MAS1

Chr 6

MAS1 proto-oncogene, G protein-coupled receptor

G protein-coupled receptor that plays key roles in the renin-angiotensin system (RAS) specifically in the protective, counter-regulatory arm of the RAS (PubMed:25967876). Receptor mainly stimulated by angiotensin 1-7, which is a bioactive metabolite of the angiotensin produced by ACE2 (PubMed:17984366). Activation promotes nitric oxide via PI3K/Akt-eNOS pathway (PubMed:17984366). Modulates also the MAPK, ERK1/2, and NF-kappa-B signaling (PubMed:25967876). Positive regulation of AGTR1 levels occurs through activation of the G proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade (PubMed:15809376, PubMed:16611642). The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1 (PubMed:15809376, PubMed:16611642). Acts as functional receptor for CXCL17 and induces chemotactic movement (PubMed:41167449)

ResearchGenerating clinical summary…
1
Active trials
38
Pubs (1 yr)
P/LP submissions
P/LP missense
1.47
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score 0.58
OE 0.79 (0.451.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.03Z-score
OE missense 1.01 (0.891.14)
190 obs / 188.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.79 (0.451.47)
00.351.4
Missense OE?1.01 (0.891.14)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 7 / 8.9Missense obs/exp: 190 / 188.9Syn Z: -0.80

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

MAS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.