ISYNA1
Inositol-3-Phosphate Synthase 1
Gene Information Card
| Symbol | ISYNA1 |
|---|---|
| Full Name | Inositol-3-Phosphate Synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 51477 ncbi.nlm.nih.gov/gene/51477 |
| Ensembl ID | ENSG00000105655 |
| UniProt ID | Q9NPH2 |
| OMIM ID | 600783 |
| HGNC ID | 29821 |
| Aliases | INO1, IPS, MIP synthase |
Description
ISYNA1 encodes inositol-3-phosphate synthase 1, the key enzyme catalyzing the conversion of glucose-6-phosphate to inositol-3-phosphate, the rate-limiting step in myo-inositol biosynthesis. Myo-inositol is a precursor for phosphatidylinositol and inositol phosphates, critical for cellular signaling, membrane structure, and osmoregulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered inositol metabolism may affect PI3K/AKT signaling; ISYNA1 expression changes observed in tumors. | NCBI Gene, COSMIC |
| Metabolic syndrome | Dysregulation of inositol biosynthesis linked to insulin resistance and lipid metabolism. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Brain | 6.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Likely benign; no disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • myo-inositol-1-phosphate synthase activity | • inositol biosynthetic process |
| • NAD binding | • zinc ion binding |
| • cytoplasm |
Pathways
• Inositol phosphate metabolism
• Phosphatidylinositol signaling system
Protein Summary
ISYNA1 is a 558-amino acid protein that functions as a homotetramer. It requires NAD+ and Zn2+ for catalytic activity. The enzyme is localized in the cytoplasm and is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ISYNA1 Knockout HEK293 Cell Line | EDJ-KQ3299 | Human | 51477 | Details Get a Quote |
| ISYNA1 Knockout HCT 116 Cell Line | EDJ-KQ23494 | Human | 51477 | Details Get a Quote |
| ISYNA1 Knockout A-549 Cell Line | EDJ-KQ24880 | Human | 51477 | Details Get a Quote |
| ISYNA1 Knockout HeLa Cell Line | EDJ-KQ24882 | Human | 51477 | Details Get a Quote |
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