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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTX1 Gene

protein-coding   GIFtS: 61
GCID: GC01P155178

Metaxin 1


(Previous symbol: MTX)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MTX1 Gene: 
MTX1 (metaxin 1) is a protein-coding gene. Diseases associated with MTX1 include placenta accreta, and gaucher's disease, and among its related super-pathways are Post-translational protein modification. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MTX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Mitochondrion outer membrane (By
similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13505

  • MTX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTX1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002446.2  NP_942584.1  

    ENSEMBL proteins: 
     ENSP00000357360   ENSP00000317106   ENSP00000408749  
    Reactome Protein details: Q13505
    Human Recombinant Protein Products for MTX1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTX1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    MTX1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 - Custom generated mouse model solutions for MTX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-1 (MIRT002819)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTX1
    6 QIAGEN miScript miRNA 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:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTX1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MTX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    2Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for MTX1
        Mitochondrial Protein Import
    Metabolism of proteins



    MTX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/21 Interacting proteins for MTX1 (Q135052, 3 ENSP000003573604) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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
    IMMTQ168912, ENSP000003872624MINT-5007196 STRING: ENSP00000387262
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MTX1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MTX1 gene (2 alternative transcripts): 
    NM_002455.3  NM_198883.2  

    Unigene Cluster for MTX1:

    Metaxin 1
    Hs.490874  [show with all ESTs]
    Unigene Representative Sequence: NM_002455
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368376(uc001fjb.3 uc001fjc.3) ENST00000316721 ENST00000424959
    ENST00000481771 ENST00000495589 ENST00000495492

    miRNA
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    6 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MTX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTX1
    Clone
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    OriGene clones in human, mouse for MTX1 (see all 12)
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of MTX1 
                         Customized lentivirus expression plasmids for stable overexpression of MTX1 
    Primer
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    OriGene qPCR primer pairs and template standards for MTX1
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTX1
      QIAGEN 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 

    24/284 AceView cDNA sequences (see all 284):

    AI418844 BQ896701 CF130973 CR614718 BQ670031 NM_002455 BM930966 BM705893 
    BQ957644 BM469657 BG249793 BQ892922 BM699265 BM669480 BE467854 BC001906 
    BX099640 BQ676410 AW137175 BM829502 BQ671021 BE907424 BF057234 AX775989 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MTX1 expression in normal human tissues (normalized intensities)      MTX1 embryonic expression: see
    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 
     5/31 selected tissues (see all 31) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Breast
             breast ; myoepithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   

    See MTX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTX1

    SOURCE GeneReport for Unigene cluster: Hs.490874
        SABiosciences Custom PCR Arrays for MTX1
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MTX1 gene from 6/15 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 82.17(n)1
    76.96(a)1
      3 (39.01 cM)5
    178271  NM_001161824.11  NP_001155296.11 
     892090815 
    lizard
    (Anolis carolinensis)
    Reptilia MTX16
    Uncharacterized protein
    66(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 42.97(n)
    29.87(a)
      41152  NM_141651.2  NP_649908.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F39B2.113
    mtx-11
    Protein MTX-11 35(a)3
    43.61(n)1
    36.92(a)1
      I(14763302-14764411)3
    1733401  NM_061168.41  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)
    About This Section
    Paralogs for MTX1 gene
    MTX22  MTX32  
    2 SIMAP similar genes for MTX1 using alignment to 2 protein entries:     MTX1_HUMAN (see all proteins):
    MTX3    MTX2

    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/95 SNPs in MTX1 are shown (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
    ----------
    VAR_0473764
    ----see VAR_0473762 T S mis40--------
    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

    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600605    OMIM disorders: --

    3 diseases for MTX1:    About MalaCards
    placenta accreta    gaucher's disease    parkinson's disease


    MTX1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for MTX1 gene, integrated from 9 sources (see all 35):
    (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. (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. (1997)
    3. MINOS1 is a conserved component of mitofilin complexe s and required for mitochondrial function and cristae organization. (PubMed id 22114354)1, 2 Alkhaja A.K....Deckers M. (2012)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (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. (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. (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. (2004)
    9. Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PubMed id 17510655)1, 9 Kozjak-Pavlovic V....Rudel T. (2007)
    10. Identifying protein partners of CLN8, an ER-resident p rotein involved in neuronal ceroid lipofuscinosis. (PubMed id 23142642)1 Passantino R....Guarneri P. (2013)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 4580 HGNC: 7504 AceView: MTX1 Ensembl:ENSG00000173171 euGenes: HUgn4580
    ECgene: MTX1 H-InvDB: MTX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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