ORMDL3
ORM1-like protein 3
Also known as: ORML3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N138
- Gene
- ORMDL3
- Ensembl
- ENSG00000172057
- Chromosome
- 17
- Canonical length
- 153 aa
- Protein class
- Disease related genes, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum
OverviewNCBI Gene
Involved in ceramide metabolic process. Acts upstream of or within several processes, including negative regulation of B cell apoptotic process; negative regulation of ceramide biosynthetic process; and positive regulation of protein localization to nucleus. Located in endoplasmic reticulum. Part of serine palmitoyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
153 residues, UniProt reviewed canonical sequence.
>Q8N138|ORMDL3
1 MNVGTAHSEV NPNTRVMNSR GIWLSYVLAI GLLHIVLLSI PFVSVPVVWT LTNLIHNMGM
61 YIFLHTVKGT PFETPDQGKA RLLTHWEQMD YGVQFTASRK FLTITPIVLY FLTSFYTKYD
121 QIHFVLNTVS LMSVLIPKLP QLHGVRIFGI NKYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ORMDL3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 3
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 226 nTPM
Expression across tissuesHPA
Tissue
- liver: 226 nTPM
- adipose tissue: 140 nTPM
- pancreas: 103 nTPM
- choroid plexus: 99 nTPM
- thymus: 74 nTPM
- breast: 70 nTPM
Single-cell type
- late spermatids: 537 nCPM
- early spermatids: 319 nCPM
- hepatocytes: 112 nCPM
- late primary spermatocytes: 55 nCPM
- paneth cells: 46 nCPM
- epididymal principal cells: 46 nCPM
Immune cell
- eosinophil: 61 nTPM
- naive CD8 T-cell: 54 nTPM
- naive CD4 T-cell: 44 nTPM
- memory CD8 T-cell: 43 nTPM
- gdT-cell: 40 nTPM
- memory CD4 T-cell: 39 nTPM
Brain region
- choroid plexus: 74 nTPM
- cerebral cortex: 46 nTPM
- thalamus: 45 nTPM
- hippocampal formation: 43 nTPM
- medulla oblongata: 43 nTPM
- hypothalamus: 41 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ORMDL3.
Disease | AllUniProt
Conditions ORMDL3 is implicated in, by any mechanism.
- Asthma (ASTHMA) MIM:600807
Disease | ImmuneIEDB
Conditions an epitope on ORMDL3 was assayed in.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0.78
- gnomAD missense Z
- 1.32
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ceramide metabolic process
- intracellular sphingolipid homeostasis
- motor behavior
- myelination
- negative regulation of B cell apoptotic process
- negative regulation of ceramide biosynthetic process
- positive regulation of autophagy
- positive regulation of protein localization to nucleus
- regulation of smooth muscle contraction
- sphingolipid biosynthetic process
- sphingomyelin biosynthetic process
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ORMDL3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ORMDL3 as an antibody target. Whether an autoantibody or antibody against ORMDL3 could matter depends on whether native ORMDL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ORMDL3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ORMDL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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