Details for: MTX1

Gene ID: 4580

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MTX1

Ensembl ID: ENSG00000173171

Description: metaxin 1

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • ependymal cell CL0000065
    CSI 14.21
    rCSI 28.83%
    PRS 65.74
  • epithelial cell of lower respiratory tract CL0002632
    CSI 8.87
    rCSI 6.87%
    PRS 88.69
  • extravillous trophoblast CL0008036
    CSI 8.21
    rCSI 10.15%
    PRS 83.83
  • vascular associated smooth muscle cell CL0000359
    CSI 8.13
    rCSI 26.36%
    PRS 83.47
  • radial glial cell CL0000681
    CSI 6.66
    rCSI 9.25%
    PRS 83.73
  • group 3 innate lymphoid cell CL0001071
    CSI 6.29
    rCSI 4.73%
    PRS 90.12
  • fibroblast of lung CL0002553
    CSI 6.12
    rCSI 5.69%
    PRS 86.43
  • M cell of gut CL0000682
    CSI 5.45
    rCSI 5.79%
    PRS 88.72
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 4.85
    rCSI 4.38%
    PRS 84.09
  • secretory cell CL0000151
    CSI 4.83
    rCSI 5.04%
    PRS 84.69
  • pancreatic acinar cell CL0002064
    CSI 4.56
    rCSI 6.06%
    PRS 89.78
  • ciliated epithelial cell CL0000067
    CSI 4.54
    rCSI 3.99%
    PRS 75.7
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 4.32
    rCSI 10.38%
    PRS 94.72
  • fallopian tube secretory epithelial cell CL4030006
    CSI 3.76
    rCSI 3.62%
    PRS 84.57
  • mesenchymal cell CL0008019
    CSI 3.49
    rCSI 8.87%
    PRS 79.29
  • goblet cell CL0000160
    CSI 3.43
    rCSI 3.24%
    PRS 83.53
  • bronchus fibroblast of lung CL2000093
    CSI 3.38
    rCSI 2.75%
    PRS 84.83
  • epithelial cell of lung CL0000082
    CSI 3.37
    rCSI 2.79%
    PRS 86.47
  • type B pancreatic cell CL0000169
    CSI 3.35
    rCSI 7.43%
    PRS 85.22
  • interstitial cell of Cajal CL0002088
    CSI 3.15
    rCSI 4.01%
    PRS 89.75
  • granulocyte CL0000094
    CSI 3.06
    rCSI 4.68%
    PRS 91.1
  • neural crest cell CL0011012
    CSI 2.89
    rCSI 2.28%
    PRS 76.24
  • myofibroblast cell CL0000186
    CSI 2.85
    rCSI 3.94%
    PRS 81.9
  • early lymphoid progenitor CL0000936
    CSI 2.77
    rCSI 2.43%
    PRS 89.51
  • interneuron CL0000099
    CSI 2.76
    rCSI 5.54%
    PRS 77.56
  • hematopoietic stem cell CL0000037
    CSI 2.75
    rCSI 1.83%
    PRS 87.49
  • perivascular cell CL4033054
    CSI 2.72
    rCSI 3.72%
    PRS 89.24
  • mesodermal cell CL0000222
    CSI 2.69
    rCSI 3.23%
    PRS 83.7
  • pro-B cell CL0000826
    CSI 2.59
    rCSI 2.14%
    PRS 87.63
  • stem cell CL0000034
    CSI 2.58
    rCSI 2.49%
    PRS 80.27
  • ionocyte CL0005006
    CSI 2.56
    rCSI 2.75%
    PRS 87.46
  • lung ciliated cell CL1000271
    CSI 2.52
    rCSI 2.91%
    PRS 78.88
  • enteric smooth muscle cell CL0002504
    CSI 2.51
    rCSI 3.58%
    PRS 85.98
  • granulocyte monocyte progenitor cell CL0000557
    CSI 2.49
    rCSI 2.15%
    PRS 88.58
  • CD14-positive monocyte CL0001054
    CSI 2.47
    rCSI 3.07%
    PRS 92.64
  • rod bipolar cell CL0000751
    CSI 2.44
    rCSI 4.39%
    PRS 79.71
  • plasmablast CL0000980
    CSI 2.44
    rCSI 1.92%
    PRS 89.16
  • elicited macrophage CL0000861
    CSI 2.44
    rCSI 2.24%
    PRS 91.61
  • enteroendocrine cell CL0000164
    CSI 2.42
    rCSI 3.31%
    PRS 84.49
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 2.42
    rCSI 7.15%
    PRS 86.11
  • activated type II NK T cell CL0000931
    CSI 2.4
    rCSI 2.7%
    PRS 95.03
  • mucous neck cell CL0000651
    CSI 2.3
    rCSI 3.31%
    PRS 90.04
  • acinar cell CL0000622
    CSI 2.25
    rCSI 3.29%
    PRS 92.66
  • erythrocyte CL0000232
    CSI 2.18
    rCSI 4.95%
    PRS 84.87
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.17
    rCSI 1.52%
    PRS 88.88
  • common myeloid progenitor CL0000049
    CSI 2.12
    rCSI 1.72%
    PRS 87.41
  • multi-ciliated epithelial cell CL0005012
    CSI 2.07
    rCSI 2.07%
    PRS 79.76
  • duct epithelial cell CL0000068
    CSI 2.06
    rCSI 3.01%
    PRS 89.59
  • colon epithelial cell CL0011108
    CSI 2.03
    rCSI 2.13%
    PRS 82.98
  • myeloid leukocyte CL0000766
    CSI 2.03
    rCSI 1.87%
    PRS 86.66
  • intermediate monocyte CL0002393
    CSI 1.92
    rCSI 2.9%
    PRS 90.15
  • epithelial cell of proximal tubule CL0002306
    CSI 1.9
    rCSI 4.64%
    PRS 78.23
  • peripheral nervous system neuron CL2000032
    CSI 1.9
    rCSI 2.59%
    PRS 78.01
  • intestine goblet cell CL0019031
    CSI 1.88
    rCSI 1.67%
    PRS 83.03
  • lung macrophage CL1001603
    CSI 1.84
    rCSI 4.11%
    PRS 91.26
  • pancreatic ductal cell CL0002079
    CSI 1.83
    rCSI 3.56%
    PRS 88
  • ciliated cell CL0000064
    CSI 1.83
    rCSI 2.97%
    PRS 80.24
  • intestinal epithelial cell CL0002563
    CSI 1.77
    rCSI 1.85%
    PRS 82.98
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 1.69
    rCSI 2.22%
    PRS 93.54
  • common dendritic progenitor CL0001029
    CSI 1.62
    rCSI 2.03%
    PRS 91.98
  • primitive red blood cell CL0002355
    CSI 1.56
    rCSI 8.4%
    PRS 89.21
  • basal cell CL0000646
    CSI 1.56
    rCSI 2.08%
    PRS 83.18
  • syncytiotrophoblast cell CL0000525
    CSI 1.5
    rCSI 4.33%
    PRS 88.73
  • lung pericyte CL0009089
    CSI 1.5
    rCSI 3.97%
    PRS 90.55
  • club cell CL0000158
    CSI 1.46
    rCSI 2.15%
    PRS 80.46
  • promyelocyte CL0000836
    CSI 1.42
    rCSI 2.05%
    PRS 89.52
  • transit amplifying cell of colon CL0009011
    CSI 1.42
    rCSI 1.66%
    PRS 86.62
  • placental villous trophoblast CL2000060
    CSI 1.34
    rCSI 2.06%
    PRS 84.19
  • alveolar macrophage CL0000583
    CSI 1.29
    rCSI 2.12%
    PRS 88.54
  • paneth cell CL0000510
    CSI 1.26
    rCSI 1.86%
    PRS 92.71
  • promonocyte CL0000559
    CSI 1.22
    rCSI 2.08%
    PRS 89.54
  • mammary gland epithelial cell CL0002327
    CSI 1.14
    rCSI 4%
    PRS 91.12
  • bronchial goblet cell CL1000312
    CSI 0.95
    rCSI 3.8%
    PRS 90.49
  • deuterosomal cell CL4033044
    CSI 0.87
    rCSI 2.94%
    PRS 81.5
  • tracheobronchial serous cell CL0019001
    CSI 0.83
    rCSI 3.59%
    PRS 89.85
  • microcirculation associated smooth muscle cell CL0008035
    CSI 0.79
    rCSI 2.27%
    PRS 84.64
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 0.78
    rCSI 1.79%
    PRS 78.81
  • transit amplifying cell of small intestine CL0009012
    CSI 0.77
    rCSI 3.36%
    PRS 90.91
  • podocyte CL0000653
    CSI 0.76
    rCSI 3.36%
    PRS 86.19
  • myeloid lineage restricted progenitor cell CL0000839
    CSI 0.72
    rCSI 3.73%
    PRS 95.67
  • pancreatic stellate cell CL0002410
    CSI 0.57
    rCSI 3.31%
    PRS 87.83
  • pluripotent stem cell CL0002248
    CSI 0.31
    rCSI 9.31%
    PRS 92.46
  • respiratory goblet cell CL0002370
    CSI 0.25
    rCSI 2.73%
    PRS 90.59

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MTX1](/details-gene/4580) (metaxin 1) is a protein-coding gene located on chromosome 1q22. It encodes a component of the outer mitochondrial membrane essential for protein import and overall mitochondrial organization. Functional annotations link [MTX1](/details-gene/4580) to the SAM (sorting and assembly machinery) complex, which mediates the insertion of beta-barrel proteins into the outer mitochondrial membrane [Link](https://doi.org/10.1091/mbc.e11-09-0774). Expression data indicates its high significance in a diverse range of metabolically active and developing cell types, including [ependymal cell](/details-cell/CL0000065), various epithelial cells, and progenitor cells, underscoring its fundamental role in cellular bioenergetics and maintenance. ## Cellular Roles and Expression Landscape The expression profile of [MTX1](/details-gene/4580) highlights its importance in cells requiring robust mitochondrial function for energy production, secretion, or differentiation. **Overall**, the gene shows the highest significance in [ependymal cell](/details-cell/CL0000065) (CSI: 14.21), a specialized epithelial cell type lining the cerebral ventricles, suggesting a critical role in brain energy metabolism or cerebrospinal fluid production. High significance is also observed in other specialized epithelial and secretory cells, such as [epithelial cell of lower respiratory tract](/details-cell/CL0002632) (CSI: 8.87), [M cell of gut](/details-cell/CL0000682) (CSI: 5.45), and [pancreatic acinar cell](/details-cell/CL0002064) (CSI: 4.56). This pattern is consistent with its function in supporting the high metabolic demands associated with transport and protein secretion. Furthermore, [MTX1](/details-gene/4580) is a significant gene in several progenitor and developing cell populations. These include [extravillous trophoblast](/details-cell/CL0008036) (CSI: 8.21), which are crucial for placental development, as well as [radial glial cell](/details-cell/CL0000681) (CSI: 6.66), [megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050) (CSI: 4.85), and [hematopoietic multipotent progenitor cell](/details-cell/CL0000837) (CSI: 4.32). This suggests that the mitochondrial biogenesis supported by [MTX1](/details-gene/4580) is fundamental for cellular differentiation and tissue development. Its presence is also noted in structural cells like [vascular associated smooth muscle cell](/details-cell/CL0000359) (CSI: 8.13), indicating a broad housekeeping role in maintaining mitochondrial integrity across diverse tissues. ## Pathways and Molecular Function Functionally, [MTX1](/details-gene/4580) is integral to mitochondrial architecture and biogenesis. Gene Ontology annotations place it at the [mitochondrial outer membrane](/details-cell/GO:0005741) as a component of the [Sam complex](/details-cell/GO:0001401), where it participates in [protein insertion into mitochondrial outer membrane](/details-cell/GO:0045040). It has been shown to interact with MTX2, another protein of the mitochondrial outer membrane [Link](https://doi.org/10.1002/(sici)1097-4644(19990701)74:1<11::aid-jcb2>3.3.co;2-m). Consistent with these annotations, Reactome pathways highlight its role in [Mitochondrial protein import](/details-cell/R-HSA-1268020) and [Cristae formation](/details-cell/R-HSA-8949613). The proper import and assembly of mitochondrial proteins are essential for maintaining the organelle's structure and function, including the formation of cristae, which are the primary sites of oxidative phosphorylation. The association of [MTX1](/details-gene/4580) with pathways such as [Signaling by rho gtpases](/details-cell/R-HSA-194315) may also suggest a role in coordinating mitochondrial dynamics with the cellular cytoskeleton and other signaling cascades. ## Research Directions The widespread yet cell-type-specific significance of [MTX1](/details-gene/4580) suggests that its function is finely tuned to meet the metabolic demands of different cellular states. This provides a basis for several testable hypotheses. 1. **Hypothesis 1:** The high significance of [MTX1](/details-gene/4580) in hematopoietic progenitors ([megakaryocyte-erythroid progenitor cell](/details-cell/CL0000050), [hematopoietic multipotent progenitor cell](/details-cell/CL0000837)) indicates that its function in mitochondrial protein import is a rate-limiting factor for successful hematopoietic differentiation, a process known to involve significant metabolic reprogramming. 2. **Hypothesis 2:** Given its top ranking in [ependymal cell](/details-cell/CL0000065), [MTX1](/details-gene/4580) may play a specialized role in maintaining the integrity of the blood-cerebrospinal fluid barrier or supporting the ciliary motion essential for CSF circulation, both of which are energy-intensive processes. Disruption of [MTX1](/details-gene/4580) function in these cells could contribute to neurological disorders associated with impaired mitochondrial function. A key experiment to test the first hypothesis would be to use CRISPR-Cas9 to knock down or knock out [MTX1](/details-gene/4580) in primary human CD34+ hematopoietic stem and progenitor cells. Following gene editing, cells could be cultured in media that promotes differentiation towards the erythroid and myeloid lineages. The impact of [MTX1](/details-gene/4580) loss could be assessed by quantifying differentiation efficiency via flow cytometry for lineage-specific markers (e.g., CD71/CD235a for erythroid), measuring mitochondrial mass and membrane potential using dyes like MitoTracker and TMRM, and performing Seahorse assays to evaluate oxidative phosphorylation and glycolysis. Therapeutically, [MTX1](/details-gene/4580) is unlikely to be a suitable direct target for systemic inhibition due to its essential housekeeping role in mitochondrial biogenesis across numerous healthy tissues. Such an approach would likely result in significant on-target toxicity. However, understanding its role in the context of diseases characterized by mitochondrial dysfunction or metabolic reprogramming, such as cancer or certain neurodegenerative disorders, could reveal context-specific vulnerabilities that might be exploited by more targeted therapeutic strategies.

Genular Protein ID: 1191172913

Symbol: MTX1_HUMAN

Name: Metaxin-1

UniProtKB Accession Codes:

Q13505 A0A0A0MRK6 B1AVR9 B1AVS0 B2R9P4 Q9BUU3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 3 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 SFLD 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 2 TreeFam 1 UCSC 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8660965

Title: Structure and organization of the human metaxin gene (MTX) and pseudogene.

PubMed ID: 8660965

DOI: 10.1006/geno.1996.0181

PubMed ID: 9331372

Title: Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.

PubMed ID: 9331372

DOI: 10.1101/gr.7.10.1020

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10381257

Title: Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane.

PubMed ID: 10381257

DOI: 10.1002/(sici)1097-4644(19990701)74:1&lt;11::aid-jcb2&gt;3.3.co;2-m

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22114354

Title: MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.

PubMed ID: 22114354

DOI: 10.1091/mbc.e11-09-0774

PubMed ID: 25997101

Title: QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.

PubMed ID: 25997101

DOI: 10.7554/elife.06265

PubMed ID: 25621951

Title: USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.

PubMed ID: 25621951

DOI: 10.1038/ncb3097

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31644573

Title: Armadillo repeat-containing protein 1 is a dual localization protein associated with mitochondrial intermembrane space bridging complex.

PubMed ID: 31644573

DOI: 10.1371/journal.pone.0218303

Sequence Information:

  • Length: 466
  • Mass: 51463
  • Checksum: 2F98ABCA860F50E2
  • Sequence:
    • MLLGGPPRSP RSGTSPKGPW SSTGHVQFGK SPQTWPRRTR PRSPEPAAPS GVRGSTWTRR 
RDSPRRAGPT ALSRYVGHLW MGRRPPSPEA RGPVPRSSAA SRARRSLASP GISPGPLTAT 
IGGAVAGGGP RQGRAEAHKE VFPGQRVGKM AAPMELFCWS GGWGLPSVDL DSLAVLTYAR 
FTGAPLKVHK ISNPWQSPSG TLPALRTSHG EVISVPHKII THLRKEKYNA DYDLSARQGA 
DTLAFMSLLE EKLLPVLVHT FWIDTKNYVE VTRKWYAEAM PFPLNFFLPG RMQRQYMERL 
QLLTGEHRPE DEEELEKELY REARECLTLL SQRLGSQKFF FGDAPASLDA FVFSYLALLL 
QAKLPSGKLQ VHLRGLHNLC AYCTHILSLY FPWDGAEVPP QRQTPAGPET EEEPYRRRNQ 
ILSVLAGLAA MVGYALLSGI VSIQRATPAR APGTRTLGMA EEDEEE