IGFBPL1
Insulin Like Growth Factor Binding Protein Like 1
Gene Information Card
| Symbol | IGFBPL1 |
|---|---|
| Full Name | Insulin Like Growth Factor Binding Protein Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 347252 ncbi.nlm.nih.gov/gene/347252 |
| Ensembl ID | ENSG00000188827 |
| UniProt ID | Q8WX77 |
| OMIM ID | 610413 |
| HGNC ID | 29263 |
| Aliases | IGFBP-10, IGFBP-rP10, bA157L14.2 |
Description
IGFBPL1 encodes a member of the insulin-like growth factor binding protein (IGFBP) family. This protein binds IGFs with low affinity and may modulate IGF signaling. It is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Downregulation of IGFBPL1 may promote tumor growth via IGF signaling | PMID: 23455423 |
| Breast cancer | Altered expression linked to poor prognosis | PMID: 25670000 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Liver | 1.1 | Low |
| Kidney | 0.8 | Not detected |
| Testis | 4.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HeLa | 0.5 | Not detected |
| MCF7 | 3.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T | missense | 0.01% | p.Thr67Ile; unknown significance |
| c.350G>A | missense | 0.005% | p.Arg117His; unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar.
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)
| • insulin-like growth factor binding | • growth factor activity |
| • extracellular region |
Pathways
• IGF signaling pathway
• Regulation of insulin-like growth factor transport and uptake
Protein Summary
IGFBPL1 is a secreted protein of 273 amino acids. It contains an IGFBP domain and a thyroglobulin type-1 domain. It binds IGF-I and IGF-II with low affinity and may modulate their bioavailability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGFBPL1 Knockout HEK293 Cell Line | EDJ-KQ13811 | Human | 347252 | Details Get a Quote |
| IGFBPL1 Knockout A-549 Cell Line | EDJ-KQ43628 | Human | 347252 | Details Get a Quote |
| IGFBPL1 Knockout HeLa Cell Line | EDJ-KQ43629 | Human | 347252 | Details Get a Quote |
| IGFBPL1 Knockout HCT 116 Cell Line | EDJ-KQ76652 | Human | 347252 | Details Get a Quote |
