INSL5 (Insulin Like 5)
A relaxin family peptide hormone involved in appetite regulation and metabolic signaling
Gene Information Card
| Symbol | INSL5 |
|---|---|
| Full Name | Insulin Like 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 10022 ncbi.nlm.nih.gov/gene/10022 |
| Ensembl ID | ENSG00000143110 |
| UniProt ID | Q9Y5Q6 |
| OMIM ID | 606413 |
| HGNC ID | 6092 |
| Aliases | RLN5, INSL5 |
Description
INSL5 (Insulin Like 5) is a member of the insulin/relaxin superfamily. It encodes a preproprotein that is proteolytically processed to generate a mature peptide hormone. INSL5 is primarily expressed in the colon and rectum and acts as an agonist for the RXFP4 receptor. It plays a role in appetite regulation, glucose homeostasis, and gut-brain signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | INSL5 may modulate appetite via RXFP4 signaling; altered expression linked to metabolic dysregulation | PMID: 25639753 |
| Type 2 Diabetes | INSL5 influences insulin secretion and glucose metabolism; polymorphisms associated with T2D risk | PMID: 24194582 |
| Colorectal Cancer | INSL5 expression is altered in colorectal tumors; potential role in tumor microenvironment | PMID: 29187736 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.3 | Medium |
| Rectum | 9.8 | Medium |
| Small Intestine | 4.5 | Low |
| Stomach | 2.1 | Low |
| Testis | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 5.2 | Colorectal adenocarcinoma cell line |
| HT-29 | 4.8 | Colorectal adenocarcinoma cell line |
| HCT 116 | 3.1 | Colorectal carcinoma cell line |
| HeLa | 0.5 | Cervical adenocarcinoma; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.217C>T (p.Arg73Trp) | Missense | <0.01% | Reduced receptor binding affinity |
| c.346G>A (p.Gly116Ser) | Missense | <0.01% | Altered protein stability |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg73Trp) impair RXFP4 binding and signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • hormone activity | • insulin-like growth factor receptor binding |
| • extracellular space | • regulation of appetite |
| • G protein-coupled receptor signaling pathway |
Pathways
• Relaxin signaling pathway
• GPCR downstream signaling
Protein Summary
INSL5 is a 135-amino-acid preproprotein that is cleaved to produce a mature A and B chain linked by disulfide bonds. The mature hormone binds specifically to the G protein-coupled receptor RXFP4, activating cAMP and MAPK pathways. It is involved in energy balance, gut motility, and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSL5 Knockout HEK293 Cell Line | EDJ-KQ6870 | Human | 10022 | Details Get a Quote |
| INSL5 Knockout HeLa Cell Line | EDJ-KQ55303 | Human | 10022 | Details Get a Quote |
| INSL5 Knockout A-549 Cell Line | EDJ-KQ63785 | Human | 10022 | Details Get a Quote |
| INSL5 Knockout HCT 116 Cell Line | EDJ-KQ72242 | Human | 10022 | Details Get a Quote |
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