This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects ... See more...

Aliases for MAS1 Gene

Aliases for MAS1 Gene

  • MAS1 Proto-Oncogene, G Protein-Coupled Receptor 2 3 5
  • Proto-Oncogene Mas 3 4
  • MAS1 Oncogene 2 3
  • MAS 3 4
  • Mas-Related G Protein-Coupled Receptor A 3
  • MGRA 3

External Ids for MAS1 Gene

Previous GeneCards Identifiers for MAS1 Gene

  • GC06P159767
  • GC06P160201
  • GC06P160237
  • GC06P160298
  • GC06P160327
  • GC06P157798

Summaries for MAS1 Gene

Entrez Gene Summary for MAS1 Gene

  • This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]

GeneCards Summary for MAS1 Gene

MAS1 (MAS1 Proto-Oncogene, G Protein-Coupled Receptor) is a Protein Coding gene. Diseases associated with MAS1 include Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency. Among its related pathways are Peptide ligand-binding receptors and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and peptide hormone binding. An important paralog of this gene is MRGPRX2.

UniProtKB/Swiss-Prot Summary for MAS1 Gene

  • Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1.

Gene Wiki entry for MAS1 Gene

Additional gene information for MAS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAS1 Gene

Genomics for MAS1 Gene

GeneHancer (GH) Regulatory Elements for MAS1 Gene

Promoters and enhancers for MAS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J159966 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +62.4 62379 5.9 ZBTB40 SIN3A NRF1 POLR2G USF1 SP1 GTF2E2 PHF8 ZFX ZIC2 IGF2R lnc-TCP1-6 WTAP LOC729603 MAS1 ENSG00000236823 SLC22A1
GH06J159988 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 13.9 +83.0 82993 2.3 AFF1 REST ZNF740 MYC CTBP1 HINFP RBM25 RELA NCOR1 NFRKB IGF2R MAS1 WTAP ENSG00000236823 SOD2 SLC22A1 GQ166646
GH06J159975 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 12.3 +74.2 74225 9.9 SIN3A USF1 SP1 FOS EP300 ZIC2 ZNF423 TRIM28 RELA MEF2C IGF2R WTAP MAS1 SOD2 ENSG00000236823 SLC22A1 GQ166646
GH06J159996 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.6 +92.1 92111 5.2 PHB2 ZBTB5 ZIC2 TCF7 AFF1 NR3C1 TOE1 MYC TGIF2 CTBP1 IGF2R MAS1 ENSG00000236823 SLC22A1 GQ166646
GH06J159929 Enhancer 1 Ensembl ENCODE 12.3 +23.9 23911 3.2 SP1 EP300 JUND RELA MYC RCOR1 TRIM22 BCL11A TCF12 NFIC MAS1 ENSG00000236823 RF00017-5920 RF00017-5921
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAS1

Top Transcription factor binding sites by QIAGEN in the MAS1 gene promoter:
  • C/EBPalpha
  • Cart-1
  • FAC1
  • p53
  • POU2F1
  • POU2F1a

Genomic Locations for MAS1 Gene

Genomic Locations for MAS1 Gene
chr6:159,906,690-159,916,530
(GRCh38/hg38)
Size:
9,841 bases
Orientation:
Plus strand
chr6:160,327,974-160,329,108
(GRCh37/hg19)
Size:
1,135 bases
Orientation:
Plus strand

Genomic View for MAS1 Gene

Genes around MAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAS1 Gene

Proteins for MAS1 Gene

  • Protein details for MAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04201-MAS_HUMAN
    Recommended name:
    Proto-oncogene Mas
    Protein Accession:
    P04201
    Secondary Accessions:
    • E1P5B3
    • Q2TBC9
    • Q6FG47

    Protein attributes for MAS1 Gene

    Size:
    325 amino acids
    Molecular mass:
    37465 Da
    Quaternary structure:
    • Interacts with AGTR1. Interacts with FLNA (via filamin repeat 21); increases PKA-mediated phosphorylation of FLNA (PubMed:26460884).

neXtProt entry for MAS1 Gene

Post-translational modifications for MAS1 Gene

  • Glycosylation at Asn5, Asn16, and Asn22
  • Modification sites at PhosphoSitePlus

Other Protein References for MAS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAS1 Gene

Domains & Families for MAS1 Gene

Gene Families for MAS1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MAS1 Gene

Blocks:
  • Mas oncogene signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAS1 Gene

GenScript: Design optimal peptide antigens:
  • Proto-oncogene Mas (MAS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04201

UniProtKB/Swiss-Prot:

MAS_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with MAS1: view

Function for MAS1 Gene

Molecular function for MAS1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of the G-proteins GNA11 and GNAQ, and stimulation of the protein kinase C signaling cascade. The antagonist effect on AGTR1 function is probably due to AGTR1 being physically altered by MAS1.
GENATLAS Biochemistry:
MAS1 oncogene (angiotensin receptor), G protein coupled receptor superfamily,imprinted in breast tissue

Phenotypes From GWAS Catalog for MAS1 Gene

Gene Ontology (GO) - Molecular Function for MAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001595 angiotensin receptor activity ISS --
GO:0004930 G protein-coupled receptor activity TAS,IDA 16611642
GO:0004945 angiotensin type II receptor activity TAS 3419518
GO:0005515 protein binding IPI 26460884
GO:0042277 peptide binding IEA,ISS --
genes like me logo Genes that share ontologies with MAS1: view
genes like me logo Genes that share phenotypes with MAS1: view

Animal Models for MAS1 Gene

MGI Knock Outs for MAS1:
  • Mas1 Mas1<tm1Bdr>
  • Mas1 Mas1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for MAS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MAS1 Gene

Localization for MAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAS1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAS1 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 16611642
GO:0005887 integral component of plasma membrane TAS 3419518
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MAS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAS1 Gene

Pathways & Interactions for MAS1 Gene

genes like me logo Genes that share pathways with MAS1: view

Gene Ontology (GO) - Biological Process for MAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS,IBA 21873635
GO:0007250 activation of NF-kappaB-inducing kinase activity IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with MAS1: view

No data available for SIGNOR curated interactions for MAS1 Gene

Drugs & Compounds for MAS1 Gene

(5) Drugs for MAS1 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AR234960 Pharma 0
AR244555 Pharma 0
AR305352 Pharma 0
CGEN-856 Pharma 0
CGEN-857 Pharma 0

(1) Additional Compounds for MAS1 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
angiotensin-(1-7)
Full agonist, Agonist
genes like me logo Genes that share compounds with MAS1: view

Transcripts for MAS1 Gene

mRNA/cDNA for MAS1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MAS1

Alternative Splicing Database (ASD) splice patterns (SP) for MAS1 Gene

No ASD Table

Relevant External Links for MAS1 Gene

GeneLoc Exon Structure for
MAS1

Expression for MAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAS1 Gene

mRNA differential expression in normal tissues according to GTEx for MAS1 Gene

This gene is overexpressed in Brain - Hippocampus (x9.1), Brain - Frontal Cortex (BA9) (x8.7), Brain - Anterior cingulate cortex (BA24) (x7.8), Brain - Cortex (x5.4), and Cervix - Ectocervix (x5.3).

Protein differential expression in normal tissues from HIPED for MAS1 Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAS1 Gene



Protein tissue co-expression partners for MAS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAS1

SOURCE GeneReport for Unigene cluster for MAS1 Gene:

Hs.99900
genes like me logo Genes that share expression patterns with MAS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAS1 Gene

Orthologs for MAS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAS1 31 30
  • 99.49 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAS1 31
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAS1 30
  • 86.87 (n)
mouse
(Mus musculus)
Mammalia Mas1 17 31 30
  • 85.39 (n)
cow
(Bos Taurus)
Mammalia MAS1 31 30
  • 84.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mas1 30
  • 84.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAS1 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAS1 31 30
  • 65.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 35 (a)
OneToMany
-- 31
  • 29 (a)
OneToMany
-- 31
  • 25 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494761 30
  • 52.53 (n)
Species where no ortholog for MAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MAS1 Gene

ENSEMBL:
Gene Tree for MAS1 (if available)
TreeFam:
Gene Tree for MAS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAS1: view image

Paralogs for MAS1 Gene

(8) SIMAP similar genes for MAS1 Gene using alignment to 1 proteins:

  • MAS_HUMAN
genes like me logo Genes that share paralogs with MAS1: view

Variants for MAS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAS1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
719390 Likely Benign: not provided 159,907,710(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAS1 Gene

Variation tolerance for MAS1 Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MAS1 Gene

Disorders for MAS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
  • sepiapterin reductase deficiency; srd
- elite association - COSMIC cancer census association via MalaCards
Search MAS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAS_HUMAN
  • Note=The MAS oncogene has a weak focus-inducing activity in transfected NIH 3T3 cells. {ECO:0000269 PubMed:3708691}.

Additional Disease Information for MAS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAS1: view

No data available for Genatlas for MAS1 Gene

Publications for MAS1 Gene

  1. Up-regulation of the angiotensin II type 1 receptor by the MAS proto-oncogene is due to constitutive activation of Gq/G11 by MAS. (PMID: 16611642) Canals M … Milligan G (The Journal of biological chemistry 2006) 3 4 23 54
  2. G protein-coupled receptors directly bind filamin A with high affinity and promote filamin phosphorylation. (PMID: 26460884) Tirupula KC … Karnik SS (Biochemistry 2015) 3 4 54
  3. Interactions among related genes of renin-angiotensin system associated with type 2 diabetes. (PMID: 20592051) Yang JK … Ma YH (Diabetes care 2010) 3 41 54
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for MAS1 Gene

Sources for MAS1 Gene