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Aliases for MTX1 Gene

Aliases for MTX1 Gene

  • Metaxin 1 2 3
  • MTXN 3 4 6
  • Mitochondrial Outer Membrane Import Complex Protein 1 3 4
  • MTX 3 4
  • Metaxin-1 3

External Ids for MTX1 Gene

Previous HGNC Symbols for MTX1 Gene

  • MTX

Previous GeneCards Identifiers for MTX1 Gene

  • GC01M152934
  • GC01P150919
  • GC01P151956
  • GC01P152395
  • GC01P151991
  • GC01P153445
  • GC01P155178
  • GC01P126541

Summaries for MTX1 Gene

GeneCards Summary for MTX1 Gene

MTX1 (Metaxin 1) is a Protein Coding gene. Diseases associated with MTX1 include gaucher's disease. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. An important paralog of this gene is MTX2.

UniProtKB/Swiss-Prot for MTX1 Gene

  • Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity).

Gene Wiki entry for MTX1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTX1 Gene

Genomics for MTX1 Gene

Regulatory Elements for MTX1 Gene

Transcription factor binding sites by QIAGEN in the MTX1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MTX1 Gene

155,208,699 bp from pter
155,213,834 bp from pter
5,136 bases
Plus strand

Genomic View for MTX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTX1 Gene

Proteins for MTX1 Gene

  • Protein details for MTX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B1AVR9
    • B1AVS0
    • B2R9P4
    • Q9BUU3

    Protein attributes for MTX1 Gene

    466 amino acids
    Molecular mass:
    51477 Da
    Quaternary structure:
    • Interacts with MTX2/metaxin-2. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3.

    Alternative splice isoforms for MTX1 Gene


neXtProt entry for MTX1 Gene

Proteomics data for MTX1 Gene at MOPED

Post-translational modifications for MTX1 Gene

  • Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys187, Lys190, Lys218, Lys227, and Lys317
  • Modification sites at PhosphoSitePlus

Other Protein References for MTX1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MTX1 Gene

Domains for MTX1 Gene

Protein Domains for MTX1 Gene

Suggested Antigen Peptide Sequences for MTX1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the metaxin family.
  • Belongs to the metaxin family.
genes like me logo Genes that share domains with MTX1: view

No data available for Gene Families for MTX1 Gene

Function for MTX1 Gene

Molecular function for MTX1 Gene

GENATLAS Biochemistry:
mouse metaxin homolog,also homolog to C elegans CelF39B2.1,ubiquitously expressed,involved in postimplantation embryo survival,component of the protein translocation apparatus of the outer mitochondrial membrane proteins into mitochondria
UniProtKB/Swiss-Prot Function:
Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity).

Phenotypes for MTX1 Gene

MGI mutant phenotypes for MTX1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MTX1:
genes like me logo Genes that share phenotypes with MTX1: view

miRNA for MTX1 Gene

miRTarBase miRNAs that target MTX1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MTX1 Gene

Localization for MTX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTX1 Gene

Membrane; Single-pass type I membrane protein. Mitochondrion outer membrane.

Subcellular locations from

Jensen Localization Image for MTX1 Gene COMPARTMENTS Subcellular localization image for MTX1 gene
Compartment Confidence
mitochondrion 4
cytosol 2
nucleus 2
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005743 mitochondrial inner membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MTX1: view

Pathways for MTX1 Gene

genes like me logo Genes that share pathways with MTX1: view

Pathways by source for MTX1 Gene

2 Reactome pathways for MTX1 Gene

Gene Ontology (GO) - Biological Process for MTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with MTX1: view

Transcripts for MTX1 Gene

Unigene Clusters for MTX1 Gene

Metaxin 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTX1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTX1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6: - - - - - - -
SP7: -

Relevant External Links for MTX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTX1 Gene

mRNA expression in normal human tissues for MTX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTX1 Gene

This gene is overexpressed in Whole Blood (7.2).

Protein differential expression in normal tissues for MTX1 Gene

This gene is overexpressed in Bone (24.6) and Nasal epithelium (15.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTX1 Gene

SOURCE GeneReport for Unigene cluster for MTX1 Gene Hs.490874

genes like me logo Genes that share expressions with MTX1: view

Expression partners for MTX1 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MTX1 Gene

Orthologs for MTX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MTX1 35
  • 92.01 (n)
  • 93.06 (a)
MTX1 36
  • 93 (a)
(Canis familiaris)
Mammalia MTX1 35
  • 83.48 (n)
  • 79.65 (a)
MTX1 36
  • 78 (a)
(Mus musculus)
Mammalia Mtx1 35
  • 82.36 (n)
  • 77.01 (a)
Mtx1 16
Mtx1 36
  • 74 (a)
(Pan troglodytes)
Mammalia MTX1 35
  • 99.5 (n)
  • 99.36 (a)
MTX1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Mtx1 35
  • 77.26 (n)
  • 71 (a)
(Monodelphis domestica)
Mammalia MTX1 36
  • 64 (a)
(Anolis carolinensis)
Reptilia MTX1 36
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12246 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25793 35
(Danio rerio)
Actinopterygii mtx1b 35
  • 64.66 (n)
  • 63.49 (a)
mtx1a 36
  • 59 (a)
mtx1b 36
  • 62 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3882 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003981 35
  • 43.98 (n)
  • 33.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9393 35
  • 42.75 (n)
  • 29.55 (a)
CG9393 36
  • 28 (a)
(Caenorhabditis elegans)
Secernentea F39B2.11 37
  • 35 (a)
mtx-1 35
  • 43.85 (n)
  • 36.92 (a)
mtx-1 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.877 36
  • 29 (a)
Species with no ortholog for MTX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTX1 Gene

Gene Tree for MTX1 (if available)
Gene Tree for MTX1 (if available)

Paralogs for MTX1 Gene

Paralogs for MTX1 Gene

(1) SIMAP similar genes for MTX1 Gene using alignment to 2 proteins: Pseudogenes for MTX1 Gene

genes like me logo Genes that share paralogs with MTX1: view

Variants for MTX1 Gene

Sequence variations from dbSNP and Humsavar for MTX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs390685 -- 155,212,356(-) ACAGG(C/T)AGGTC intron-variant
rs567950 -- 155,212,642(+) CCTCC(C/G)CACCT intron-variant
rs2075570 -- 155,212,373(-) TGGGT(A/G)GGCAG intron-variant
rs2734402 -- 155,211,363(-) TACTT(C/T)GGAAA intron-variant
rs2734403 -- 155,211,295(-) AACTT(A/T)GGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTX1 Gene

Variant ID Type Subtype PubMed ID
nsv464084 CNV Loss 19166990
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850
nsv470741 CNV Loss 18288195
nsv872457 CNV Loss 21882294
nsv872458 CNV Loss 21882294
nsv527682 CNV Gain 19592680
nsv2988 CNV Insertion 18451855
nsv8458 CNV Gain 18304495
esv28935 CNV Gain 19812545

Relevant External Links for MTX1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTX1 Gene

Disorders for MTX1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MTX1 Gene in MalaCards »

(1) Disease for MTX1 Gene

(1) Novoseek inferred disease relationships for MTX1 Gene

Disease -log(P) Hits PubMed IDs
gaucher disease 73 2

Relevant External Links for MTX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MTX1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for MTX1 Gene

Publications for MTX1 Gene

  1. Structure and organization of the human metaxin gene (MTX) and pseudogene. (PMID: 8660965) Long G.L. … Bornstein P. (Genomics 1996) 3 4 23
  2. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PMID: 9331372) Winfield S.L. … Sidransky E. (Genome Res. 1997) 3 4 23
  3. Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PMID: 17510655) Kozjak-Pavlovic V. … Rudel T. (EMBO Rep. 2007) 3 23
  4. A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease. (PMID: 15024629) LaMarca M.E. … Sidransky E. (J. Hum. Genet. 2004) 3 23
  5. The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil- helix domain-containing protein 3 and 6 and DnaJC11. (PMID: 17624330) Xie J. … Capaldi R.A. (FEBS Lett. 2007) 3 23

Products for MTX1 Gene

Sources for MTX1 Gene

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