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MTX1 Gene

protein-coding   GIFtS: 61
GCID: GC01P155178

Metaxin 1


(Previous symbol: MTX)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Metaxin 11 2
MTX1 2 3
MTXN2 3 5
Mitochondrial Outer Membrane Import Complex Protein 12 3
metaxin-12

External Ids:    HGNC: 75041   Entrez Gene: 45802   Ensembl: ENSG000001731717   OMIM: 6006055   UniProtKB: Q135053   

Export aliases for MTX1 gene to outside databases

Previous GC identifers: GC01M152934 GC01P150919 GC01P151956 GC01P152395 GC01P151991 GC01P153445 GC01P126541


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MTX1 Gene:
MTX1 (metaxin 1) is a protein-coding gene. Diseases associated with MTX1 include placenta accreta, and gaucher's disease. An important paralog of this gene is MTX2.

UniProtKB/Swiss-Prot: MTX1_HUMAN, Q13505
Function: Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By
similarity)

Gene Wiki entry for MTX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTX1 gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTX1 promoter sequence
   Search Chromatin IP Primers for MTX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21

MTX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTX1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P155178:  view genomic region     (about GC identifiers)

Start:
155,178,490 bp from pter      End:
155,183,625 bp from pter
Size:
5,136 bases      Orientation:
plus strand

1 alternative location:
Chr1+,NW_003315906 15,377-18,862     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTX1_HUMAN, Q13505 (See protein sequence)
Recommended Name: Metaxin-1  
Size: 466 amino acids; 51477 Da
Subunit: Interacts with MTX2/metaxin-2. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and
CHCHD3
Secondary accessions: B1AVR9 B1AVS0 B2R9P4 Q9BUU3
Alternative splicing: 3 isoforms:  Q13505-1   Q13505-2   Q13505-3   

Explore the universe of human proteins at neXtProt for MTX1: NX_Q13505

Explore proteomics data for MTX1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys187, Lys190, Lys218, Lys227, Lys317
  • Modification sites at PhosphoSitePlus

  • See MTX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002446.3  NP_942584.2  

    ENSEMBL proteins: 
     ENSP00000357360   ENSP00000317106   ENSP00000408749   ENSP00000476632  
    Reactome Protein details: Q13505

    MTX1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MTX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR010987 Glutathione-S-Trfase_C-like
     IPR019564 Sam37/metaxin

    Graphical View of Domain Structure for InterPro Entry Q13505

    ProtoNet protein and cluster: Q13505

    UniProtKB/Swiss-Prot: MTX1_HUMAN, Q13505
    Similarity: Belongs to the metaxin family


    MTX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTX1_HUMAN, Q13505
    Function: Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By
    similarity)

         Genatlas biochemistry entry for MTX1:
    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

    Phenotypes:
         1 GenomeRNAi human phenotype for MTX1:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mtx1):
     homeostasis/metabolism  mortality/aging 

    MTX1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MTX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MTX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MTX1

    miRNA
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    miRTarBase miRNAs that target MTX1:
    hsa-mir-26b-5p (MIRT029412), hsa-mir-1 (MIRT002819)

    Block miRNA regulation of human, mouse, rat MTX1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate MTX1:
    hsa-miR-875-3p hsa-miR-3673 hsa-miR-206 hsa-miR-613 hsa-miR-1 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidMTX1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MTX1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): MTX1 (NM_198883)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTX1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for MTX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTX1_HUMAN, Q13505: Membrane; Single-pass type I membrane protein (Potential). Mitochondrion outer membrane (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol2
    nucleus2
    endoplasmic reticulum1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IEA--

    MTX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MTX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    2Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MTX1
        Mitochondrial protein import



    MTX1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MTX1
    Interactions:

        GeneGlobe Interaction Network for MTX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for MTX1 (Q135052, 3 ENSP000003573604) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTX2O754312, 3, ENSP000002494424MINT-5007196 MINT-4791404 I2D: score=6 STRING: ENSP00000249442
    SAMM50Q9Y5122, ENSP000003454454MINT-5007196 MINT-4791404 STRING: ENSP00000345445
    MINOS1Q5TGZ03, ENSP000003255624I2D: score=1 STRING: ENSP00000325562
    TMBIM4Q9HC243, ENSP000003509654I2D: score=2 STRING: ENSP00000350965
    SGTAO437653, ENSP000002215664I2D: score=5 STRING: ENSP00000221566
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0044267cellular protein metabolic process TAS--

    MTX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTX1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MTX1 gene (2 alternative transcripts): 
    NM_002455.4  NM_198883.3  

    Unigene Cluster for MTX1:

    Metaxin 1
    Hs.490874  [show with all ESTs]
    Unigene Representative Sequence: NM_002455
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368376(uc001fjb.3 uc001fjc.3) ENST00000316721 ENST00000424959
    ENST00000609421 ENST00000481771 ENST00000495589 ENST00000495492
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MTX1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate MTX1:
    hsa-miR-875-3p hsa-miR-3673 hsa-miR-206 hsa-miR-613 hsa-miR-1 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidMTX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MTX1
    Predesigned siRNA for gene silencing in human, mouse, rat MTX1
    Clone
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    OriGene ORF clones in mouse, rat for MTX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MTX1 (NM_198883)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MTX1
    OriGene qSTAR qPCR primer pairs in human, mouse for MTX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTX1
      QuantiTect SYBR Green Assays in human, mouse, rat MTX1
      QuantiFast Probe-based Assays in human, mouse, rat MTX1

    Additional mRNA sequence: 

    AK313863.1 BC001906.1 DQ786325.1 

    14 DOTS entries:

    DT.100879437  DT.97806137  DT.100879419  DT.119310  DT.100879424  DT.121449588  DT.449806  DT.95109097 
    DT.100736963  DT.121449610  DT.92454137  DT.92454161  DT.95080493  DT.95279636 

    Selected AceView cDNA sequences (see all 284):

    BM773056 NM_198883 BM667867 BE294170 BQ720863 BQ643956 CB160892 BE797544 
    BQ937983 BC035616 BM987446 CR605982 BF969004 BG938637 CR591813 BM469657 
    BG249793 BQ892922 BM699265 BM669480 BE467854 BC001906 BX099640 BQ676410 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MTX1 (see all 8)    About this scheme

    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:                                                              -           -                                             


    ECgene alternative splicing isoforms for MTX1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTCCAGAG
    MTX1 Expression
    About this image


    MTX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MTX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.490874
        Custom PCR Arrays for MTX1
    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat MTX1
    QuantiFast Probe-based Assays in human, mouse, rat MTX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MTX1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mtx11 , 5 metaxin 11, 5 82.36(n)1
    77.01(a)1
      3 (39.01 cM)5
    178271  NM_013604.21  NP_038632.21 
     892090815 
    lizard
    (Anolis carolinensis)
    Reptilia MTX16
    metaxin 1
    65(a)
    1 ↔ 1
    GL344370.1(8142-15911)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.257932 Xenopus laevis transcribed sequence with weak similarity more 74.45(n)    BX854751.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mtx1b1 metaxin 1b 64.66(n)
    63.49(a)
      286740  NM_001007280.1  NP_001007281.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG93931 CG9393 42.75(n)
    29.55(a)
      41152  NM_141651.3  NP_649908.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F39B2.113
    mtx-11
    mtx-11 35(a)3
    43.85(n)1
    36.92(a)1
      I(14763302-14764411)3
    1733401  NM_061168.51  NP_493569.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MTX1 gene
    MTX22  MTX32  
    1 SIMAP similar gene for MTX1 using alignment to 2 protein entries:     MTX1_HUMAN (see all proteins):
    MTX3

    MTX1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MTX1
    PGOHUM00000245012


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTX1 (see all 95)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1879415121,2
    --155179856(+) GAAAAC/GCTTCT 2 -- int10--------
    rs1924069341,2
    --155179958(+) TCTCTA/GAGCCC 2 -- int10--------
    rs1443344211,2
    C,F--155180178(+) CACAAG/CATCAG 4 /N /K mis11Minor allele frequency- C:0.00NA 4552
    rs1459463431,2
    F--155180204(+) CCCTTC/TAGGTA 4 S L mis11Minor allele frequency- T:0.00NA 4552
    rs1513207271,2
    C--155180309(+) AGGGTA/CTGGTT 2 -- int10--------
    rs1846216911,2
    C--155180315(+) TGGTTG/TGTATA 2 -- int10--------
    rs1420529981,2
    C--155180356(+) CCCTTC/TGGACC 4 R W mis11Minor allele frequency- T:0.00NA 4552
    rs2006339861,2
    --155180359(+) TTCGGA/GCCAGT 4 T A mis10--------
    rs37388081,2
    C,F,H--155180466(-) TAGAAT/CTGACT 2 -- int1 ds50017Minor allele frequency- C:0.04NS EA 866
    rs1406391021,2
    --155180540(+) AAGGAA/GCAACA 2 -- int1 ds50010--------

    HapMap Linkage Disequilibrium report for MTX1 (155178490 - 155183625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for MTX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2988CNV Insertion18451855
    dgv3n68CNV Loss17160897
    nsv872458CNV Loss21882294
    nsv464084CNV Loss19166990
    nsv470741CNV Loss18288195
    nsv872457CNV Loss21882294
    esv28935CNV Gain19812545
    nsv527682CNV Gain19592680
    nsv8458CNV Gain18304495
    dgv132e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): MTX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTX1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600605    OMIM disorders: --

    10 diseases for MTX1:    
    About MalaCards
    placenta accreta    gaucher's disease    neuronal ceroid lipofuscinosis    tonsillitis
    parkinson's disease    malaria    cerebritis    thyroiditis
    prostatitis    neuronitis


    MTX1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MTX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaucher disease 73 2 15024629 (2)

    Genetic Association Database (GAD): MTX1
    Human Genome Epidemiology (HuGE) Navigator: MTX1 (1 document)

    Export disorders for MTX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MTX1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with MTX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and organization of the human metaxin gene (MTX) and pseudogene. (PubMed id 8660965)1, 2, 9 Long G.L.... Bornstein P. (Genomics 1996)
    2. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. (PubMed id 9331372)1, 2, 9 Winfield S.L.... Sidransky E. (Genome Res. 1997)
    3. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PubMed id 22114354)1, 2 Alkhaja A.K.... Deckers M. (Mol. Biol. Cell 2012)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane. (PubMed id 10381257)1, 2 Armstrong L.C.... Bornstein P. (J. Cell. Biochem. 1999)
    6. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. (PubMed id 7753840)1, 3 Bornstein P....Ginns E.I. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    7. 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. (PubMed id 17624330)1, 9 Xie J.... Capaldi R.A. (FEBS Lett. 2007)
    8. A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease. (PubMed id 15024629)1, 9 LaMarca M.E....Sidransky E. (J. Hum. Genet. 2004)
    9. Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PubMed id 17510655)1, 9 Kozjak-Pavlovic V....Rudel T. (EMBO Rep. 2007)
    10. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (PubMed id 23142642)1 Passantino R....Guarneri P. (Biochim. Biophys. Acta 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4580 HGNC: 7504 AceView: MTX1 Ensembl:ENSG00000173171 euGenes: HUgn4580
    ECgene: MTX1 H-InvDB: MTX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MTX1 gene:
    Search GeneIP for patents involving MTX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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