MAS1L Gene - MAS1 Proto-Oncogene Like, G Protein-Coupled Receptor
Comprehensive genomic and functional analysis of MAS1L, an orphan G protein-coupled receptor with potential roles in cancer and neurobiology.
Gene Information Card
| Symbol | MAS1L |
|---|---|
| Full Name | MAS1 proto-oncogene like, G protein-coupled receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 116511 ncbi.nlm.nih.gov/gene/116511 |
| Ensembl ID | ENSG00000140961 |
| UniProt ID | P0C7U0 |
| OMIM ID | 607234 |
| HGNC ID | 13999 |
| Aliases | MAS-L, MGC138499, MGC138501 |
Description
MAS1L (MAS1 proto-oncogene like, G protein-coupled receptor) is a protein-coding gene located on chromosome 6p21.1. It encodes an orphan G protein-coupled receptor (GPCR) belonging to the MAS-related family. The receptor shares sequence homology with the MAS1 oncogene but its endogenous ligand and physiological functions remain largely unknown. MAS1L is implicated in potential roles in cell signaling, neurobiology, and cancer, though functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential oncogenic signaling via GPCR pathways; overexpression observed in some tumor types. | COSMIC; limited functional studies |
| Neuropsychiatric disorders | Expression in brain regions suggests possible role in neuronal signaling; no direct evidence. | NCBI Gene; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.5 | Low |
| Testis | 0.3 | Low |
| Kidney | 0.2 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.4 | Low expression; used in heterologous expression studies |
| SH-SY5Y | 0.3 | Neuroblastoma cell line; low expression |
| MCF7 | 0.2 | Breast cancer cell line; low 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 functional impact |
| c.350G>A | Missense | 0.005% | p.Arg117His; rare variant |
| c.500_501insA | Frameshift | <0.001% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.500_501insA) are predicted to cause loss of function due to premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MAS1L.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MAS1L.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • signal transduction |
| • plasma membrane | • integral component of membrane |
Pathways
• GPCR signaling pathway
• MAS-related GPCR signaling
Protein Summary
MAS1L encodes a 378-amino acid orphan G protein-coupled receptor with seven transmembrane domains. The protein is predicted to localize to the plasma membrane and may couple to G proteins to modulate intracellular signaling cascades. Its exact ligand and biological function remain unknown, but sequence similarity to MAS1 suggests potential roles in cell growth regulation and neurobiology. Expression is low in most tissues, and functional studies are sparse.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAS1L Knockout HEK293 Cell Line | EDJ-KQ7575 | Human | 116511 | Details Get a Quote |
| MAS1L Knockout HeLa Cell Line | EDJ-KQ57992 | Human | 116511 | Details Get a Quote |
| MAS1L Knockout A-549 Cell Line | EDJ-KQ66478 | Human | 116511 | Details Get a Quote |
| MAS1L Knockout HCT 116 Cell Line | EDJ-KQ74901 | Human | 116511 | Details Get a Quote |
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