ORMDL1
ORMDL Sphingolipid Biosynthesis Regulator 1
Gene Information Card
| Symbol | ORMDL1 |
|---|---|
| Full Name | ORMDL sphingolipid biosynthesis regulator 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 94101 ncbi.nlm.nih.gov/gene/94101 |
| Ensembl ID | ENSG00000130762 |
| UniProt ID | Q9P0S3 |
| OMIM ID | 610075 |
| HGNC ID | HGNC:16038 |
| Aliases | AdopH-1, ORMDL1_HUMAN |
Description
ORMDL1 encodes a member of the ORMDL family of endoplasmic reticulum membrane proteins that negatively regulate serine palmitoyltransferase (SPT), the first and rate-limiting enzyme in sphingolipid biosynthesis. The protein forms a complex with SPT subunits to modulate sphingolipid levels in response to cellular demands. ORMDL1 is ubiquitously expressed and plays a critical role in maintaining sphingolipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | ORMDL1 variants are associated with altered sphingolipid metabolism, potentially affecting airway inflammation and hyperresponsiveness. | GWAS and functional studies (NCBI, OMIM) |
| Inflammatory bowel disease | Dysregulation of sphingolipid biosynthesis via ORMDL1 may contribute to intestinal inflammation. | Association studies (NCBI, OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Small intestine | 10.8 | Medium |
| Liver | 9.2 | Medium |
| Brain | 7.1 | Low |
| Heart | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| A549 | 10.4 | Medium expression |
| HepG2 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.200C>T (p.Thr67Met) | Missense | <0.01% | Potential loss of function; reduced SPT inhibition |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair ORMDL1's ability to inhibit SPT, leading to elevated sphingolipid levels.
Gain of Function (GOF)
Not well characterized; no confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects in ORMDL1.
View complete mutation data：
Gene Ontology (GO)
| • sphingolipid biosynthetic process | • negative regulation of serine C-palmitoyltransferase activity |
| • endoplasmic reticulum membrane | • protein binding |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• De novo sphingolipid biosynthesis (KEGG: hsa00600)
Protein Summary
ORMDL1 is a 153-amino acid transmembrane protein localized to the endoplasmic reticulum. It forms a regulatory complex with the SPT enzyme to control sphingolipid production. The protein contains a conserved ORMDL domain and is involved in cellular stress responses and lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ORMDL1 Knockout HEK293 Cell Line | EDJ-KQ11286 | Human | 94101 | Details Get a Quote |
| ORMDL1 Knockout A-549 Cell Line | EDJ-KQ39398 | Human | 94101 | Details Get a Quote |
| ORMDL1 Knockout HCT 116 Cell Line | EDJ-KQ39399 | Human | 94101 | Details Get a Quote |
| ORMDL1 Knockout HeLa Cell Line | EDJ-KQ39400 | Human | 94101 | Details Get a Quote |
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