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    MTX3 metaxin 3 [ Homo sapiens (human) ]

    Gene ID: 345778, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MTX3provided by HGNC
    Official Full Name
    metaxin 3provided by HGNC
    Primary source
    HGNC:HGNC:24812
    See related
    Ensembl:ENSG00000177034 MIM:619336; AllianceGenome:HGNC:24812
    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
    Summary
    Predicted to be involved in mitochondrion organization. Located in mitochondrion. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTX3 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (79976716..79991262, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (80460567..80475113, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79272539..79287085, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724557 Neighboring gene uncharacterized LOC105379048 Neighboring gene long intergenic non-protein coding RNA 1455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22727 Neighboring gene thrombospondin 4 Neighboring gene RBX1 pseudogene 2 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The zebrafish metaxin 3 gene (mtx3): cDNA and protein structure, and comparison to zebrafish metaxins 1 and 2. Adolph KW. Gene, 2004 Apr 14. PMID 15087125
    2. Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex. Huynen MA, et al. Biochim Biophys Acta, 2016 Jan. PMID 26477565
    3. Comprehensive Proteomic Analysis of PGC7-Interacting Proteins. Liu H, et al. J Proteome Res, 2017 Sep 1. PMID 28712289
    4. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. Maio N, et al. Cell Metab, 2017 Apr 4. PMID 28380382
    5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. Li X, et al. Mol Cell Proteomics, 2016 Sep. PMID 27432908, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686O1788

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in inner mitochondrial membrane organization IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    metaxin-3

    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_001010891.5 → NP_001010891.4  metaxin-3 isoform 2

      See identical proteins and their annotated locations for NP_001010891.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' end compared to variant 3, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 3.
      Source sequence(s)
      AC112184, AK296864, BQ128103, DB456588
      Consensus CDS
      CCDS47239.2
      UniProtKB/Swiss-Prot
      Q5HYI7
      Related
      ENSP00000423302.1, ENST00000509852.6
      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 → 142
      Tom37; Outer mitochondrial membrane transport complex protein

    2. NM_001167741.2 → NP_001161213.1  metaxin-3 isoform 1

      See identical proteins and their annotated locations for NP_001161213.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3.
      Source sequence(s)
      AC112184, BQ128103, BX538064, DB456588
      Consensus CDS
      CCDS54872.1
      UniProtKB/Swiss-Prot
      Q5HYI7
      Related
      ENSP00000423600.1, ENST00000512560.5
      Conserved Domains (2) summary
      cd03212
      Location:44 → 180
      GST_C_Metaxin1_3; C-terminal, alpha helical domain of Metaxin 1, Metaxin 3, and similar proteins
      pfam10568
      Location:2 → 81
      Tom37; Outer mitochondrial membrane transport complex protein

    3. NM_001363818.2 → NP_001350747.1  metaxin-3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC112184
      Consensus CDS
      CCDS87308.1
      UniProtKB/Swiss-Prot
      B4DL65, E9PB57, Q5HYI7, Q7Z380, Q8NB92
      Related
      ENSP00000424798.2, ENST00000512528.3
      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 → 142
      Tom37; Outer mitochondrial membrane transport complex protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      79976716..79991262 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009440.2 → XP_016864929.1  metaxin-3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      80460567..80475113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352512.1 → XP_054208487.1  metaxin-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5HYI7.2 GenPept UniProtKB/Swiss-Prot:Q5HYI7

    Gene LinkOut

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

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