MAS1L

Summary

MAS1L (MAS1 proto-oncogene like, G protein-coupled receptor, HGNC:13961) is a protein-coding gene on chromosome 6p22.1, encoding Mas-related G-protein coupled receptor MRG (P35410).

Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane.

Source: NCBI Gene 116511 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 59 total
• Druggable target: yes
• MANE Select transcript: NM_052967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13961
Approved symbol	MAS1L
Name	MAS1 proto-oncogene like, G protein-coupled receptor
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	MAS-L, MRG, dJ994E9.2
Ensembl gene	ENSG00000204687
Ensembl biotype	protein_coding
OMIM	607235
Entrez	116511

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000377127

RefSeq mRNA: 1 — MANE Select: NM_052967 NM_052967

CCDS: CCDS4661

Canonical transcript exons

ENST00000377127 — 1 exons

Exon	Start	End
ENSE00001758596	29486697	29487956

Expression profiles

Bgee: expression breadth broad, 58 present calls, max score 57.06.

Top tissues by expression

121 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
smooth muscle tissue	UBERON:0001135	57.06	gold quality
gall bladder	UBERON:0002110	56.64	gold quality
rectum	UBERON:0001052	52.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	51.48	gold quality
lower esophagus	UBERON:0013473	51.38	gold quality
mucosa of transverse colon	UBERON:0004991	51.26	gold quality
lower esophagus mucosa	UBERON:0035834	51.18	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	50.60	gold quality
subcutaneous adipose tissue	UBERON:0002190	49.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.34	silver quality
duodenum	UBERON:0002114	48.07	gold quality
right coronary artery	UBERON:0001625	47.45	gold quality
skin of abdomen	UBERON:0001416	46.43	gold quality
zone of skin	UBERON:0000014	46.06	gold quality
muscle tissue	UBERON:0002385	45.96	gold quality
colonic epithelium	UBERON:0000397	45.87	gold quality
skin of leg	UBERON:0001511	45.82	gold quality
esophagus	UBERON:0001043	45.59	gold quality
adipose tissue	UBERON:0001013	45.38	gold quality
minor salivary gland	UBERON:0001830	43.19	gold quality
saliva-secreting gland	UBERON:0001044	42.97	gold quality
urinary bladder	UBERON:0001255	42.71	gold quality
ectocervix	UBERON:0012249	42.67	gold quality
mucosa of stomach	UBERON:0001199	41.95	silver quality
uterine cervix	UBERON:0000002	41.34	gold quality
small intestine	UBERON:0002108	40.80	gold quality
fundus of stomach	UBERON:0001160	40.61	gold quality
omental fat pad	UBERON:0010414	40.45	gold quality
esophagus mucosa	UBERON:0002469	40.23	gold quality
tibial nerve	UBERON:0001323	39.77	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Mas, MrgD, and MRG mediated Ang IV-stimulated AA release that was highest for Mas. While Ang III activated Mas and MrgX2, Ang II stimulated AA release via Mas and MRG. (PMID:18636314)

Cross-species orthologs

0 orthologs

Paralogs (10): MAS1 (ENSG00000130368), MRGPRX1 (ENSG00000170255), MRGPRF (ENSG00000172935), MRGPRD (ENSG00000172938), GPR152 (ENSG00000175514), MRGPRX4 (ENSG00000179817), MRGPRX3 (ENSG00000179826), MRGPRG (ENSG00000182170), MRGPRX2 (ENSG00000183695), MRGPRE (ENSG00000184350)

Protein

Protein identifiers

Mas-related G-protein coupled receptor MRG — P35410 (reviewed: P35410)

Alternative names: MAS1-like

All UniProt accessions (2): P35410, W8W3J1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family. Mas subfamily.

RefSeq proteins (1): NP_443199* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR026234	MRGPCRFAMILY	Family

UniProt features (21 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35410-F1	66.76	0.12

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 54, 57

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (showing top): WTGAAAT_UNKNOWN, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, MAFG_TARGET_GENES, WP_GPCRS_CLASS_A_RHODOPSINLIKE, WP_MALE_INFERTILITY, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, GSE1791_CTRL_VS_NEUROMEDINU_IN_T_CELL_LINE_12H_DN, MODULE_337, chr6p22, GSE21670_IL6_VS_TGFB_AND_IL6_TREATED_CD4_TCELL_UP, CEBP_C

GO Biological Process (2): G protein-coupled receptor signaling pathway (GO:0007186), signal transduction (GO:0007165)

GO Molecular Function (1): G protein-coupled receptor activity (GO:0004930)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
G protein-coupled receptor activity	1
signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAS1L	NPFF	O15130	822
MAS1L	ACE	P12821	811
MAS1L	AGTR1	P30556	790
MAS1L	ACE2	Q9BYF1	790
MAS1L	AGT	P01019	761
MAS1L	REN	P00797	720
MAS1L	TMPRSS2	O15393	479
MAS1L	AGTR2	P50052	447
MAS1L	KNG1	P01042	418
MAS1L	BDKRB1	P46663	393
MAS1L	ADAM17	P78536	376
MAS1L	SLC3A1	Q07837	372
MAS1L	OR10C1	Q96KK4	371
MAS1L	ARGFX	A6NJG6	363
MAS1L	RHOF	Q9HBH0	353

IntAct

1 interactions, top by confidence:

A	B	Type	Score
MAS1L	rl36a_rl36l_human	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): RPL36AL (Affinity Capture-MS)

ESM2 similar proteins: P04201, P12526, P23749, P30554, P35410, P59534, P59535, Q3KNA1, Q3UG50, Q3UG61, Q4VHE7, Q645S5, Q645U4, Q645Y7, Q645Y8, Q645Y9, Q646A9, Q646B0, Q646C8, Q646D3, Q646F0, Q646F1, Q67ER9, Q67ES7, Q67ET0, Q67ET2, Q7TN38, Q7TN41, Q7TN44, Q7TN51, Q7TQA5, Q7TQA6, Q7TQB8, Q8CIP3, Q8R4G1, Q8TDS7, Q8VCJ6, Q91WW2, Q91WW3, Q91ZB8

Diamond homologs: B9VR26, O55197, O88680, P04201, P12526, P23749, P30554, P35410, Q16581, Q2LL16, Q3KNA1, Q3UG50, Q3UG61, Q4QXU0, Q4QXU2, Q4QXU3, Q4QXU4, Q4QXU5, Q4QXU6, Q4QXX9, Q5REI5, Q5U9D9, Q6L786, Q6TAC8, Q6XKD3, Q7TN38, Q7TN39, Q7TN40, Q7TN41, Q7TN44, Q7TN45, Q7TN49, Q7TN50, Q7TN51, Q86SM5, Q8CIP3, Q8NGA4, Q8R4G1, Q8TDS7, Q8VCJ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

59 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

293 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29486952:C:CT	acceptor_gain	0.8900
6:29487805:C:CC	acceptor_gain	0.8400
6:29486952:C:T	acceptor_gain	0.8300
6:29487803:CA:C	acceptor_gain	0.8200
6:29487802:CCA:C	acceptor_gain	0.8000
6:29487803:CAC:C	acceptor_gain	0.8000
6:29487931:CA:C	donor_gain	0.7800
6:29487932:A:AC	donor_gain	0.7800
6:29487800:CACCA:C	acceptor_gain	0.7000
6:29487928:CAACA:C	donor_gain	0.7000
6:29487713:T:C	donor_gain	0.6900
6:29486954:C:CT	acceptor_gain	0.6600
6:29486955:A:T	acceptor_gain	0.6400
6:29486983:C:CC	acceptor_gain	0.6400
6:29487801:ACCAC:A	acceptor_loss	0.6100
6:29487803:CACTG:C	acceptor_loss	0.6100
6:29487804:ACTG:A	acceptor_loss	0.6100
6:29487805:CTGT:C	acceptor_loss	0.6100
6:29487806:T:G	acceptor_loss	0.6100
6:29487807:G:C	acceptor_loss	0.6100
6:29486987:T:TC	acceptor_gain	0.6000
6:29487430:T:TG	acceptor_gain	0.5900
6:29486978:CGCTG:C	acceptor_gain	0.5800
6:29486980:CTG:C	acceptor_gain	0.5800
6:29486948:TCCCC:T	acceptor_gain	0.5700
6:29487913:G:T	donor_gain	0.5700
6:29487808:TGGAG:T	acceptor_loss	0.5600
6:29487809:GGAGA:G	acceptor_loss	0.5600
6:29487814:C:CT	acceptor_loss	0.5600
6:29486992:A:AC	acceptor_gain	0.5500

AlphaMissense

2475 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29486979:G:C	S308R	0.951
6:29486979:G:T	S308R	0.951
6:29486981:T:G	S308R	0.951
6:29487399:G:C	S168R	0.942
6:29487399:G:T	S168R	0.942
6:29487401:T:G	S168R	0.942
6:29487084:G:C	F273L	0.938
6:29487084:G:T	F273L	0.938
6:29487086:A:G	F273L	0.938
6:29487174:A:C	S243R	0.931
6:29487174:A:T	S243R	0.931
6:29487176:T:G	S243R	0.931
6:29487533:A:G	C124R	0.915
6:29487296:A:G	C203R	0.911
6:29487372:G:C	F177L	0.911
6:29487372:G:T	F177L	0.911
6:29487374:A:G	F177L	0.911
6:29487438:G:C	F155L	0.907
6:29487438:G:T	F155L	0.907
6:29487440:A:G	F155L	0.907
6:29487185:A:G	C240R	0.905
6:29487311:A:G	W198R	0.902
6:29487311:A:T	W198R	0.902
6:29487321:G:C	C194W	0.901
6:29487622:C:T	G94D	0.901
6:29487623:C:G	G94R	0.886
6:29487432:A:C	F157L	0.885
6:29487432:A:T	F157L	0.885
6:29487434:A:G	F157L	0.885
6:29486977:G:T	A309D	0.884

dbSNP variants (sampled 300 via entrez): RS1000009425 (6:29488355 TCACTG>T), RS1001537013 (6:29489527 G>A,C), RS1001651577 (6:29489379 A>G), RS1002408193 (6:29486623 A>C), RS1004890390 (6:29489047 A>G), RS1005266319 (6:29489357 G>T), RS1008687129 (6:29488745 C>G), RS1009173038 (6:29489185 T>C), RS1009759126 (6:29488669 G>A,C), RS1012135798 (6:29489601 T>C), RS1012249887 (6:29486330 A>T), RS1012279024 (6:29488291 T>C), RS1012630423 (6:29486614 G>A), RS1012766229 (6:29488004 G>A,T), RS1017556350 (6:29488457 G>A)

Disease associations

OMIM: gene MIM:607235 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST002884_1	Cutaneous lupus erythematosus	8.000000e-10
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_62	Autism spectrum disorder or schizophrenia	1.000000e-10
GCST005541_8	Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome)	1.000000e-20
GCST008745_56	Estimated glomerular filtration rate in non-diabetics	9.000000e-09
GCST010002_46	Refractive error	2.000000e-20
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523857 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: gpcr — Class A Orphans with emerging pharmacology

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Folic Acid	decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4883522	Binding	PRESTO-Tango GPCRome screening (MAS1L)	Data for DCP probe UCSF924

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.