IGFLR1 Gene - IGF Like Family Receptor 1
Comprehensive genomic and functional analysis of IGFLR1
Gene Information Card
| Symbol | IGFLR1 |
|---|---|
| Full Name | IGF Like Family Receptor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 79713 ncbi.nlm.nih.gov/gene/79713 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q6H3X3 |
| OMIM ID | 617379 |
| HGNC ID | 28795 |
| Aliases | TMEM149, UNQ5816/PRO19615 |
Description
IGFLR1 (IGF Like Family Receptor 1) is a protein-coding gene located on chromosome 19q13.32. It encodes a transmembrane receptor that belongs to the IGF-like family. The receptor is involved in cell signaling and may play roles in growth regulation and immune modulation. Expression is observed in various tissues, with notable levels in the placenta and skin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in tumor growth via IGFL1-IGFLR1 signaling; overexpression may promote proliferation | Limited evidence from expression studies (COSMIC, literature) |
| Psoriasis | IGFLR1 expression upregulated in psoriatic skin; may contribute to keratinocyte hyperproliferation | Association from gene expression profiling (NCBI, literature) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Lung | 4.1 | Low |
| Kidney | 3.7 | Low |
| Breast | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.2 | Embryonic kidney cell line |
| HaCaT | 7.8 | Keratinocyte cell line |
| MCF7 | 3.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional impact |
| c.415G>A (p.Val139Met) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity | • signal transduction |
| • plasma membrane | • transmembrane signaling receptor activity |
Pathways
• IGFL1-IGFLR1 signaling pathway
Protein Summary
IGFLR1 is a single-pass transmembrane receptor protein of 311 amino acids. It contains an extracellular domain that binds IGFL1, leading to intracellular signaling. The protein is involved in cell proliferation and differentiation, with highest expression in placenta and skin. Its precise physiological functions are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGFLR1 Knockout HEK293 Cell Line | EDC90018 | Human | 79713 | Details Get a Quote |
| IGFLR1 Knockout A-549 Cell Line | EDJ-KQ43633 | Human | 79713 | Details Get a Quote |
| IGFLR1 Knockout HCT 116 Cell Line | EDJ-KQ43634 | Human | 79713 | Details Get a Quote |
| IGFLR1 Knockout HeLa Cell Line | EDJ-KQ43635 | Human | 79713 | Details Get a Quote |
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