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    MX1 MX dynamin-like GTPase 1 [ Homo sapiens (human) ]

    Gene ID: 4599, updated on 5-Jul-2015
    Official Symbol
    MX1provided by HGNC
    Official Full Name
    MX dynamin-like GTPase 1provided by HGNC
    Primary source
    HGNC:HGNC:7532
    See related
    Ensembl:ENSG00000157601; HPRD:00919; MIM:147150; Vega:OTTHUMG00000086755
    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
    MX; MxA; IFI78; IFI-78K
    Summary
    This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Orthologs
    Location:
    21q22.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (41420329..41459214)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (42792520..42831141)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 3, member B Neighboring gene uncharacterized LOC105372807 Neighboring gene MX dynamin-like GTPase 2 Neighboring gene transmembrane protease, serine 2 Neighboring gene uncharacterized LOC105372809 Neighboring gene uncharacterized LOC105372808

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 and the viral protein Tat modulate the expression of MX dynamin-like GTPase 1 (MX1; MxA; IFI78) in immature dendritic cells and monocyte-derived macrophages PubMed
    tat Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including MX1, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection PubMed
    Vpr vpr HIV-1 Vpr upregulates the gene expression of MX1 in human monocyte-derived macrophages PubMed
    vpr HIV-1 Vpr downregulates MX1 expression in human glial cells PubMed
    Vpu vpu The expression of MX1 is enhanced in Vpu-deficient HIV-1-infected cells as compared to that in wild-type-infected cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Antiviral mechanism by IFN-stimulated genes, organism-specific biosystem (from REACTOME)
      Antiviral mechanism by IFN-stimulated genes, organism-specific biosystemThe ISG proteins generated by IFN pathways plays key roles in the induction of innate and adaptive immune responses.
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • ISG15 antiviral mechanism, organism-specific biosystem (from REACTOME)
      ISG15 antiviral mechanism, organism-specific biosystemInterferon-stimulated gene 15 (ISG15) is a member of the ubiquitin-like (Ubl) family. It is strongly induced upon exposure to type I Interferons (IFNs), viruses, bacterial LPS, and other stresses. On...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
      Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
    • Measles, organism-specific biosystem (from KEGG)
      Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Measles, conserved biosystem (from KEGG)
      Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of viral genome replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to type I interferon TAS
    Traceable Author Statement
    more info
    PubMed 
    response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    interferon-induced GTP-binding protein Mx1
    Names
    interferon-induced protein p78
    interferon-inducible protein p78
    interferon-regulated resistance GTP-binding protein MxA
    myxoma resistance protein 1
    myxovirus (influenza virus) resistance 1, interferon-inducible protein p78

    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.

    Genomic

    1. NG_027788.1 RefSeqGene

      Range
      4966..43622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144925.2NP_001138397.1  interferon-induced GTP-binding protein Mx1 isoform a

      See identical proteins and their annotated locations for NP_001138397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as T0) represents the longest transcript and encodes isoform a. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AK096355, BC032602, DA726666, EB388095, M33882
      Consensus CDS
      CCDS13673.1
      UniProtKB/Swiss-Prot
      P20591
      Related
      ENSP00000381601, OTTHUMP00000109248, ENST00000398600, OTTHUMT00000195161
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    2. NM_001178046.2NP_001171517.1  interferon-induced GTP-binding protein Mx1 isoform a

      See identical proteins and their annotated locations for NP_001171517.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks five exons and contains an alternate terminal exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      AK315465, BC032602, CB151486, DA351922, EB388095, M33882
      Consensus CDS
      CCDS13673.1
      UniProtKB/Swiss-Prot
      P20591
      Related
      ENSP00000410523, ENST00000455164
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    3. NM_001282920.1NP_001269849.1  interferon-induced GTP-binding protein Mx1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks three exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b, also known as varMxA) is shorter and has a distinct C-terminus, compared to isoform a. This variant is supported by data in PMID: 20603636.
      Source sequence(s)
      BC032602, EB388095, M33882
      Consensus CDS
      CCDS74796.1
      UniProtKB/Swiss-Prot
      P20591
      Related
      ENSP00000478441, ENST00000619682
      Conserved Domains (3) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260423
      Dynamin_M; Dynamin central region
    4. NM_002462.4NP_002453.2  interferon-induced GTP-binding protein Mx1 isoform a

      See identical proteins and their annotated locations for NP_002453.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as T1) lacks three exons and contains an alternate terminal exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
      Source sequence(s)
      BC032602, CB151486, DA351922, EB388095, M33882
      Consensus CDS
      CCDS13673.1
      UniProtKB/Swiss-Prot
      P20591
      Related
      ENSP00000381599, OTTHUMP00000109249, ENST00000398598, OTTHUMT00000195162
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

      Range
      41420329..41459214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529568.1XP_011527870.1  

      See identical proteins and their annotated locations for XP_011527870.1

      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    2. XM_005260979.1XP_005261036.1  

      See identical proteins and their annotated locations for XP_005261036.1

      UniProtKB/Swiss-Prot
      P20591
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    3. XM_005260980.1XP_005261037.1  

      See identical proteins and their annotated locations for XP_005261037.1

      UniProtKB/Swiss-Prot
      P20591
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    4. XM_005260981.1XP_005261038.1  

      See identical proteins and their annotated locations for XP_005261038.1

      UniProtKB/Swiss-Prot
      P20591
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    5. XM_005260982.1XP_005261039.1  

      See identical proteins and their annotated locations for XP_005261039.1

      UniProtKB/Swiss-Prot
      P20591
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    6. XM_005260978.3XP_005261035.1  

      See identical proteins and their annotated locations for XP_005261035.1

      UniProtKB/Swiss-Prot
      P20591
      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      COG0699; Predicted GTPases (dynamin-related) [General function prediction only]
      pfam01031
      Location:260532
      Dynamin_M; Dynamin central region
      pfam02212
      Location:571660
      GED; Dynamin GTPase effector domain
    7. XM_011529569.1XP_011527871.1  

      Conserved Domains (4) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:260479
      Dynamin_M; Dynamin central region
      pfam02212
      Location:518607
      GED; Dynamin GTPase effector domain
    8. XM_011529570.1XP_011527872.1  

      Conserved Domains (3) summary
      cd08771
      Location:68340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      COG0699
      Location:130357
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:260423
      Dynamin_M; Dynamin central region

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      42353274..42391928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)