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    Mtx1 metaxin 1 [ Mus musculus (house mouse) ]

    Gene ID: 17827, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mtx1provided by MGI
    Official Full Name
    metaxin 1provided by MGI
    Primary source
    MGI:MGI:103025
    See related
    Ensembl:ENSMUSG00000064068 AllianceGenome:MGI:103025
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mtx; Gcap6
    Summary
    Predicted to be involved in mitochondrion organization. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; cerebral cortex ventricular layer; pharyngo-tympanic tube; skin; and submandibular gland primordium. Orthologous to human MTX1 (metaxin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 88.2), adrenal adult (RPKM 34.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mtx1 in Genome Data Viewer
    Location:
    3 F1; 3 39.01 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (89116388..89121214, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (89209081..89213907, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 45927 Neighboring gene secretory carrier membrane protein 3 Neighboring gene predicted gene 16069 Neighboring gene endosomal transmembrane epsin interactor 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:88994426-88994609 Neighboring gene STARR-positive B cell enhancer ABC_E275 Neighboring gene STARR-positive B cell enhancer ABC_E10196 Neighboring gene predicted gene, 23269 Neighboring gene glucosylceramidase beta 1 Neighboring gene STARR-positive B cell enhancer ABC_E11197 Neighboring gene thrombospondin 3 Neighboring gene STARR-seq mESC enhancer starr_08226 Neighboring gene predicted gene, 57704 Neighboring gene microRNA 92b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Metaxin deficiency alters mitochondrial membrane permeability and leads to resistance to TNF-induced cell killing. Ono K, et al. Protein Cell, 2010 Feb. PMID 21088703, Free PMC Article
    2. SP1-binding elements, within the common metaxin-thrombospondin 3 intergenic region, participate in the regulation of the metaxin gene. Collins M, et al. Nucleic Acids Res, 1996 Oct 1. PMID 8871542, Free PMC Article
    3. Targeting and insertion of the cholesterol-binding translocator protein into the outer mitochondrial membrane. Rone MB, et al. Biochemistry, 2009 Jul 28. PMID 19552401, Free PMC Article
    4. Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Liu Y, et al. Proc Natl Acad Sci U S A, 1998 Mar 3. PMID 9482915, Free PMC Article
    5. Structure and organization of the human metaxin gene (MTX) and pseudogene. Long GL, et al. Genomics, 1996 Apr 15. PMID 8660965

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of SAM complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SAM complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of SAM complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    metaxin-1
    Names
    mitochondrial outer membrane import complex protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001161824.2 → NP_001155296.2  metaxin-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC161600
      UniProtKB/Swiss-Prot
      P47802
      Related
      ENSMUSP00000133282.2, ENSMUST00000173477.8
      Conserved Domains (2) summary
      cd03212
      Location:105 → 241
      GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
      pfam10568
      Location:23 → 143
      Tom37; Outer mitochondrial membrane transport complex protein

    2. NM_001357367.2 → NP_001344296.2  metaxin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC161600
      UniProtKB/Swiss-Prot
      P47802
      UniProtKB/TrEMBL
      D3Z3F4
      Related
      ENSMUSP00000113986.3, ENSMUST00000119222.9
      Conserved Domains (2) summary
      cd03212
      Location:144 → 280
      GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
      pfam10568
      Location:23 → 182
      Tom37; Outer mitochondrial membrane transport complex protein

    3. NM_013604.3 → NP_038632.3  metaxin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC161600
      Consensus CDS
      CCDS17494.2
      UniProtKB/Swiss-Prot
      P47802
      UniProtKB/TrEMBL
      E9Q6T4, F7C846, Q8R5C0
      Related
      ENSMUSP00000073261.6, ENSMUST00000073572.12
      Conserved Domains (2) summary
      cd03212
      Location:106 → 242
      GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
      pfam10568
      Location:23 → 144
      Tom37; Outer mitochondrial membrane transport complex protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      89116388..89121214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P47802.1 GenPept UniProtKB/Swiss-Prot:P47802

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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