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

Gene ID: 4599, updated on 11-Jan-2020

Summary

Official Symbol
MX1provided by HGNC
Official Full Name
MX dynamin like GTPase 1provided by HGNC
Primary source
HGNC:HGNC:7532
See related
Ensembl:ENSG00000157601 MIM:147150
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; lncMX1-215
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]
Expression
Ubiquitous expression in spleen (RPKM 25.6), salivary gland (RPKM 13.5) and 24 other tissues See more
Orthologs

Genomic context

See MX1 in Genome Data Viewer
Location:
21q22.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 FAM3 metabolism regulating signaling molecule B Neighboring gene MX dynamin like GTPase 2 Neighboring gene transmembrane serine protease 2 Neighboring gene transmembrane protease serine 2 breakpoint cluster recombination region Neighboring gene uncharacterized LOC105372809 Neighboring gene prostate cancer expressed EZH2 associated transcript

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 replication is restricted by wild type MX1 (MxA); restriction is dependent on amino acids M527 in MX1 as assayed in U87-MG CD4+ CXCR4+ cells PubMed

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 dendritic cells PubMed
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of viral genome replication IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic neurotransmitter receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synapse structure or activity IBA
Inferred from Biological aspect of Ancestor
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 
synaptic vesicle budding from presynaptic endocytic zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol HDA PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine head IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic endocytic zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynapse IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_027788.2 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
    ENSP00000381601.2, ENST00000398600.6
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  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
    ENSP00000410523.2, ENST00000455164.6
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  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
    ENSP00000478441.1, ENST00000619682.1
    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:261424
    Dynamin_M; Dynamin central region
  4. NM_002462.5NP_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, EB388095, M33882
    Consensus CDS
    CCDS13673.1
    UniProtKB/Swiss-Prot
    P20591
    Related
    ENSP00000381599.3, ENST00000398598.8
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011529568.2XP_011527870.1  interferon-induced GTP-binding protein Mx1 isoform X1

    See identical proteins and their annotated locations for XP_011527870.1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  2. XM_017028349.2XP_016883838.1  interferon-induced GTP-binding protein Mx1 isoform X1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  3. XM_017028350.1XP_016883839.1  interferon-induced GTP-binding protein Mx1 isoform X1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  4. XM_005260979.2XP_005261036.1  interferon-induced GTP-binding protein Mx1 isoform X1

    See identical proteins and their annotated locations for XP_005261036.1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  5. XM_017028351.2XP_016883840.1  interferon-induced GTP-binding protein Mx1 isoform X2

    Conserved Domains (4) summary
    smart00302
    Location:518607
    GED; Dynamin GTPase effector domain
    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:261493
    Dynamin_M; Dynamin central region
  6. XM_005260980.2XP_005261037.1  interferon-induced GTP-binding protein Mx1 isoform X1

    See identical proteins and their annotated locations for XP_005261037.1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  7. XM_005260981.2XP_005261038.1  interferon-induced GTP-binding protein Mx1 isoform X1

    See identical proteins and their annotated locations for XP_005261038.1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  8. XM_005260982.2XP_005261039.1  interferon-induced GTP-binding protein Mx1 isoform X1

    See identical proteins and their annotated locations for XP_005261039.1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  9. XM_017028352.1XP_016883841.1  interferon-induced GTP-binding protein Mx1 isoform X2

    Conserved Domains (4) summary
    smart00302
    Location:518607
    GED; Dynamin GTPase effector domain
    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:261493
    Dynamin_M; Dynamin central region
  10. XM_005260978.4XP_005261035.1  interferon-induced GTP-binding protein Mx1 isoform X1

    See identical proteins and their annotated locations for XP_005261035.1

    UniProtKB/Swiss-Prot
    P20591
    Conserved Domains (4) summary
    smart00302
    Location:571660
    GED; Dynamin GTPase effector domain
    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:261546
    Dynamin_M; Dynamin central region
  11. XM_011529570.3XP_011527872.1  interferon-induced GTP-binding protein Mx1 isoform X3

    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:261425
    Dynamin_M; Dynamin central region
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