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

Gene ID: 4599, updated on 22-May-2016
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 
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 
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
MX dynamin-like GTPase 1
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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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 details...

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

    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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
    CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
    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)