Human Gene MTX1 (ENST00000368376.8_6) from GENCODE V47lift37
  Description: metaxin 1, transcript variant 1 (from RefSeq NM_002455.5)
Gencode Transcript: ENST00000368376.8_6
Gencode Gene: ENSG00000173171.15_10
Transcript (Including UTRs)
   Position: hg19 chr1:155,178,486-155,183,614 Size: 5,129 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr1:155,178,596-155,183,489 Size: 4,894 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:155,178,486-155,183,614)mRNA (may differ from genome)Protein (466 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MTX1_HUMAN
DESCRIPTION: RecName: Full=Metaxin-1; AltName: Full=Mitochondrial outer membrane import complex protein 1;
FUNCTION: Involved in transport of proteins into the mitochondrion. Essential for embryonic development (By similarity).
SUBUNIT: Interacts with MTX2/metaxin-2. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential). Mitochondrion outer membrane (By similarity).
SIMILARITY: Belongs to the metaxin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MTX1
Diseases sorted by gene-association score: gaucher's disease (12)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 57.40 RPKM in Testis
Total median expression: 589.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.10110-0.328 Picture PostScript Text
3' UTR -31.80125-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010987 - Glutathione-S-Trfase_C-like
IPR019564 - Tom37/metaxin

Pfam Domains:
PF10568 - Outer mitochondrial membrane transport complex protein
PF17171 - Glutathione S-transferase, C-terminal domain
PF17172 - Glutathione S-transferase N-terminal domain

SCOP Domains:
47616 - GST C-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q13505
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006626 protein targeting to mitochondrion
GO:0015031 protein transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF206177 - JP 2014500723-A/13680: Polycomb-Associated Non-Coding RNAs.
MA441754 - JP 2018138019-A/13680: Polycomb-Associated Non-Coding RNAs.
KJ901584 - Synthetic construct Homo sapiens clone ccsbBroadEn_10978 MTX1 gene, encodes complete protein.
BC036919 - Homo sapiens cDNA clone IMAGE:5200075.
AK313863 - Homo sapiens cDNA, FLJ94496, Homo sapiens metaxin 1 (MTX1), mRNA.
BC001906 - Homo sapiens metaxin 1, mRNA (cDNA clone MGC:2518 IMAGE:3546178), complete cds.
BC035616 - Homo sapiens metaxin 1, mRNA (cDNA clone IMAGE:5166115), with apparent retained intron.
AX775989 - Sequence 259 from Patent WO03048202.
LF352198 - JP 2014500723-A/159701: Polycomb-Associated Non-Coding RNAs.
DQ786325 - Homo sapiens clone HLS_IMAGE_878406 mRNA sequence.
JD543686 - Sequence 524710 from Patent EP1572962.
JD394589 - Sequence 375613 from Patent EP1572962.
MA587775 - JP 2018138019-A/159701: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13505 (Reactome details) participates in the following event(s):

R-HSA-1268025 SAM50 complex inserts proteins into mitochondrial outer membrane
R-HSA-8949613 Cristae formation
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1268020 Mitochondrial protein import
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MRK6, B1AVR9, B1AVS0, B2R9P4, ENST00000368376.1, ENST00000368376.2, ENST00000368376.3, ENST00000368376.4, ENST00000368376.5, ENST00000368376.6, ENST00000368376.7, MTX, MTX1_HUMAN, MTXN, NM_002455, Q13505, Q9BUU3, uc318gsd.1, uc318gsd.2
UCSC ID: ENST00000368376.8_6
RefSeq Accession: NM_002455.5
Protein: Q13505 (aka MTX1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.