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

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 and Placenta Accreta. Among its related pathways are Mitochondrial protein import and Transport to the Golgi and subsequent modification. 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

Enhancers for MTX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MTX1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for MTX1 Gene

Chromosome:
1
Start:
155,208,699 bp from pter
End:
155,213,839 bp from pter
Size:
5,141 bases
Orientation:
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:
    Q13505-MTX1_HUMAN
    Recommended name:
    Metaxin-1
    Protein Accession:
    Q13505
    Secondary Accessions:
    • B1AVR9
    • B1AVS0
    • B2R9P4
    • Q9BUU3

    Protein attributes for MTX1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 Lys 187, Lys 190, Lys 218, Lys 227, and Lys 317
  • 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

Protein Domains for MTX1 Gene

Suggested Antigen Peptide Sequences for MTX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13505

UniProtKB/Swiss-Prot:

MTX1_HUMAN :
  • Belongs to the metaxin family.
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).
genes like me logo Genes that share phenotypes with MTX1: view

Animal Model Products

miRNA for MTX1 Gene

miRTarBase miRNAs that target MTX1

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

COMPARTMENTS
Jensen Localization Image for MTX1 Gene COMPARTMENTS Subcellular localization image for MTX1 gene
Compartment Confidence
mitochondrion 5
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:0005741 mitochondrial outer membrane IEA --
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:0044267 cellular protein metabolic process TAS --
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:

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: -
SP8:

Relevant External Links for MTX1 Gene

GeneLoc Exon Structure for
MTX1
ECgene alternative splicing isoforms for
MTX1

Expression for MTX1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for MTX1 Gene



SOURCE GeneReport for Unigene cluster for MTX1 Gene Hs.490874

genes like me logo Genes that share expression patterns with MTX1: view

Protein tissue co-expression partners for MTX1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
cow
(Bos Taurus)
Mammalia MTX1 35
  • 92.01 (n)
  • 93.06 (a)
MTX1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTX1 35
  • 83.48 (n)
  • 79.65 (a)
MTX1 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtx1 35
  • 82.36 (n)
  • 77.01 (a)
Mtx1 16
Mtx1 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTX1 35
  • 99.5 (n)
  • 99.36 (a)
MTX1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtx1 35
  • 77.26 (n)
  • 71 (a)
oppossum
(Monodelphis domestica)
Mammalia MTX1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTX1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12246 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25793 35
zebrafish
(Danio rerio)
Actinopterygii mtx1b 35
  • 64.66 (n)
  • 63.49 (a)
mtx1a 36
  • 59 (a)
OneToMany
mtx1b 36
  • 62 (a)
OneToMany
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)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F39B2.11 37
  • 35 (a)
mtx-1 35
  • 43.85 (n)
  • 36.92 (a)
mtx-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.877 36
  • 29 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MTX1 (if available)
TreeFam:
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.org 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
VAR_047376 -

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

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)
MTX1

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

Disorders for MTX1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
gaucher's disease
  • lipoid histiocytosis
placenta accreta
- 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)
MTX1
Human Genome Epidemiology (HuGE) Navigator
MTX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTX1
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. Structure and organization of the human metaxin gene (MTX) and pseudogene. (PMID: 8660965) Long G.L. … Bornstein P. (Genomics 1996) 3 4 23 67
  2. Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PMID: 17510655) Kozjak-Pavlovic V. … Rudel T. (EMBO Rep. 2007) 3 23
  3. 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
  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. 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 23

Products for MTX1 Gene

Sources for MTX1 Gene

Content