26117 (OCLN)
|
Protein Structure
|
|
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. {ECO:0000269PubMed:19114660}.
|
Subcellular Localization |
Membrane; Multi-pass membrane protein. Cell junction, tight junction.
|
Disease Associations |
Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290]: 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. {ECO:0000269PubMed:20727516}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
35
[view]
|
Protein-Protein |
31
[view]
|
Protein-DNA |
4
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
4 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR002958
Occludin
IPR010844
Occludin/RNA polymerase II elongation factor, ELL domain
|
PFAM |
PF07303
|
PRINTS |
PR01258
|
PIRSF |
PIRSF005993
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q16625
|
PhosphoSite |
PhosphoSite-Q16625
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
100506658
|
UniGene |
Hs.671081
|
RefSeq |
NP_001192184
|
HUGO |
HGNC:8104
|
OMIM |
602876
|
CCDS |
CCDS54864
|
HPRD |
|
IMGT |
|
EMBL |
AB451306
AB451437
AC145146
AC147575
AF400623
AF400624
AF400625
AF400626
AF400627
AF400628
AF400629
AF400630
BC029886
BK001650
FJ786083
FJ786084
GQ225096
GQ225097
GQ225098
GQ402517
U49184
U53823
|
GenPept |
AAB00195
AAC50451
AAH29886
AAL47094
ACT53743
ACT53744
ACT83431
ACT83432
ACT83433
ACZ80515
BAG70120
BAG70251
DAA01837
|
|
|