Version 5.4
Homo sapiens Protein: ORMDL3
Summary
InnateDB Protein IDBP-762710.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ORMDL3
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000464693
InnateDB Gene IDBG-46691 (ORMDL3)
Protein Structure
UniProt Annotation
Function Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling. {ECO:0000269PubMed:20182505}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:12093374, ECO:0000269PubMed:19819884}; Multi- pass membrane protein {ECO:0000269PubMed:12093374, ECO:0000269PubMed:19819884}.
Disease Associations Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269PubMed:18395550, ECO:0000269PubMed:18760456, ECO:0000269PubMed:19133921}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus. {ECO:0000269PubMed:12093374}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 6 [view]
Protein-DNA 3 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006672 ceramide metabolic process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0035339 SPOTS complex
Protein Structure and Domains
PDB ID
InterPro IPR007203 ORMDL
PFAM PF04061
PRINTS
PIRSF PIRSF018147
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N138
PhosphoSite PhosphoSite-Q8N138
TrEMBL J3QRM9
UniProt Splice Variant
Entrez Gene 94103
UniGene Hs.514151
RefSeq XP_005257884
HUGO HGNC:16038
OMIM 610075
CCDS CCDS11355
HPRD 17803
IMGT
EMBL AC090844 AF373101 AF373102 AF395708 AK074811 AK075212 AK093063 AY357943 BC017087 BC071833 CH471152
GenPept AAH17087 AAH71833 AAM43507 AAN76521 AAN76522 AAQ57273 BAC11223 BAC11476 BAG52645 EAW60617 EAW60618 EAW60619 EAW60620

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca