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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
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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

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