Details for: R3HCC1

Gene ID: 203069

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: R3HCC1

Ensembl ID: ENSG00000104679

Description: R3H domain and coiled-coil containing 1

Cell Significance Landscape

Associated with

Significant Cells

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

  • vascular associated smooth muscle cell CL0000359
    CSI 9.03
    rCSI 29.29%
    PRS 87.25
  • type B pancreatic cell CL0000169
    CSI 5.94
    rCSI 13.16%
    PRS 89.07
  • neural progenitor cell CL0011020
    CSI 5.56
    rCSI 24.48%
    PRS 78.46
  • dendritic cell, human CL0001056
    CSI 5.07
    rCSI 7.78%
    PRS 94.67
  • lung ciliated cell CL1000271
    CSI 4.98
    rCSI 5.76%
    PRS 83.37
  • fibroblast of lung CL0002553
    CSI 4.56
    rCSI 4.24%
    PRS 90.34
  • rod bipolar cell CL0000751
    CSI 4.42
    rCSI 7.95%
    PRS 83.89
  • effector CD8-positive, alpha-beta T cell CL0001050
    CSI 4.4
    rCSI 3.35%
    PRS 97.14
  • interneuron CL0000099
    CSI 4.38
    rCSI 8.79%
    PRS 82.56
  • double negative thymocyte CL0002489
    CSI 4.25
    rCSI 2.95%
    PRS 96.54
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.85
    rCSI 2.69%
    PRS 92.22
  • plasmablast CL0000980
    CSI 3.57
    rCSI 2.81%
    PRS 91.7
  • secretory cell CL0000151
    CSI 3.49
    rCSI 3.64%
    PRS 88.1
  • perivascular cell CL4033054
    CSI 3.45
    rCSI 4.72%
    PRS 92.32
  • pancreatic D cell CL0000173
    CSI 3.44
    rCSI 3.38%
    PRS 90.89
  • mesodermal cell CL0000222
    CSI 3.28
    rCSI 3.94%
    PRS 87.86
  • retinal cone cell CL0000573
    CSI 3.24
    rCSI 5.21%
    PRS 81.12
  • immature B cell CL0000816
    CSI 2.91
    rCSI 2.16%
    PRS 95.43
  • neural crest cell CL0011012
    CSI 2.9
    rCSI 2.29%
    PRS 81.49
  • stromal cell CL0000499
    CSI 2.87
    rCSI 8.07%
    PRS 85.12
  • ON-bipolar cell CL0000749
    CSI 2.84
    rCSI 4.23%
    PRS 88.13
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 2.76
    rCSI 8.14%
    PRS 89.49
  • early lymphoid progenitor CL0000936
    CSI 2.71
    rCSI 2.38%
    PRS 92.55
  • hematopoietic stem cell CL0000037
    CSI 2.69
    rCSI 1.79%
    PRS 90.84
  • stem cell CL0000034
    CSI 2.68
    rCSI 2.59%
    PRS 84.73
  • epithelial cell of lung CL0000082
    CSI 2.65
    rCSI 2.19%
    PRS 89.97
  • interstitial cell of Cajal CL0002088
    CSI 2.63
    rCSI 3.35%
    PRS 92.93
  • pancreatic A cell CL0000171
    CSI 2.53
    rCSI 2.65%
    PRS 91.2
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 2.48
    rCSI 4.37%
    PRS 74.74
  • ciliated cell CL0000064
    CSI 2.39
    rCSI 3.87%
    PRS 83.56
  • pancreatic acinar cell CL0002064
    CSI 2.25
    rCSI 2.99%
    PRS 92.24
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.2
    rCSI 2.83%
    PRS 85.76
  • multi-ciliated epithelial cell CL0005012
    CSI 2.2
    rCSI 2.2%
    PRS 83.51
  • myeloid leukocyte CL0000766
    CSI 2.16
    rCSI 1.99%
    PRS 90.23
  • retina horizontal cell CL0000745
    CSI 2.14
    rCSI 3.26%
    PRS 86.03
  • bronchus fibroblast of lung CL2000093
    CSI 2.13
    rCSI 1.73%
    PRS 88.46
  • retinal rod cell CL0000604
    CSI 2.09
    rCSI 3.68%
    PRS 85
  • ciliated epithelial cell CL0000067
    CSI 2.03
    rCSI 1.79%
    PRS 80.31
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 2.01
    rCSI 2.32%
    PRS 81.99
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 2.01
    rCSI 10.09%
    PRS 96.34
  • CD4-positive, alpha-beta cytotoxic T cell CL0000934
    CSI 1.99
    rCSI 2.74%
    PRS 97.4
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.97
    rCSI 1.78%
    PRS 88.04
  • intermediate monocyte CL0002393
    CSI 1.95
    rCSI 2.95%
    PRS 93.1
  • common myeloid progenitor CL0000049
    CSI 1.94
    rCSI 1.57%
    PRS 90.65
  • enteroendocrine cell CL0000164
    CSI 1.93
    rCSI 2.64%
    PRS 87.83
  • enteric smooth muscle cell CL0002504
    CSI 1.88
    rCSI 2.69%
    PRS 89.47
  • club cell CL0000158
    CSI 1.81
    rCSI 2.66%
    PRS 84.41
  • radial glial cell CL0000681
    CSI 1.8
    rCSI 2.49%
    PRS 87.68
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.76
    rCSI 5.51%
    PRS 76.63
  • granulocyte monocyte progenitor cell CL0000557
    CSI 1.74
    rCSI 1.51%
    PRS 91.4
  • OFF-bipolar cell CL0000750
    CSI 1.71
    rCSI 2.34%
    PRS 88.28
  • basal cell CL0000646
    CSI 1.68
    rCSI 2.25%
    PRS 86.5
  • peripheral nervous system neuron CL2000032
    CSI 1.67
    rCSI 2.28%
    PRS 82.52
  • pulmonary artery endothelial cell CL1001568
    CSI 1.65
    rCSI 2.25%
    PRS 93.99
  • glioblast CL0000030
    CSI 1.63
    rCSI 2.6%
    PRS 81.56
  • progenitor cell CL0011026
    CSI 1.61
    rCSI 3.43%
    PRS 83.26
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.61
    rCSI 2.83%
    PRS 92.1
  • lung macrophage CL1001603
    CSI 1.49
    rCSI 3.32%
    PRS 93.58
  • mesenchymal cell CL0008019
    CSI 1.22
    rCSI 3.09%
    PRS 83.94
  • lung pericyte CL0009089
    CSI 1.16
    rCSI 3.06%
    PRS 93.19
  • podocyte CL0000653
    CSI 0.89
    rCSI 3.96%
    PRS 89.7
  • eye photoreceptor cell CL0000287
    CSI 0.85
    rCSI 9.55%
    PRS 92.2
  • microcirculation associated smooth muscle cell CL0008035
    CSI 0.82
    rCSI 2.37%
    PRS 88.26
  • forebrain radial glial cell CL0013000
    CSI 0.81
    rCSI 2.61%
    PRS 89.1
  • erythroid progenitor cell CL0000038
    CSI 0.41
    rCSI 2.34%
    PRS 91.56
  • Cajal-Retzius cell CL0000695
    CSI 0.41
    rCSI 3.19%
    PRS 91.16

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 [R3HCC1](/details-gene/203069) (R3H domain and coiled-coil containing 1) is a protein-coding gene located on human chromosome 8p21.3. The protein product contains an R3H domain, which is associated with nucleic acid binding capabilities. Consistent with this structure, its primary annotated molecular function is [nucleic acid binding](/details-go/GO:0003676). Expression data reveals a broad but significant role across a diverse array of cell types, with particularly high significance in [vascular associated smooth muscle cells](/details-cell/CL0000359), pancreatic endocrine cells, various neural cells, and multiple lineages of the immune system. This suggests [R3HCC1](/details-gene/203069) may be involved in a fundamental regulatory process common to these functionally distinct cell populations. ## Cellular Roles and Expression Landscape The expression profile of [R3HCC1](/details-gene/203069) suggests it is a functionally important gene in multiple, seemingly disparate biological systems rather than a marker for a single cell lineage. **Overall**, the gene shows its highest significance (CSI: 9.03) in [vascular associated smooth muscle cells](/details-cell/CL0000359), pointing to a potential role in maintaining vascular tone or structure. Its expression is also prominent in endocrine and secretory tissues, as evidenced by its high scores in [type B pancreatic cells](/details-cell/CL0000169) and [secretory cells](/details-cell/CL0000151). Furthermore, [R3HCC1](/details-gene/203069) appears to be active within the nervous system, with significant expression in both developing cells like [neural progenitor cells](/details-cell/CL0011020) and mature, specialized cells such as [rod bipolar cells](/details-cell/CL0000751) and [interneurons](/details-cell/CL0000099). A notable pattern also emerges within the immune system, where the gene is significantly expressed across both innate and adaptive lineages. This includes antigen-presenting cells like [dendritic cells, human](/details-cell/CL0001056), cytotoxic lymphocytes such as [effector CD8-positive, alpha-beta T cells](/details-cell/CL0001050), developing T-cells like [double negative thymocytes](/details-cell/CL0002489), and antibody-producing [plasmablasts](/details-cell/CL0000980). This broad immune footprint suggests a role in a shared immunological mechanism, possibly related to cellular activation or differentiation. ## Pathways and Molecular Function The functional annotation for [R3HCC1](/details-gene/203069) is currently limited, with the most well-defined role being in [nucleic acid binding](/details-go/GO:0003676). This function is consistent with its R3H domain, which is known to bind single-stranded nucleic acids. This activity likely underpins its widespread importance across various cell types. It may function as a transcriptional regulator, an RNA-binding protein involved in post-transcriptional processing, or a component of ribonucleoprotein complexes. Its specific targets and the downstream consequences of its binding activity in cells like [vascular associated smooth muscle cells](/details-cell/CL0000359) or [effector CD8-positive, alpha-beta T cells](/details-cell/CL0001050) remain to be elucidated. ## Research Directions The broad expression profile of [R3HCC1](/details-gene/203069) across critical cell types, combined with its fundamental molecular function, presents several avenues for future investigation. **Testable Hypotheses:** 1. Given its top significance in [vascular associated smooth muscle cells](/details-cell/CL0000359), [R3HCC1](/details-gene/203069) may act as a key regulator of the smooth muscle cell phenotype. We hypothesize that it binds to specific mRNAs or regulatory RNAs to maintain the contractile state, and its downregulation could contribute to the pathological phenotypic switching seen in atherosclerosis or hypertension. 2. The high significance in both [neural progenitor cells](/details-cell/CL0011020) and mature [interneurons](/details-cell/CL0000099) suggests [R3HCC1](/details-gene/203069) plays a role in neuronal development and function. It is hypothesized that [R3HCC1](/details-gene/203069) regulates the expression of genes essential for neuronal differentiation and, subsequently, for maintaining synaptic plasticity in the adult brain. 3. The gene's consistent expression across diverse immune cell types, including [dendritic cells, human](/details-cell/CL0001056) and [effector CD8-positive, alpha-beta T cells](/details-cell/CL0001050), suggests it may regulate a core transcriptional program common to immune activation. A plausible hypothesis is that [R3HCC1](/details-gene/203069) is involved in regulating the stability or translation of mRNAs encoding key cytokines or inflammatory mediators. **Proposed Experimental Approach:** To test the hypothesis regarding its role in vascular smooth muscle cells (Hypothesis 1), a targeted knockdown of [R3HCC1](/details-gene/203069) could be performed in primary human aortic smooth muscle cells using CRISPRi or shRNA. The effect on cell phenotype would be assessed by quantifying the expression of contractile markers (e.g., *ACTA2*, *MYH11*) versus synthetic markers (e.g., *COL1A1*, *MMP2*) using RNA-seq and Western blotting. Functional consequences could be measured with a collagen gel contraction assay to directly test the impact on the cells' contractile capacity. **Therapeutic Potential:** The widespread expression of [R3HCC1](/details-gene/203069) in many essential cell types, including vascular, pancreatic, neural, and immune cells, makes it a challenging therapeutic target. Systemic inhibition or activation would likely lead to significant off-target effects. Therefore, any therapeutic strategy targeting [R3HCC1](/details-gene/203069) would require a highly specific, cell-type-targeted delivery mechanism. Without data linking its dysregulation to a specific disease, it is currently difficult to determine whether inhibition or activation would be the desired therapeutic approach.

Genular Protein ID: 4197206320

Symbol: R3HC1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

Sequence Information:

  • Length: 440
  • Mass: 49092
  • Checksum: C035A7E2E3F957C5
  • Sequence:
  • MALLCLDGVF LSSAENDFVH RIQEELDRFL LQKQLSKVLL FPPLSSRLRY LIHRTAENFD 
    LLSSFSVGEG WKRRTVICHQ DIRVPSSDGL SGPCRAPASC PSRYHGPRPI SNQGAAAVPR 
    GARAGRWYRG RKPDQPLYVP RVLRRQEEWG LTSTSVLKRE APAGRDPEEP GDVGAGDPNS 
    DQGLPVLMTQ GTEDLKGPGQ RCENEPLLDP VGPEPLGPES QSGKGDMVEM ATRFGSTLQL 
    DLEKGKESLL EKRLVAEEEE DEEEVEEDGP SSCSEDDYSE LLQEITDNLT KKEIQIEKIH 
    LDTSSFVEEL PGEKDLAHVV EIYDFEPALK TEDLLATFSE FQEKGFRIQW VDDTHALGIF 
    PCLASAAEAL TREFSVLKIR PLTQGTKQSK LKALQRPKLL RLVKERPQTN ATVARRLVAR 
    ALGLQHKKKE RPAVRGPLPP