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

MTX1 Gene

protein-coding   GIFtS: 57
GCID: GC01P155178

metaxin 1


(Previous symbol: MTX)
 Explore 3 diseases affiliated with
MTX1 via our new
 Human Malady Compendium 
Biological research products
for MTX1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Metaxin 11 2
MTXN1 2 3 5
MTX1 2 3
Mitochondrial Outer Membrane Import Complex Protein 12 3
Metaxin-11

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

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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+,PATCHES 155,195,535-155,199,020     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13505

  • MTX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000357360   ENSP00000317106   ENSP00000408749  
    Reactome Protein details: Q13505
    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MTX1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    miRTarBase miRNAs that target MTX1:
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    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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTX1 (see all 7)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTX1

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

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

    MTX1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Mitochondrial Protein Import
    Mitochondrial Protein Import1.00
    2Asparagine N-linked glycosylation
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    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, 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 235 Homo sapiens; Mar 10 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,
    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, 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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTX1

    Additional cDNA 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):

    CR608869 BQ012471 BM015991 CR619225 BQ680982 CF128887 AX775989 AL524250 
    BQ051223 AI917317 AI084516 BM977517 AI359713 BQ720863 BQ643956 BM773056 
    BM667867 NM_198883 BF969004 BC035616 BE294170 BM987446 CB160892 BQ937983 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CATTCCAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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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    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 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia MTX16
    --
    71(a)
    1 ↔ 1
    GL344370.1(8154-15830)
    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, UniProtKB, 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

    10/88 NCBI SNPs in MTX1 are shown (see all 88    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387794071,2
    --155176869(+) ACAACA/GTAGAA 6 -- int1 us2k10--------
    rs1428088101,2
    --155177009(+) CCCACC/TATCTG 6 -- int1 us2k10--------
    rs765453951,2
    C,--155177047(+) CAGCTC/TCTCTG 6 -- int1 us2k12Minor allele frequency- T:0.03NA 122
    rs1151034111,2
    C,F,--155177054(+) TCTGCC/TTCCTG 6 -- us2k1 int11Minor allele frequency- T:0.04WA 118
    rs1507949731,2
    --155177147(+) CCATCA/GGCCCA 6 -- int1 us2k10--------
    rs1392238561,2
    --155177275(+) AGGCTG/TCTCTC 6 -- us2k1 int10--------
    rs1178223661,2
    F,--155177292(+) CCTAGG/AGTGCC 6 -- int1 us2k11Minor allele frequency- A:0.02EA 120
    rs1999613101,2
    --155177561(+) GAGAGC/TGGTCT 6 -- us2k1 int10--------
    rs168366841,2
    C,F,H,--155177960(-) GCGCTG/ATGTGC 6 -- us2k15Minor allele frequency- A:0.02MN EA NS NA 532
    rs1497657011,2
    --155178024(+) GGCAGA/GGGCAG 6 -- us2k10--------

    HapMap Linkage Disequilibrium report for MTX1 (155178490 - 155183625 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for MTX1
         5 CNVs: 30442 65018 3315 4257 74730

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTX1
    DNA2.0 Custom Variant and Variant Library Synthesis for MTX1

    (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.)
    About This Section

    MTX1 for disorders           About GeneDecksing

    OMIM gene information: 600605    OMIM disorders: --

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

    1 Novoseek 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)

    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 31):
    (articles sorted by number of sources associating them with MTX1)
        Utopia: connect your pdf to the dynamic
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    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. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Conserved roles of Sam50 and metaxins in VDAC biogenesis. (PubMed id 17510655)1, 9 Kozjak-Pavlovic V....Rudel T. (2007)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)1 Okada Y....Tanaka T. (2012)

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    (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, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for MTX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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