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    MRAS muscle RAS oncogene homolog [ Homo sapiens (human) ]

    Gene ID: 22808, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRASprovided by HGNC
    Official Full Name
    muscle RAS oncogene homologprovided by HGNC
    Primary source
    HGNC:HGNC:7227
    See related
    Ensembl:ENSG00000158186 MIM:608435; AllianceGenome:HGNC:7227
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NS11; M-RAs; RRAS3; R-RAS3
    Summary
    This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Broad expression in fat (RPKM 37.4), heart (RPKM 23.2) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRAS in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138347648..138405535)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141088198..141146101)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138066490..138124377)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20602 Neighboring gene NME/NM23 family member 9 Neighboring gene uncharacterized LOC124909438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131466-138131966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131967-138132467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138158533-138159312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138159313-138160093 Neighboring gene extended synaptotagmin 3 Neighboring gene centrosomal protein 70

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Crystal structure of the GDP-bound human M-RAS protein in two crystal forms. Bester SM, et al. Acta Crystallogr F Struct Biol Commun, 2024 Sep 1. PMID 39196705,
    2. Genetic insight into the role of MRAS in coronary artery disease risk. Liu L, et al. Gene, 2015 Jun 10. PMID 25800439
    3. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. Pires LVL, et al. Am J Med Genet A, 2021 Oct. PMID 34080768
    4. Correlation between MRAS gene polymorphism and atherosclerosis. Wu ZY, et al. Eur Rev Med Pharmacol Sci, 2020 May. PMID 32495899
    5. The influence of MRAS gene variants on ischemic stroke and serum lipid levels in Chinese Han population. Song Y, et al. Medicine (Baltimore), 2019 Nov. PMID 31770223, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Crystal structure of the GDP-bound human M-RAS protein in two crystal forms.
      Title: Crystal structure of the GDP-bound human M-RAS protein in two crystal forms.
    2. Scribble mis-localization induces adaptive resistance to KRAS G12C inhibitors through feedback activation of MAPK signaling mediated by YAP-induced MRAS.
      Title: Scribble mis-localization induces adaptive resistance to KRAS G12C inhibitors through feedback activation of MAPK signaling mediated by YAP-induced MRAS.
    3. Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
      Title: Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
    4. Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.
      Title: Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.
    5. Structure of the MRAS-SHOC2-PP1C phosphatase complex.
      Title: Structure of the MRAS-SHOC2-PP1C phosphatase complex.
    6. Structural basis for SHOC2 modulation of RAS signalling.
      Title: Structural basis for SHOC2 modulation of RAS signalling.
    7. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
      Title: Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
    8. Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
      Title: Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
    9. Correlation between MRAS gene polymorphism and atherosclerosis.
      Title: Correlation between MRAS gene polymorphism and atherosclerosis.
    10. We confirmed that the MRAS gene represents a causative gene for RASopathy.
      Title: Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Noonan syndrome 11
    MedGen: C5193130 OMIM: 618499 GeneReviews: Noonan Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    New susceptibility locus for coronary artery disease on chromosome 3q22.3.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42964

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in actin cytoskeleton organization TAS
    Traceable Author Statement
    more info
    		  
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of protein phosphatase type 1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ras-related protein M-Ras
    Names
    muscle and microspikes RAS
    ras-related protein R-Ras3
    NP_001078518.1
    NP_001239019.1
    NP_001239020.1
    NP_001239021.1
    NP_001239022.1
    NP_036351.3
    XP_005247285.1
    XP_005247286.1
    XP_024309164.1
    XP_047303651.1
    XP_047303652.1
    XP_047303653.1
    XP_047303654.1
    XP_047303655.1
    XP_054201645.1
    XP_054201646.1
    XP_054201647.1
    XP_054201648.1
    XP_054201649.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001085049.3 → NP_001078518.1  ras-related protein M-Ras isoform 1 precursor

      See identical proteins and their annotated locations for NP_001078518.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AC022337, AF022080, AK123833, AK316071, BC017733, BC047690, CN356600
      Consensus CDS
      CCDS3100.1
      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0
      Related
      ENSP00000389682.2, ENST00000423968.7
      Conserved Domains (1) summary
      cd04145
      Location:12 → 176
      M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

    2. NM_001252090.2 → NP_001239019.1  ras-related protein M-Ras isoform 1 precursor

      See identical proteins and their annotated locations for NP_001239019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AC022497, AF493918, AK123833, AK316071, BC017733, BI488489
      Consensus CDS
      CCDS3100.1
      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0
      Related
      ENSP00000418356.1, ENST00000474559.1
      Conserved Domains (1) summary
      cd04145
      Location:12 → 176
      M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

    3. NM_001252091.1 → NP_001239020.1  ras-related protein M-Ras isoform 2 precursor

      See identical proteins and their annotated locations for NP_001239020.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 4, 5 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK123833, AK316071, BC017733, DA235195, DA355883
      Consensus CDS
      CCDS58855.1
      UniProtKB/TrEMBL
      C9J8Q6
      Related
      ENSP00000484586.1, ENST00000614350.4
      Conserved Domains (1) summary
      cl38936
      Location:1 → 100
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_001252092.2 → NP_001239021.1  ras-related protein M-Ras isoform 2 precursor

      See identical proteins and their annotated locations for NP_001239021.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 4, 5 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK123833, AK295640, BC017733
      Consensus CDS
      CCDS58855.1
      UniProtKB/TrEMBL
      C9J8Q6
      Related
      ENSP00000419582.1, ENST00000464896.5
      Conserved Domains (1) summary
      cl38936
      Location:1 → 100
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. NM_001252093.2 → NP_001239022.1  ras-related protein M-Ras isoform 2 precursor

      See identical proteins and their annotated locations for NP_001239022.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks an exon and uses a downstream, in-frame start codon, compared to variant 1. Variants 4, 5 and 6 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC022337, AI216578, AK123833, AK316071, BC017733, CN356600
      Consensus CDS
      CCDS58855.1
      UniProtKB/TrEMBL
      C9J8Q6
      Related
      ENSP00000481637.1, ENST00000621127.4
      Conserved Domains (1) summary
      cl38936
      Location:1 → 100
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. NM_012219.4 → NP_036351.3  ras-related protein M-Ras isoform 1 precursor

      See identical proteins and their annotated locations for NP_036351.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AK123833, AK124954, BC017733, DA235195
      Consensus CDS
      CCDS3100.1
      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0
      Related
      ENSP00000289104.4, ENST00000289104.8
      Conserved Domains (1) summary
      cd04145
      Location:12 → 176
      M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      138347648..138405535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447696.1 → XP_047303652.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    2. XM_047447697.1 → XP_047303653.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    3. XM_047447695.1 → XP_047303651.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    4. XM_047447698.1 → XP_047303654.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    5. XM_005247228.2 → XP_005247285.1  ras-related protein M-Ras isoform X1

      See identical proteins and their annotated locations for XP_005247285.1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0
      Conserved Domains (1) summary
      cd04145
      Location:12 → 176
      M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

    6. XM_047447699.1 → XP_047303655.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    7. XM_005247229.3 → XP_005247286.1  ras-related protein M-Ras isoform X2

      See identical proteins and their annotated locations for XP_005247286.1

      Conserved Domains (1) summary
      cl38936
      Location:12 → 150
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    8. XM_024453396.2 → XP_024309164.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0
      Conserved Domains (1) summary
      cd04145
      Location:12 → 176
      M_R_Ras_like; R-Ras2/TC21, M-Ras/R-Ras3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      141088198..141146101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345671.1 → XP_054201646.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    2. XM_054345670.1 → XP_054201645.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    3. XM_054345674.1 → XP_054201649.1  ras-related protein M-Ras isoform X2

    4. XM_054345672.1 → XP_054201647.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0

    5. XM_054345673.1 → XP_054201648.1  ras-related protein M-Ras isoform X1

      UniProtKB/Swiss-Prot
      B4DIK0, O14807, Q86WX8
      UniProtKB/TrEMBL
      D3DNE8, Q6FGP0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14807.2 GenPept UniProtKB/Swiss-Prot:O14807

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