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

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: mouse all

Genomic context

Location:: 21q22.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109.20200815	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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of myxovirus-resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis.
Title: Expression of myxovirus-resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis.
New data correct a long-standing misinterpretation in the MxA literature and provide evidence for membraneless MxA biomolecular condensates in the uninfected cell cytoplasm.
Title: Human Antiviral Protein MxA Forms Novel Metastable Membraneless Cytoplasmic Condensates Exhibiting Rapid Reversible Tonicity-Driven Phase Transitions.
Rapidly evolving MxA residues yield super-restrictor antiviral proteins.
Title: Combinatorial mutagenesis of rapidly evolving residues yields super-restrictor antiviral proteins.
Overexpression of IFNAR1, MX1 and signal transducer and activator of transcription 1 (Stat1) indicated the endogenous IFNa activation in tumour microenvironment, which correlated with immunosuppression status in head and neck squamous cell carcinomas (HNSCC) patients
Title: Interferon-alpha promotes immunosuppression through IFNAR1/STAT1 signalling in head and neck squamous cell carcinoma.
Distinguishing pustular psoriasis and acute generalized exanthematous pustulosis on the basis of plasmacytoid dendritic cells and MxA protein.
Title: Distinguishing pustular psoriasis and acute generalized exanthematous pustulosis on the basis of plasmacytoid dendritic cells and MxA protein.
MxA efficiently blocks viral replication in vitro as well as in MxA transgenic mice.
Title: Human MxA is a potent interspecies barrier for the novel bat-derived influenza A-like virus H18N11.
Integrin alpha5beta6 down-regulation causes a significant increase in donor cancer cells, and their exosomes, of two molecules that have a tumor suppressive role, STAT1 and MX1.
Title: Exosomal αvβ6 integrin is required for monocyte M2 polarization in prostate cancer.
naturally occurring mutations in the human MX1 gene can influence MxA function
Title: Effects of allelic variations in the human myxovirus resistance protein A on its antiviral activity.
MxA conformational dynamics through GTP hydrolysis revealed by single-molecule fluorescence resonance energy transfer.
Title: Conformational dynamics of dynamin-like MxA revealed by single-molecule FRET.
IL28B and MxA gene genotypes were detected among 231 chronic hepatitis C (CHC) carriers, 428 subjects with hepatitis C virus spontaneous clearance and 662 CHC patients with pegylated IFN-alpha and ribavirin (pegIFN-alpha/RBV) treatment.
Title: Influence of IL28B and MxA gene polymorphisms on HCV clearance in Han Chinese population.

Submit: New GeneRIF Correction See all GeneRIFs (135)

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
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310729P8 (e-PCR)
- UniSTS:272657

PMC310729P9 (e-PCR)
- UniSTS:272658

RH70302 (e-PCR)
- UniSTS:46866

GDB:185157 (e-PCR)
- UniSTS:155413

MX1_1629 (e-PCR)
- UniSTS:280860

SHGC-6908 (e-PCR)
- UniSTS:10559

GDB:192322 (e-PCR)
- UniSTS:155713

D21S1260 (e-PCR), detects polymorphism
- UniSTS:65860

SHGC-5964 (e-PCR)
- UniSTS:52323

MX1 (e-PCR)
- UniSTS:506212

PMC154027P2 (e-PCR)
- UniSTS:271285

SHGC-2323 (e-PCR)
- UniSTS:173510

PMC321570P12 (e-PCR)
- UniSTS:273115

D5S1597E (e-PCR)
- UniSTS:151019

SHGC-87654 (e-PCR)
- UniSTS:72944

Homology

Homologs of the MX1 gene: The MX1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, rat, zebrafish, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 115 organisms have orthologs with human gene MX1
Orthologs

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	IDA Inferred from Direct Assay more info	PubMed
dynamin family protein polymerization involved in mitochondrial fission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
innate immune response	TAS Traceable Author Statement more info	PubMed
membrane fusion	IBA Inferred from Biological aspect of Ancestor 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
organelle fission	IBA Inferred from Biological aspect of Ancestor 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 more info	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
microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mitochondrial 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

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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)

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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.

Genomic

NG_027788.2 RefSeqGene

Range

4966..43622

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144925.2 → NP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
NM_001178046.3 → NP_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, EB388095, M33882

Consensus CDS

CCDS13673.1

UniProtKB/Swiss-Prot

P20591

Related

ENSP00000410523.2, ENST00000455164.6

Conserved Domains (4) summary

smart00302
Location:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
NM_001282920.1 → NP_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:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 424

Dynamin_M; Dynamin central region
NM_002462.5 → NP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p13 Primary Assembly

Range

41420329..41459214

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529568.2 → XP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_017028349.2 → XP_016883838.1 interferon-induced GTP-binding protein Mx1 isoform X1

UniProtKB/Swiss-Prot

P20591

Conserved Domains (4) summary

smart00302
Location:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_017028350.1 → XP_016883839.1 interferon-induced GTP-binding protein Mx1 isoform X1

UniProtKB/Swiss-Prot

P20591

Conserved Domains (4) summary

smart00302
Location:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_005260979.2 → XP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_017028351.2 → XP_016883840.1 interferon-induced GTP-binding protein Mx1 isoform X2

Conserved Domains (4) summary

smart00302
Location:518 → 607

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 493

Dynamin_M; Dynamin central region
XM_005260980.2 → XP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_005260981.2 → XP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_005260982.2 → XP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_017028352.1 → XP_016883841.1 interferon-induced GTP-binding protein Mx1 isoform X2

Conserved Domains (4) summary

smart00302
Location:518 → 607

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 493

Dynamin_M; Dynamin central region
XM_005260978.4 → XP_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:571 → 660

GED; Dynamin GTPase effector domain

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 546

Dynamin_M; Dynamin central region
XM_011529570.3 → XP_011527872.1 interferon-induced GTP-binding protein Mx1 isoform X3

Conserved Domains (3) summary

cd08771
Location:68 → 340

DLP_1; Dynamin_like protein family includes dynamins and Mx proteins

COG0699
Location:130 → 357

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

pfam01031
Location:261 → 425

Dynamin_M; Dynamin central region