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Aliases for MTX3 Gene

Aliases for MTX3 Gene

  • Metaxin 3 2 3 5
  • Metaxin-3 3

External Ids for MTX3 Gene

Previous GeneCards Identifiers for MTX3 Gene

  • GC05M079311
  • GC05M074480
  • GC05M079272

Summaries for MTX3 Gene

GeneCards Summary for MTX3 Gene

MTX3 (Metaxin 3) is a Protein Coding gene. An important paralog of this gene is MTX1.

UniProtKB/Swiss-Prot for MTX3 Gene

  • Could function in transport of proteins into the mitochondrion.

Additional gene information for MTX3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTX3 Gene

Genomics for MTX3 Gene

GeneHancer (GH) Regulatory Elements for MTX3 Gene

Promoters and enhancers for MTX3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I079989 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557 +0.3 299 2.1 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 KLF13 SP3 MTX3 THBS4 LINC01455
GH05I079511 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.5 +478.0 477965 4.2 MLX DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZNF610 HOMER1 PAPD4 MTX3 JMY GC05P079511
GH05I080251 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 12 -263.9 -263924 7.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 E2F8 GC05P080257 SERINC5 PAPD4 RPS3AP20 MTX3 ENSG00000251675 CTD-2201I18.1 THBS4 DHFR GC05P080258
GH05I079611 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.6 +378.4 378354 3.5 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 SP3 ZFP41 MEF2D ZNF610 PAPD4 RPS3AP20 MTX3 CRSP8P GC05M079620
GH05I080124 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -134.8 -134766 3.1 HDGF HDAC1 PKNOX1 SMAD1 BMI1 BATF IRF4 ZNF207 ZNF143 ATF7 ZFYVE16 MTX3 JMY SERINC5 FAM151B ENSG00000251675 GC05P080097
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTX3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTX3 gene promoter:

Genomic Locations for MTX3 Gene

Genomic Locations for MTX3 Gene
chr5:79,976,716-79,991,265
(GRCh38/hg38)
Size:
14,550 bases
Orientation:
Minus strand
chr5:79,272,539-79,287,088
(GRCh37/hg19)

Genomic View for MTX3 Gene

Genes around MTX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTX3 Gene

Proteins for MTX3 Gene

  • Protein details for MTX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5HYI7-MTX3_HUMAN
    Recommended name:
    Metaxin-3
    Protein Accession:
    Q5HYI7
    Secondary Accessions:
    • B4DL65
    • E9PB57
    • Q7Z380
    • Q8NB92

    Protein attributes for MTX3 Gene

    Size:
    312 amino acids
    Molecular mass:
    35093 Da
    Quaternary structure:
    • Part of a large protein complex spanning both mitochondrial membranes termed the mitochondrial intermembrane space bridging (MIB) complex.
    SequenceCaution:
    • Sequence=CAD97995.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTX3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTX3 Gene

Post-translational modifications for MTX3 Gene

  • Ubiquitination at isoforms=2, 4, 577

Other Protein References for MTX3 Gene

No data available for DME Specific Peptides for MTX3 Gene

Domains & Families for MTX3 Gene

Gene Families for MTX3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTX3 Gene

Suggested Antigen Peptide Sequences for MTX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5HYI7

UniProtKB/Swiss-Prot:

MTX3_HUMAN :
  • Belongs to the metaxin family.
Family:
  • Belongs to the metaxin family.
genes like me logo Genes that share domains with MTX3: view

Function for MTX3 Gene

Molecular function for MTX3 Gene

UniProtKB/Swiss-Prot Function:
Could function in transport of proteins into the mitochondrion.

Phenotypes for MTX3 Gene

GenomeRNAi human phenotypes for MTX3:
genes like me logo Genes that share phenotypes with MTX3: view

miRNA for MTX3 Gene

miRTarBase miRNAs that target MTX3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTX3 Gene

Localization for MTX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTX3 Gene

Mitochondrion. Mitochondrion outer membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTX3 gene
Compartment Confidence
mitochondrion 4
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MTX3: view

Pathways & Interactions for MTX3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion IEA --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MTX3: view

No data available for Pathways by source and SIGNOR curated interactions for MTX3 Gene

Drugs & Compounds for MTX3 Gene

No Compound Related Data Available

Transcripts for MTX3 Gene

Unigene Clusters for MTX3 Gene

Metaxin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTX3 Gene

No ASD Table

Relevant External Links for MTX3 Gene

GeneLoc Exon Structure for
MTX3
ECgene alternative splicing isoforms for
MTX3

Expression for MTX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTX3 Gene

Protein differential expression in normal tissues from HIPED for MTX3 Gene

This gene is overexpressed in Tlymphocyte (21.9), Monocytes (11.4), and Frontal cortex (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTX3 Gene



NURSA nuclear receptor signaling pathways regulating expression of MTX3 Gene:

MTX3

SOURCE GeneReport for Unigene cluster for MTX3 Gene:

Hs.531418

Evidence on tissue expression from TISSUES for MTX3 Gene

  • Eye(4.1)
  • Skin(4.1)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with MTX3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTX3 Gene

Orthologs for MTX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTX3 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia MTX3 33 34
  • 93.9 (n)
cow
(Bos Taurus)
Mammalia MTX3 33 34
  • 92.82 (n)
mouse
(Mus musculus)
Mammalia Mtx3 33 16 34
  • 87.19 (n)
rat
(Rattus norvegicus)
Mammalia Mtx3 33
  • 86.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTX3 34
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTX3 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTX3 33 34
  • 78.95 (n)
lizard
(Anolis carolinensis)
Reptilia MTX3 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtx3 33
  • 71.45 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100535564 33
  • 63.96 (n)
mtx3 34 34
  • 47 (a)
OneToMany
Dr.29098 33
fruit fly
(Drosophila melanogaster)
Insecta CG9393 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mtx-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.877 34
  • 24 (a)
OneToMany
Species where no ortholog for MTX3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTX3 Gene

ENSEMBL:
Gene Tree for MTX3 (if available)
TreeFam:
Gene Tree for MTX3 (if available)

Paralogs for MTX3 Gene

Paralogs for MTX3 Gene

(1) SIMAP similar genes for MTX3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for MTX3 Gene

genes like me logo Genes that share paralogs with MTX3: view

Variants for MTX3 Gene

Sequence variations from dbSNP and Humsavar for MTX3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000069361 -- 79,986,575(-) G/A intron_variant
rs1000540580 -- 79,979,166(-) A/G 3_prime_UTR_variant
rs1000644949 -- 79,979,957(-) G/A 3_prime_UTR_variant
rs1000920327 -- 79,991,994(-) C/T upstream_transcript_variant
rs1001312955 -- 79,977,931(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for MTX3 Gene

Variant ID Type Subtype PubMed ID
esv2763465 CNV loss 21179565
esv3605548 CNV loss 21293372
nsv1021113 CNV gain 25217958
nsv823106 CNV loss 20364138

Variation tolerance for MTX3 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.73; 73.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTX3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTX3 Gene

Disorders for MTX3 Gene

Additional Disease Information for MTX3

No disorders were found for MTX3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTX3 Gene

Publications for MTX3 Gene

  1. The zebrafish metaxin 3 gene (mtx3): cDNA and protein structure, and comparison to zebrafish metaxins 1 and 2. (PMID: 15087125) Adolph KW (Gene 2004) 2 3 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58
  5. Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex. (PMID: 26477565) Huynen MA … Brandt U (Biochimica et biophysica acta 2016) 4 58

Products for MTX3 Gene

Sources for MTX3 Gene

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