Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MTX1 Gene

Aliases for MTX1 Gene

  • Metaxin 1 2 3 5
  • Mitochondrial Outer Membrane Import Complex Protein 1 3 4
  • MTXN 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 Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is MTX3.

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

Additional gene information for MTX1 Gene

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

Genomics for MTX1 Gene

Regulatory Elements for MTX1 Gene

Enhancers for MTX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H156111 1.8 FANTOM5 ENCODE dbSUPER 11.6 +912.7 912691 19.4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 GON4L CLK2 RRNAD1 KIAA0907 LOC246784 LMNA MSTO1 MSTO2P PRCC ISG20L2
GH01H154324 1.7 FANTOM5 ENCODE dbSUPER 11.6 -881.6 -881584 5.7 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF207 FOS ZNF548 CLK2 FLAD1 PYGO2 UBAP2L CHTOP ENSG00000272654 LOC101928120 SLC27A3 NUP210L CRTC2
GH01H155242 1.5 ENCODE dbSUPER 11.9 +35.5 35544 2.9 FEZF1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SP3 ZFP41 MEF2D ZNF610 KIAA0907 GON4L ENSG00000271267 CLK2 MSTO1 MSTO2P THBS3 RUSC1-AS1 LOC101928120 SHC1
GH01H155191 1.4 ENCODE dbSUPER 12 -13.5 -13497 6.5 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A ZNF2 ZNF766 ZNF207 ZNF143 GBAP1 CLK2 GON4L UBAP2L LMNA FLAD1 KIAA0907 SYT11 ENSG00000246203 MSTO1
GH01H155094 1.4 Ensembl ENCODE dbSUPER 11.5 -114.3 -114272 0.5 NFIB ARID4B KLF17 ZNF2 RAD21 ZEB1 RFX5 GLIS2 EGR1 ZNF143 EFNA1 EFNA4 ENSG00000251246 SLC50A1 KRTCAP2 MUC1 ENSG00000231064 MTX1 THBS3 TRIM46
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTX1 on UCSC Golden Path with GeneCards custom track

Promoters for MTX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014044 501 1601 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SP3

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

Genomic Locations for MTX1 Gene

Genomic Locations for MTX1 Gene
5,141 bases
Plus strand

Genomic View for MTX1 Gene

Genes around MTX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9.

    Alternative splice isoforms for MTX1 Gene


neXtProt entry for MTX1 Gene

Post-translational modifications for MTX1 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at posLast=187187, posLast=190190, Lys218, posLast=227227, and Lys317
  • Modification sites at PhosphoSitePlus

Other Protein References for MTX1 Gene

No data available for DME Specific Peptides for MTX1 Gene

Domains & Families for MTX1 Gene

Gene Families for MTX1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

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 From GWAS Catalog for MTX1 Gene

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

Animal Model Products

CRISPR Products

miRNA for MTX1 Gene

miRTarBase miRNAs that target MTX1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTX1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with MTX1: view

Pathways & Interactions 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 IEA --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MTX1: view

No data available for SIGNOR curated interactions for MTX1 Gene

Drugs & Compounds for MTX1 Gene

No Compound Related Data Available

Transcripts for MTX1 Gene

Unigene Clusters for MTX1 Gene

Metaxin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MTX1 Gene

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

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for MTX1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTX1 Gene

Protein tissue co-expression partners for MTX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTX1 Gene:


SOURCE GeneReport for Unigene cluster for MTX1 Gene:


Evidence on tissue expression from TISSUES for MTX1 Gene

  • Nervous system(2.8)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with MTX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia MTX1 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia MTX1 34 33
  • 92.01 (n)
(Canis familiaris)
Mammalia MTX1 33 34
  • 83.48 (n)
(Mus musculus)
Mammalia Mtx1 33 16 34
  • 82.36 (n)
(Rattus norvegicus)
Mammalia Mtx1 33
  • 77.26 (n)
(Monodelphis domestica)
Mammalia MTX1 34
  • 64 (a)
(Anolis carolinensis)
Reptilia MTX1 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12246 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25793 33
(Danio rerio)
Actinopterygii mtx1b 33 34
  • 64.66 (n)
mtx1a 34
  • 59 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3882 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003981 33
  • 43.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9393 34 33
  • 42.75 (n)
(Caenorhabditis elegans)
Secernentea mtx-1 33 34
  • 43.85 (n)
F39B2.11 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.877 34
  • 29 (a)
Species where no ortholog for MTX1 was found in the sources mined by GeneCards:
  • 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
rs1000441255 -- 155,209,566(+) CTAGT(C/T)CTTGC intron-variant, upstream-variant-2KB
rs1001048297 -- 155,208,357(+) TGGCG(A/G)AGCAA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001170447 -- 155,210,003(+) CCACA(A/G)ATACT intron-variant, upstream-variant-2KB
rs1001397487 -- 155,208,618(+) GGCCG(C/T)GACCC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001947023 -- 155,207,240(+) ACGGG(A/G)ATGTA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv946411 CNV duplication 23825009
nsv8458 CNV gain 18304495
nsv547963 CNV loss 21841781
nsv547961 CNV loss 21841781
nsv527682 CNV gain 19592680
nsv470741 CNV loss 18288195
nsv464084 CNV loss 19166990
nsv2988 CNV insertion 18451855
nsv1161687 CNV deletion 26073780
nsv1010146 CNV gain 25217958
esv3587619 CNV loss 21293372
esv3578198 CNV loss 25503493
esv28935 CNV gain 19812545
esv2764209 CNV gain+loss 21179565
esv2758971 CNV gain 17122850
dgv55e214 CNV gain 21293372
dgv3n68 CNV loss 17160897
dgv107e212 CNV gain 25503493

Variation tolerance for MTX1 Gene

Gene Damage Index Score: 2.23; 40.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTX1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MTX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTX1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gaucher's disease
  • acid beta-glucosidase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search MTX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MTX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTX1 Gene

Publications for MTX1 Gene

  1. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PMID: 9331372) Winfield SL … Sidransky E (Genome research 1997) 3 4 22 60
  2. Structure and organization of the human metaxin gene (MTX) and pseudogene. (PMID: 8660965) Long GL … Bornstein P (Genomics 1996) 3 4 22 60
  3. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PMID: 22114354) Alkhaja AK … Deckers M (Molecular biology of the cell 2012) 3 4 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PMID: 17510655) Kozjak-Pavlovic V … Rudel T (EMBO reports 2007) 3 22 60

Products for MTX1 Gene

Sources for MTX1 Gene

Loading form....