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    MTX1 metaxin 1 [ Homo sapiens (human) ]

    Gene ID: 4580, updated on 17-Jun-2024

    Summary

    Official Symbol
    MTX1provided by HGNC
    Official Full Name
    metaxin 1provided by HGNC
    Primary source
    HGNC:HGNC:7504
    See related
    Ensembl:ENSG00000173171 MIM:600605; AllianceGenome:HGNC:7504
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTX; MTXN
    Summary
    Predicted to be involved in mitochondrion organization. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MTX1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155208695..155213839)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154347258..154352402)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155178486..155183630)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mucin 1, cell surface associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155165957-155166792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155166793-155167628 Neighboring gene THBS3 antisense RNA 1 Neighboring gene microRNA 92b Neighboring gene thrombospondin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155176689-155177472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1398 Neighboring gene GBAP1 recombination region Neighboring gene glucosylceramidase beta 1 like, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155196727-155197304 Neighboring gene GBA recombination region Neighboring gene metaxin 1 like, pseudogene Neighboring gene glucosylceramidase beta 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155213585-155214548

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in inner mitochondrial membrane organization IC
    Inferred by Curator
    more info
    PubMed 
    involved_in lactation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein insertion into mitochondrial outer membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MIB complex HDA PubMed 
    part_of SAM complex HDA PubMed 
    part_of SAM complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SAM complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial outer membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002455.5NP_002446.3  metaxin-1 isoform 1

      See identical proteins and their annotated locations for NP_002446.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC234582, AI241389, AK313863, BC001906, BG717732
      Consensus CDS
      CCDS1100.1
      UniProtKB/Swiss-Prot
      A0A0A0MRK6, B1AVR9, B1AVS0, B2R9P4, Q13505, Q9BUU3
      Related
      ENSP00000357360.3, ENST00000368376.8
      Conserved Domains (2) summary
      cd03212
      Location:255391
      GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
      pfam10568
      Location:156293
      Tom37; Outer mitochondrial membrane transport complex protein
    2. NM_198883.3NP_942584.2  metaxin-1 isoform 2

      See identical proteins and their annotated locations for NP_942584.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AI241389, BC001906, BG717732
      Consensus CDS
      CCDS1101.1
      UniProtKB/Swiss-Prot
      Q13505
      UniProtKB/TrEMBL
      A0A0C4DFQ1
      Related
      ENSP00000317106.4, ENST00000316721.8
      Conserved Domains (2) summary
      cd03212
      Location:227360
      GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
      cd03078
      Location:154226
      GST_N_Metaxin1_like; GST_N family, Metaxin subfamily, Metaxin 1-like proteins; composed of metaxins 1 and 3, and similar proteins including Tom37 from fungi. Mammalian metaxin (or metaxin 1) and the fungal protein Tom37 are components of preprotein import complexes of the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155208695..155213839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      7274..18867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154347258..154352402
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)