ORMDL1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0030148Biological processsphingolipid biosynthetic process
GO_0006672Biological processceramide metabolic process
GO_0090156Biological processintracellular sphingolipid homeostasis
GO_0006686Biological processsphingomyelin biosynthetic process
GO_0042552Biological processmyelination
GO_1900060Biological processnegative regulation of ceramide biosynthetic process
GO_0061744Biological processmotor behavior
GO_0017059Cellular componentserine palmitoyltransferase complex
GO_0005783Cellular componentendoplasmic reticulum
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameORMDL1
Protein nameORM1-like protein 1 (Adoplin-1)
ORM1-like protein 1
SynonymsHSPC202
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 (By similarity). .

AccessionsENST00000458355.1
Q9P0S3
ENST00000325795.7
ENST00000442547.5
A0A1B0GXE7
F6WST4
ENST00000392349.9
ENST00000409519.5
ENST00000392350.7