INSRR
Insulin Receptor Related Receptor
Gene Information Card
| Symbol | INSRR |
|---|---|
| Full Name | Insulin Receptor Related Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 3643 ncbi.nlm.nih.gov/gene/3643 |
| Ensembl ID | ENSG00000127616 |
| UniProt ID | P14616 |
| OMIM ID | 147671 |
| HGNC ID | 6093 |
| Aliases | IRR, INSRR1 |
Description
INSRR encodes the insulin receptor-related receptor (IRR), a receptor tyrosine kinase belonging to the insulin receptor family. IRR is primarily expressed in the kidney, stomach, and certain neural tissues. Unlike the insulin and IGF-1 receptors, IRR does not bind insulin or IGFs; instead, it is activated by alkaline pH, suggesting a role in pH sensing and metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Altered INSRR expression may contribute to tumorigenesis via dysregulated pH sensing | PMID: 25686104 |
| Renal Cell Carcinoma | Downregulation of INSRR observed in kidney tumors | PMID: 23431147 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Stomach | 8.3 | Medium |
| Brain | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.2 | Low expression |
| A549 | 1.8 | Low expression |
| MCF7 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.01% | Unknown functional effect |
| c.567C>T (p.Arg189*) | Nonsense | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg189*) lead to truncated protein and loss of kinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • transmembrane receptor protein tyrosine kinase activity (GO:0004714) | • ATP binding (GO:0005524) |
| • transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) | • integral component of membrane (GO:0016021) |
Pathways
• Insulin receptor signaling pathway (Reactome: R-HSA-74751)
• Signaling by receptor tyrosine kinases (Reactome: R-HSA-9006934)
Protein Summary
The insulin receptor-related receptor (IRR) is a 1297-amino acid transmembrane glycoprotein with an extracellular ligand-binding domain and an intracellular tyrosine kinase domain. It forms heterodimers with insulin receptor or IGF-1 receptor. IRR is activated by alkaline extracellular pH, not by insulin or IGFs, and is implicated in pH homeostasis and metabolic signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSRR Knockout HEK293 Cell Line | EDJ-KQ5003 | Human | 3645 | Details Get a Quote |
| INSRR Knockout HeLa Cell Line | EDJ-KQ53669 | Human | 3645 | Details Get a Quote |
| INSRR Knockout A-549 Cell Line | EDJ-KQ62143 | Human | 3645 | Details Get a Quote |
| INSRR Knockout HCT 116 Cell Line | EDJ-KQ70634 | Human | 3645 | Details Get a Quote |
