Details for: DRICH1

Gene ID: 51233

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: DRICH1

Ensembl ID: ENSG00000189269

Description: aspartate rich 1

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • epithelial cell of proximal tubule CL0002306
    CSI 2.93
    rCSI 7.16%
    PRS 99.77
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 1.08
    rCSI 4.07%
    PRS 99.81

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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    • High
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    • CSI N/A
  • 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 [DRICH1](/details-gene/51233) (aspartate rich 1) is a protein-coding gene located on human chromosome 22q11.23. The gene was cataloged as part of large-scale genomics projects aimed at sequencing the human genome and developing a comprehensive resource of full-length cDNA clones ([Link](https://doi.org/10.1038/990031), [Link](https://doi.org/10.1101/gr.2596504), [Link](https://doi.org/10.1186/gb-2004-5-10-r84)). While its precise biological role is not well-defined, functional annotation suggests it is involved in protein binding. Expression data indicates a highly specific role, with its most significant expression observed in the [epithelial cell of proximal tubule](/details-cell/CL0002306) in the kidney and in a subset of cortical neurons, suggesting specialized functions within these distinct cellular contexts. ## Cellular Roles and Expression Landscape The expression profile of [DRICH1](/details-gene/51233) points towards a specialized function in metabolically active and complex signaling cells. **Overall**, the gene's most significant expression is found in the [epithelial cell of proximal tubule](/details-cell/CL0002306) (CSI: 2.93), which is responsible for the bulk of solute reabsorption in the kidney. This high significance suggests [DRICH1](/details-gene/51233) may be a key component of the molecular machinery governing transport or metabolic processes in this cell type. Additionally, [DRICH1](/details-gene/51233) shows significant expression in the [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012) (CSI: 1.08). This indicates a potential, albeit less pronounced, role in the central nervous system, possibly related to synaptic function or neuronal maintenance in this specific neuronal subtype. The expression in two such functionally distinct cell types—one involved in epithelial transport and the other in neurotransmission—suggests that [DRICH1](/details-gene/51233) may participate in fundamental cellular processes that are particularly important in these highly specialized cells. ## Pathways and Molecular Function The known molecular function of the protein encoded by [DRICH1](/details-gene/51233) is limited to **protein binding** ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)). This general annotation is consistent with a role as a scaffold, adapter, or regulatory protein that assembles or modulates protein complexes. In the context of the [epithelial cell of proximal tubule](/details-cell/CL0002306), this function could be related to the organization of ion transporters, channels, or metabolic enzymes at the apical or basolateral membranes. In [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012), its protein-binding capability might be leveraged to organize synaptic protein complexes or participate in intracellular signaling cascades. Further research is required to identify its specific binding partners and elucidate its role in any larger biological pathways. ## Research Directions The highly specific expression pattern of [DRICH1](/details-gene/51233) in renal and neural tissues, coupled with its uncharacterized function, presents several avenues for future investigation. ### Proposed Hypotheses 1. **Hypothesis 1:** Given its high significance in [epithelial cell of proximal tubule](/details-cell/CL0002306) and its protein-binding function, [DRICH1](/details-gene/51233) acts as a scaffolding protein that organizes and stabilizes multiprotein complexes essential for solute reabsorption or endocytosis at the brush border. 2. **Hypothesis 2:** In [near-projecting glutamatergic cortical neuron](/details-cell/CL4023012), [DRICH1](/details-gene/51233) is involved in synaptic plasticity by modulating the localization or activity of postsynaptic density proteins through direct or indirect protein interactions. ### Suggested Experimental Approach To test the hypothesis regarding its role in renal physiology (Hypothesis 1), a multi-pronged approach could be employed. * **Experiment:** Generate a knockout of [DRICH1](/details-gene/51233) in a human kidney proximal tubule cell line (e.g., HK-2) using CRISPR-Cas9. * **Analysis:** * Perform co-immunoprecipitation using an antibody against DRICH1 followed by mass spectrometry (Co-IP/MS) in wild-type cells to identify its interacting protein partners, which may include known ion transporters or regulatory proteins. * Assess the functional consequences of the knockout on tubular transport by measuring the uptake of key solutes (e.g., glucose, amino acids, phosphate) and the rate of receptor-mediated endocytosis (e.g., of albumin). * Use immunofluorescence microscopy to determine if the subcellular localization of key transport proteins is altered in the knockout cells. ### Therapeutic Potential The therapeutic potential of [DRICH1](/details-gene/51233) is currently undefined due to the lack of information linking it to any specific pathology. Its high expression in essential cell types like kidney proximal tubule cells and neurons suggests that systemically targeting it could carry a high risk of on-target toxicity. However, if future studies implicate [DRICH1](/details-gene/51233) in diseases specific to these tissues, such as certain genetic nephropathies or neurodegenerative disorders, it could become a candidate for targeted therapies. For instance, if its overexpression contributes to renal fibrosis or neuronal excitotoxicity, developing inhibitors (e.g., small molecules or antisense oligonucleotides) could be a viable strategy. Conversely, if its loss-of-function is disease-causing, gene replacement therapy might be considered.

Genular Protein ID: 4068942635

Symbol: DRIC1_HUMAN

Name: Aspartate-rich protein 1

UniProtKB Accession Codes:

Q6PGQ1 Q6ICJ8 Q6P4I3 Q9NU31

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 EMBL 4 Ensembl 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

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: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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

Sequence Information:

  • Length: 229
  • Mass: 25064
  • Checksum: BB7B6F201690A1F2
  • Sequence:
    • MGNILTCCIN SHCGWPRGKD APCYESDTDI YETVAAATSE STTVEPGKLD VGATEGQDLQ 
HISNQKMPTG PPEDRLSLKF LPSSEEDNDD AKILPSPVQG SSEDNLSLVC LPRSEDDDCD 
DDDDDDAQIL PSRVQGGCYR FDSSSCSSED NLSLVCLPRS EDDDCDDDDD DAQILPSPVQ 
ACSEDSLFLR CSLRHKDEEE EDDDDIHITA RIESDLTLES LSDEEIHPG