NOMO1: NODAL Modulator 1
A key regulator of Nodal signaling in left-right axis determination and cardiac development
Gene Information Card
| Symbol | NOMO1 |
|---|---|
| Full Name | NODAL Modulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 120 ncbi.nlm.nih.gov/gene/120 |
| Ensembl ID | ENSG00000103512 |
| UniProt ID | Q15155 |
| OMIM ID | 300019 |
| HGNC ID | 7868 |
| Aliases | NOMO, PM5, pM5, NODAL modulator 1 |
Description
NOMO1 encodes a transmembrane protein that modulates Nodal signaling, a critical pathway for embryonic left-right axis determination and cardiac development. The protein is localized to the cell membrane and interacts with Nodal receptors to fine-tune signaling strength. Mutations in NOMO1 are associated with heterotaxy and congenital heart defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heterotaxy, visceral, 1, X-linked | Disruption of Nodal signaling leads to abnormal left-right patterning | OMIM #300019 |
| Congenital heart disease, multiple types | Altered Nodal modulation affects cardiac morphogenesis | ClinVar, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
| Lung | 5.1 | Low |
| Brain | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| HEK293 | 10.8 | Low expression |
| K562 | 4.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Altered protein stability |
| c.250G>A (p.Gly84Arg) | Missense | <0.01% | Impaired Nodal binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the extracellular domain reduce Nodal binding and signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Nodal signaling pathway (GO:0038095) | • cell surface receptor signaling pathway (GO:0007166) |
| • transmembrane signaling receptor activity (GO:0004888) | • left/right axis specification (GO:0007368) |
Pathways
• Nodal signaling pathway (Reactome: R-HSA-1181150)
• Left-right axis determination (KEGG: hsa04350)
Protein Summary
NOMO1 is a 557-amino acid transmembrane protein with a large extracellular domain containing a signal peptide and a single transmembrane helix. It functions as a modulator of Nodal signaling by interacting with Nodal receptors (e.g., ACVR2B, TGFBR1) to regulate signal transduction. The protein is essential for proper left-right axis formation and cardiac development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOMO1 Knockout HEK293 Cell Line | EDJ-KQ51103 | Human | 23420 | Details Get a Quote |
| NOMO1 Knockout HeLa Cell Line | EDJ-KQ55732 | Human | 23420 | Details Get a Quote |
| NOMO1 Knockout A-549 Cell Line | EDJ-KQ64231 | Human | 23420 | Details Get a Quote |
| NOMO1 Knockout HCT 116 Cell Line | EDJ-KQ72676 | Human | 23420 | Details Get a Quote |
