Details for: MOB3C

Gene ID: 148932

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: MOB3C

Ensembl ID: ENSG00000142961

Description: MOB kinase activator 3C

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • megakaryocyte CL0000556
    CSI 1.87
    rCSI 8.13%
    PRS 99.45
  • platelet CL0000233
    CSI 1.39
    rCSI 5.76%
    PRS 99.22

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

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  • Node Color (Target Cell CSI, relative to current network):
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  • Node Size: Proportional to Target Cell CSI magnitude
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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 [MOB3C](/details-gene/148932), or MOB kinase activator 3C, is a protein-coding gene located on chromosome 1p33. As its name suggests, it functions as a protein kinase activator and is implicated in signal transduction pathways ([GO:0007165](https://www.ebi.ac.uk/QuickGO/term/GO:0007165), [GO:0030295](https://www.ebi.ac.uk/QuickGO/term/GO:0030295)). Expression data from the **Overall** biological context indicates that [MOB3C](/details-gene/148932) is a significant gene within the hematopoietic system, showing its highest relevance in [megakaryocytes](/details-cell/CL0000556) and their anucleate progeny, [platelets](/details-cell/CL0000233). This expression pattern suggests a specialized role in megakaryopoiesis and platelet function. The gene's existence and sequence were characterized as part of large-scale genome and cDNA sequencing efforts ([Link](https://doi.org/10.1038/nature04727), [Link](https://doi.org/10.1101/gr.2596504)). ## Cellular Roles and Expression Landscape The expression profile of [MOB3C](/details-gene/148932) points to a highly specific function within the megakaryocytic lineage. **Overall**, the gene exhibits its most significant expression in [megakaryocytes](/details-cell/CL0000556) (CSI: 1.87), the large bone marrow cells responsible for producing platelets, and in [platelets](/details-cell/CL0000233) themselves (CSI: 1.39). This strong association suggests that [MOB3C](/details-gene/148932) is likely involved in the terminal differentiation of [megakaryocytes](/details-cell/CL0000556) and may also play a crucial role in the physiological functions of circulating [platelets](/details-cell/CL0000233), such as hemostasis and thrombosis. The localized expression within this specific hematopoietic branch implies that its activity is tightly regulated and tailored to the unique signaling requirements of platelet biology. ## Pathways and Molecular Function Functionally, [MOB3C](/details-gene/148932) is annotated as a protein kinase activator ([GO:0030295](https://www.ebi.ac.uk/QuickGO/term/GO:0030295)) involved in signal transduction ([GO:0007165](https://www.ebi.ac.uk/QuickGO/term/GO:0007165)), with additional annotations for metal ion binding ([GO:0046872](https://www.ebi.ac.uk/QuickGO/term/GO:0046872)) and general protein binding ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). Its activity is localized to both the [cytoplasm](/details-cell/GO:0005737) and the [nucleus](/details-cell/GO:0005634), suggesting it may participate in signaling cascades that originate in the cytoplasm and culminate in transcriptional changes in the nucleus, a process critical for cell differentiation. This dual localization is consistent with a role in regulating the complex developmental program of [megakaryocytes](/details-cell/CL0000556). Furthermore, its function as a kinase activator is highly relevant for [platelets](/details-cell/CL0000233), which rely on rapid, phosphorylation-dependent signaling events to respond to vascular injury and initiate blood clotting. ## Research Directions The specific and significant expression of [MOB3C](/details-gene/148932) in the megakaryocyte-platelet lineage provides a foundation for several testable hypotheses regarding its role in health and disease. 1. **Hypothesis 1:** [MOB3C](/details-gene/148932) is a critical regulator of megakaryopoiesis. Its function as a kinase activator may be required for the terminal maturation, endomitosis, or proplatelet formation stages of [megakaryocytes](/details-cell/CL0000556). Dysregulation of [MOB3C](/details-gene/148932) could therefore contribute to quantitative platelet disorders such as thrombocytopenia (low platelet count) or thrombocythemia (high platelet count). 2. **Hypothesis 2:** In anucleate [platelets](/details-cell/CL0000233), [MOB3C](/details-gene/148932) participates in the signal transduction cascades that drive platelet activation. It may act downstream of receptors for agonists like thrombin or collagen to regulate key events such as shape change, granule secretion, and integrin activation, thereby modulating thrombus formation. **Experimental Approach:** To test the hypothesis that [MOB3C](/details-gene/148932) is essential for megakaryopoiesis, one could perform a loss-of-function study. This would involve using CRISPR-Cas9 to knock out [MOB3C](/details-gene/148932) in primary human CD34+ hematopoietic stem and progenitor cells. These modified cells would then be cultured *in vitro* under conditions that promote differentiation into the megakaryocyte lineage. The resulting cell populations would be analyzed by flow cytometry for key surface markers (e.g., CD41a, CD42b), by microscopy to assess proplatelet formation, and by cytological staining to measure cellular ploidy. A failure to mature or form proplatelets in the knockout cells compared to wild-type controls would confirm a critical role for [MOB3C](/details-gene/148932) in this process. **Therapeutic Potential:** Given its specific expression profile and function in platelet biology, [MOB3C](/details-gene/148932) may represent a novel therapeutic target for thromboembolic disorders. As a kinase activator, it is potentially druggable with small molecule inhibitors. If overactivity of [MOB3C](/details-gene/148932) is linked to platelet hyper-reactivity or thrombocythemia, developing a specific inhibitor could offer a new anti-platelet strategy with a potentially favorable safety profile due to its restricted expression. Therefore, **inhibition** of [MOB3C](/details-gene/148932) activity is the most likely therapeutic approach.

Genular Protein ID: 1976785660

Symbol: MOB3C_HUMAN

Name: MOB kinase activator 3C

UniProtKB Accession Codes:

Q70IA8 D3DQ22 Q0VA98 Q5TC10 Q5TC11 Q8NAZ2 Q8NF28

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 4 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 3 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 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 2 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

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: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 216
  • Mass: 25623
  • Checksum: C1FF52784622BAA4
  • Sequence:
    • MALCLKQVFA KDKTFRPRKR FEPGTQRFEL YKKAQASLKS GLDLRSVVRL PPGENIDDWI 
AVHVVDFFNR INLIYGTMAE RCSETSCPVM AGGPRYEYRW QDERQYRRPA KLSAPRYMAL 
LMDWIEGLIN DEEVFPTRVG VPFPKNFQQV CTKILTRLFR VFVHVYIHHF DSILSMGAEA 
HVNTCYKHFY YFIREFSLVD QRELEPLREM TERICH

Genular Protein ID: 391022024

Symbol: X6R3L3_HUMAN

Name: N/A

UniProtKB Accession Codes:

X6R3L3

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 2 KEGG 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 PhylomeDB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SMART 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16710414

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

PubMed ID: 16710414

DOI: 10.1038/nature04727

Sequence Information:

  • Length: 268
  • Mass: 31726
  • Checksum: 44A8C1F1BE544E2B
  • Sequence:
    • MKRRNLFALE TGVPPWGLLW VRSRRVGMDE MTFHIWYPQV RAPGQQPQAQ LAMALCLKQV 
FAKDKTFRPR KRFEPGTQRF ELYKKAQASL KSGLDLRSVV RLPPGENIDD WIAVHVVDFF 
NRINLIYGTM AERCSETSCP VMAGGPRYEY RWQDERQYRR PAKLSAPRYM ALLMDWIEGL 
INDEEVFPTR VGVPFPKNFQ QVCTKILTRL FRVFVHVYIH HFDSILSMGA EAHVNTCYKH 
FYYFIREFSL VDQRELEPLR EMTERICH