Details for: MDFI

Gene ID: 4188

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: MDFI

Ensembl ID: ENSG00000112559

Description: MyoD family inhibitor

Cell Significance Landscape

Associated with

Significant Cells

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

  • mesodermal cell CL0000222
    CSI 11.48
    rCSI 13.77%
    PRS 92.96
  • secretory cell CL0000151
    CSI 8.29
    rCSI 8.65%
    PRS 92.9
  • placental villous trophoblast CL2000060
    CSI 7.13
    rCSI 11.02%
    PRS 92.16
  • mesenchymal cell CL0008019
    CSI 6.63
    rCSI 16.83%
    PRS 90.03
  • stem cell CL0000034
    CSI 6.46
    rCSI 6.23%
    PRS 90.99
  • chondrocyte CL0000138
    CSI 6.39
    rCSI 10.16%
    PRS 90.3
  • myofibroblast cell CL0000186
    CSI 6.3
    rCSI 8.73%
    PRS 91.21
  • progenitor cell CL0011026
    CSI 5.87
    rCSI 12.49%
    PRS 88.08
  • fibroblast of lung CL0002553
    CSI 5.71
    rCSI 5.31%
    PRS 94.98
  • extravillous trophoblast CL0008036
    CSI 5.5
    rCSI 6.8%
    PRS 92.4
  • bronchus fibroblast of lung CL2000093
    CSI 5.5
    rCSI 4.47%
    PRS 93.28
  • neural crest cell CL0011012
    CSI 5.49
    rCSI 4.34%
    PRS 88.63
  • myeloid leukocyte CL0000766
    CSI 5.03
    rCSI 4.64%
    PRS 94.89
  • interstitial cell of Cajal CL0002088
    CSI 5
    rCSI 6.36%
    PRS 96.1
  • radial glial cell CL0000681
    CSI 4.97
    rCSI 6.91%
    PRS 92.34
  • neural progenitor cell CL0011020
    CSI 4.12
    rCSI 18.11%
    PRS 84.64
  • enteric smooth muscle cell CL0002504
    CSI 3.8
    rCSI 5.43%
    PRS 93.62
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 3.74
    rCSI 4.79%
    PRS 90.53
  • basal cell CL0000646
    CSI 3.58
    rCSI 4.79%
    PRS 91.29
  • epithelial cell of lung CL0000082
    CSI 3.56
    rCSI 2.95%
    PRS 94.72
  • respiratory hillock cell CL4030023
    CSI 3.38
    rCSI 6.02%
    PRS 96
  • respiratory suprabasal cell CL4033048
    CSI 2.79
    rCSI 3.58%
    PRS 94.79
  • glioblast CL0000030
    CSI 2.66
    rCSI 4.25%
    PRS 87.71
  • smooth muscle cell CL0000192
    CSI 2.53
    rCSI 6.04%
    PRS 88.75
  • club cell CL0000158
    CSI 2.5
    rCSI 3.67%
    PRS 90.37
  • cerebral cortex endothelial cell CL1001602
    CSI 2.45
    rCSI 4.23%
    PRS 89.95
  • syncytiotrophoblast cell CL0000525
    CSI 2.44
    rCSI 7.02%
    PRS 94.06
  • basal cell of epidermis CL0002187
    CSI 2.38
    rCSI 4.22%
    PRS 68.32
  • basal cell of prostate epithelium CL0002341
    CSI 2.15
    rCSI 6.23%
    PRS 95.28
  • stromal cell CL0000499
    CSI 1.98
    rCSI 5.58%
    PRS 90.68
  • peripheral nervous system neuron CL2000032
    CSI 1.98
    rCSI 2.7%
    PRS 88.55
  • epicardial adipocyte CL1000309
    CSI 1.86
    rCSI 6.04%
    PRS 91.48
  • forebrain radial glial cell CL0013000
    CSI 1.54
    rCSI 4.95%
    PRS 93.32
  • luminal cell of prostate epithelium CL0002340
    CSI 0.95
    rCSI 5.12%
    PRS 96.3
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 0.89
    rCSI 1.08%
    PRS 76.29
  • osteoblast CL0000062
    CSI 0.76
    rCSI 18.83%
    PRS 97.1
  • mesenchymal stem cell CL0000134
    CSI 0.44
    rCSI 4.86%
    PRS 94.95
  • epithelial cell of urethra CL1000296
    CSI 0.3
    rCSI 7.44%
    PRS 95.07
  • odontoblast CL0000060
    CSI 0.29
    rCSI 6.57%
    PRS 96.78

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.

Comma-separated if multiple.
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 [MDFI](/details-gene/4188) (MyoD Family Inhibitor) is a protein-coding gene located on human chromosome 6p21.1 ([Link](https://doi.org/10.1007/s003359900517)). Functionally, it acts as a transcriptional regulator, primarily known for its role in the negative regulation of transcription and Wnt signaling. Its expression profile suggests a critical role in developmental processes, with the highest significance observed in [mesodermal cell](/details-cell/CL0000222), [placental villous trophoblast](/details-cell/CL2000060), and various [stem cell](/details-cell/CL0000034) and [progenitor cell](/details-cell/CL0011026) populations. This pattern aligns with its molecular function as an inhibitor that can modulate cell fate decisions and differentiation pathways. ## Cellular Roles and Expression Landscape The expression landscape of [MDFI](/details-gene/4188) strongly points to a fundamental role in development, tissue morphogenesis, and cell lineage maintenance. **Overall**, the gene shows the highest significance in cell types associated with embryonic and extra-embryonic tissues. Its most prominent expression is in [mesodermal cell](/details-cell/CL0000222) (CSI: 11.48), indicating a key function in the development of tissues derived from this germ layer, such as muscle, bone, and connective tissue. This is further supported by high significance in more differentiated but related cell types, including [mesenchymal cell](/details-cell/CL0008019), [chondrocyte](/details-cell/CL0000138), [myofibroblast cell](/details-cell/CL0000186), and [fibroblast of lung](/details-cell/CL0002553). A second major functional hub for [MDFI](/details-gene/4188) is in placental development. The gene is a highly significant marker for both [placental villous trophoblast](/details-cell/CL2000060) and [extravillous trophoblast](/details-cell/CL0008036). This suggests its involvement in regulating trophoblast differentiation, a critical process for implantation and fetal-maternal exchange. The gene's consistent high significance in undifferentiated populations like [stem cell](/details-cell/CL0000034) and [progenitor cell](/details-cell/CL0011026) reinforces its role as a regulator of pluripotency and cell fate determination, likely by inhibiting transcription factors that drive terminal differentiation. ## Pathways and Molecular Function The functional annotations for [MDFI](/details-gene/4188) are highly consistent with its observed expression pattern, centering on its role as a transcriptional inhibitor. * **Transcriptional Regulation:** The primary molecular function is described as [transcription regulator inhibitor activity](/details-go/GO0140416). It achieves this through processes like [negative regulation of dna-templated transcription](/details-go/GO0045892) and [cytoplasmic sequestering of transcription factor](/details-go/GO0042994). This mechanism involves binding to transcription factors in the [cytoplasm](/details-go/GO0005737), preventing their translocation to the [nucleus](/details-go/GO0005634) and subsequent gene activation. * **Developmental Signaling:** [MDFI](/details-gene/4188) is implicated in the [negative regulation of wnt signaling pathway](/details-go/GO0030178), a crucial pathway governing embryonic development, cell proliferation, and differentiation. This role aligns with its high expression in various embryonic and progenitor cell types. It has also been shown to interact with components of the transcriptional machinery like T cyclins to modulate transcription ([Link](https://doi.org/10.1016/j.jmb.2007.01.020)). * **Morphogenesis:** The gene is associated with biological processes such as [dorsal/ventral axis specification](/details-go/GO0009950) and [embryonic skeletal system morphogenesis](/details-go/GO0048704), further cementing its importance in orchestrating developmental programs. ## Research Directions The available data highlights [MDFI](/details-gene/4188) as a key regulator in developmental contexts, particularly in mesenchymal and trophoblastic lineages. This profile opens several avenues for future investigation. **Testable Hypotheses:** 1. Given its high significance in [placental villous trophoblast](/details-cell/CL2000060) and its role in negatively regulating Wnt signaling, [MDFI](/details-gene/4188) is a critical gatekeeper of trophoblast differentiation, preventing premature or aberrant cell fate decisions during placentation. 2. Based on its expression in [mesenchymal cell](/details-cell/CL0008019), [chondrocyte](/details-cell/CL0000138), and [myofibroblast cell](/details-cell/CL0000186), [MDFI](/details-gene/4188) functions to maintain mesenchymal stem cell plasticity by inhibiting the MyoD family and other key transcription factors, and its downregulation is a prerequisite for terminal differentiation into muscle or cartilage. **Suggested Experimental Approach:** To test the first hypothesis regarding the role of [MDFI](/details-gene/4188) in trophoblast function, one could utilize a human trophoblast stem cell (hTSC) organoid model. CRISPR-Cas9-mediated knockout of [MDFI](/details-gene/4188) in hTSCs could be performed. The impact on differentiation into syncytiotrophoblasts and extravillous trophoblasts would be assessed by single-cell RNA sequencing (scRNA-seq) to map differentiation trajectories and identify dysregulated gene networks. Additionally, functional assays, such as transwell invasion assays on differentiated extravillous trophoblasts, would determine if loss of [MDFI](/details-gene/4188) affects their invasive properties, which are critical for proper placental implantation. **Therapeutic Potential:** As a transcriptional inhibitor involved in cell fate, [MDFI](/details-gene/4188) could be a potential therapeutic target in diseases of abnormal differentiation, such as cancer. In cancers derived from mesenchymal tissues (e.g., rhabdomyosarcoma), which are characterized by a failure to terminally differentiate, inhibiting [MDFI](/details-gene/4188) function could be a pro-differentiation strategy. By removing the 'brake' on differentiation, tumor cells could be forced into a more mature, less proliferative state. However, its crucial role in normal stem cell and progenitor populations suggests that systemic inhibition would carry a high risk of toxicity and off-target effects on tissue repair and homeostasis, necessitating highly targeted delivery systems.

Genular Protein ID: 4079489135

Symbol: MDFI_HUMAN

Name: MyoD family inhibitor

UniProtKB Accession Codes:

Q99750

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 11 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 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 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 2 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9250874

Title: The gene encoding I-mf (Mdfi) maps to human chromosome 6p21 and mouse chromosome 17.

PubMed ID: 9250874

DOI: 10.1007/s003359900517

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 17289077

Title: Developmental regulators containing the I-mfa domain interact with T cyclins and Tat and modulate transcription.

PubMed ID: 17289077

DOI: 10.1016/j.jmb.2007.01.020

Sequence Information:

  • Length: 246
  • Mass: 25029
  • Checksum: 9330E52141B79E5A
  • Sequence:
    • MYQVSGQRPS GCDAPYGAPS AAPGPAQTLS LLPGLEVVTG STHPAEAAPE EGSLEEAATP 
MPQGNGPGIP QGLDSTDLDV PTEAVTCQPQ GNPLGCTPLL PNDSGHPSEL GGTRRAGNGA 
LGGPKAHRKL QTHPSLASQG SKKSKSSSKS TTSQIPLQAQ EDCCVHCILS CLFCEFLTLC 
NIVLDCATCG SCSSEDSCLC CCCCGSGECA DCDLPCDLDC GILDACCESA DCLEICMECC 
GLCFSS

Genular Protein ID: 900218251

Symbol: B1AKB6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B1AKB6

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 2 SAM 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 185
  • Mass: 18935
  • Checksum: 392D994BDFA2CD70
  • Sequence:
    • MYQVSGQRPS GCDAPYGAPS AAPGPGQPQG NPLGCTPLLP NDSGHPSELG GTRRAGNGAL 
GGPKAHRKLQ THPSLASQGS KKSKSSSKST TSQIPLQAQE DCCVHCILSC LFCEFLTLCN 
IVLDCATCGS CSSEDSCLCC CCCGSGECAD CDLPCDLDCG ILDACCESAD CLEICMECCG 
LCFSS