InnateDB Protein
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IDBP-46693.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ORMDL3
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Protein Name
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ORM1-like 3 (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000304858
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InnateDB Gene
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IDBG-46691 (ORMDL3)
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Protein Structure
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Function |
Negative regulator of sphingolipid synthesis. May indirectly regulate endoplasmic reticulum-mediated Ca(+2) signaling. {ECO:0000269PubMed:20182505}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:12093374, ECO:0000269PubMed:19819884}; Multi- pass membrane protein {ECO:0000269PubMed:12093374, ECO:0000269PubMed:19819884}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007203
ORMDL
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PFAM |
PF04061
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PRINTS |
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PIRSF |
PIRSF018147
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8N138
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PhosphoSite |
PhosphoSite-Q8N138
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TrEMBL |
J3QRM9
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UniProt Splice Variant |
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Entrez Gene |
94103
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UniGene |
Hs.514151
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RefSeq |
NP_644809
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HUGO |
HGNC:16038
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OMIM |
610075
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CCDS |
CCDS11355
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HPRD |
17803
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IMGT |
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EMBL |
AC090844
AF373101
AF373102
AF395708
AK074811
AK075212
AK093063
AY357943
BC017087
BC071833
CH471152
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GenPept |
AAH17087
AAH71833
AAM43507
AAN76521
AAN76522
AAQ57273
BAC11223
BAC11476
BAG52645
EAW60617
EAW60618
EAW60619
EAW60620
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