ORMDL3 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of ORMDL3 at tissue level.

III. Associated gene sets

GO_0030148Biological processsphingolipid biosynthetic process
GO_0006940Biological processregulation of smooth muscle contraction
GO_0002903Biological processnegative regulation of B cell apoptotic process
GO_0006672Biological processceramide metabolic process
GO_0090156Biological processintracellular sphingolipid homeostasis
GO_0006686Biological processsphingomyelin biosynthetic process
GO_0010508Biological processpositive regulation of autophagy
GO_0042552Biological processmyelination
GO_1900060Biological processnegative regulation of ceramide biosynthetic process
GO_0061744Biological processmotor behavior
GO_1900182Biological processpositive regulation of protein localization to nucleus
GO_0017059Cellular componentserine palmitoyltransferase complex
GO_0030667Cellular componentsecretory granule membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0035579Cellular componentspecific granule membrane
GO_0005886Cellular componentplasma membrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameORMDL3
Protein nameHSPC209 (ORM1-like 3 (S. cerevisiae), isoform CRA_a)
ORM1-like protein 3
SynonymshCG_30021
DescriptionFUNCTION: Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels . When complexed to SPT, the binding of ceramides to its N-terminus stabilizes a conformation that block SPT substrate entry, hence preventing SPT catalytic activity. Through this mechanism, maintains ceramide levels at sufficient concentrations for the production of complex sphingolipids, but which prevents the accumulation of ceramides to levels that trigger apoptosis . .

AccessionsENST00000584220.5 [Q8N138-4]
Q8N138
ENST00000304046.7 [Q8N138-1]
Q9P0R7
J3KTF9
ENST00000584000.1
ENST00000581284.5
J3QRM9
ENST00000579695.5 [Q8N138-1]
ENST00000394169.5 [Q8N138-1]