Details for: CLUL1

Gene ID: 27098

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: CLUL1

Ensembl ID: ENSG00000079101

Description: clusterin like 1

Cell Significance Landscape

Associated with

Significant Cells

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

  • retinal rod cell CL0000604
    CSI 4.1
    rCSI 7.23%
    PRS 98.33
  • rod bipolar cell CL0000751
    CSI 3.32
    rCSI 5.97%
    PRS 98.45
  • retinal pigment epithelial cell CL0002586
    CSI 2.44
    rCSI 4.85%
    PRS 98.7
  • Cajal-Retzius cell CL0000695
    CSI 0.78
    rCSI 6.07%
    PRS 99.35

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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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 [CLUL1](/details-gene/27098) (Clusterin-like protein 1) is a protein-coding gene located on chromosome 18p11.32. Functionally, it is associated with binding to misfolded proteins ([GO:0051787](https://www.ebi.ac.uk/QuickGO/term/GO:0051787)) and is found in both the nucleus ([GO:0005634](https://www.ebi.ac.uk/QuickGO/term/GO:0005634)) and the extracellular space ([GO:0005615](https://www.ebi.ac.uk/QuickGO/term/GO:0005615)). Expression data indicates that [CLUL1](/details-gene/27098) is a highly specialized gene, showing prominent and specific significance in cell types of the vertebrate retina. Its role as a potential chaperone-like protein in a tissue with high metabolic turnover suggests a critical function in maintaining retinal homeostasis. ## Cellular Roles and Expression Landscape The expression profile of [CLUL1](/details-gene/27098) demonstrates a striking specificity for retinal cells. **Overall**, the gene shows the highest significance in [retinal rod cell](/details-cell/CL0000604) (CSI: 4.10), the primary photoreceptors responsible for scotopic vision. Its significance is also high in associated cell types within the retinal circuitry, including [rod bipolar cell](/details-cell/CL0000751) (CSI: 3.32) and the supportive [retinal pigment epithelial cell](/details-cell/CL0002586) (CSI: 2.44), underscoring a key role in the rod photoreceptor pathway and its maintenance. While one study identified [CLUL1](/details-gene/27098) as a cone photoreceptor-specific gene ([Link](https://doi.org/10.1167/iovs.02-1202)), the provided expression data points more strongly towards its importance in rod-dominant cell types. This suggests its function may be crucial for multiple types of photoreceptors or that its expression is dynamically regulated across different species or developmental stages. Minor but notable significance in [Cajal-Retzius cell](/details-cell/CL0000695) (CSI: 0.78) may indicate a broader, albeit less prominent, role in neuronal cell populations. The highly restricted expression pattern strongly implies a specialized function in vision and retinal health. ## Pathways and Molecular Function The known molecular function of [CLUL1](/details-gene/27098) is primarily annotated as 'misfolded protein binding' ([GO:0051787](https://www.ebi.ac.uk/QuickGO/term/GO:0051787)). This function is particularly relevant in the context of photoreceptor cells, which are metabolically active and exposed to constant photo-oxidative stress, a condition that increases the risk of protein damage and aggregation. The dual localization of the protein to the nucleus ([GO:0005634](https://www.ebi.ac.uk/QuickGO/term/GO:0005634)) and the extracellular space ([GO:0005615](https://www.ebi.ac.uk/QuickGO/term/GO:0005615)) suggests it may employ a multi-compartmental strategy to maintain protein quality control. Intracellularly, it could function as a nuclear chaperone, while extracellularly, it may help clear aggregated proteins from the subretinal space, a critical interface between photoreceptors and the retinal pigment epithelium. ## Research Directions Given the gene's specific expression in retinal cells and its putative role in managing proteotoxic stress, research should focus on its potential involvement in inherited retinal diseases (IRDs). The high metabolic demand and light exposure of photoreceptors make them particularly vulnerable to protein misfolding, a hallmark of many degenerative conditions like retinitis pigmentosa. **Proposed Hypotheses:** 1. Loss-of-function mutations in [CLUL1](/details-gene/27098) may lead to the accumulation of misfolded proteins in [retinal rod cell](/details-cell/CL0000604), triggering cellular stress and apoptosis, thereby contributing to the pathology of retinal degeneration. 2. Extracellular [CLUL1](/details-gene/27098) may function as a protective signaling molecule within the subretinal space, and its dysregulation could impair the supportive function of [retinal pigment epithelial cell](/details-cell/CL0002586), indirectly causing photoreceptor death. **Key Experimental Approach:** To test the first hypothesis, a *Clul1* knockout mouse model could be generated. The retinal health of these animals would be monitored over time using non-invasive techniques like electroretinography (ERG) to assess photoreceptor function and optical coherence tomography (OCT) for structural analysis. Histological examination of retinal cross-sections, combined with immunohistochemistry for markers of protein aggregation (e.g., ubiquitin) and apoptosis (e.g., TUNEL staining), would be used to determine if the absence of [CLUL1](/details-gene/27098) leads to a progressive degenerative phenotype, particularly under conditions of light-induced stress. **Therapeutic Potential:** The high tissue specificity of [CLUL1](/details-gene/27098) makes it an attractive candidate for therapeutic intervention in retinal diseases. If its deficiency is confirmed to be pathogenic, a gene augmentation strategy would be the most direct approach. Subretinal delivery of a functional [CLUL1](/details-gene/27098) gene using an adeno-associated virus (AAV) vector, a well-established method for retinal gene therapy, could potentially restore protein function and halt or slow disease progression in patients with mutations in this gene.

Genular Protein ID: 1277431016

Symbol: CLUL1_HUMAN

Name: Clusterin-like protein 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14507903

Title: Comparative analysis and expression of CLUL1, a cone photoreceptor-specific gene.

PubMed ID: 14507903

DOI: 10.1167/iovs.02-1202

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: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

Sequence Information:

  • Length: 466
  • Mass: 54215
  • Checksum: 41A603D0FD6439C4
  • Sequence:
  • MKPPLLVFIV CLLWLKDSHC APTWKDKTAI SENLKSFSEV GEIDADEEVK KALTGIKQMK 
    IMMERKEKEH TNLMSTLKKC REEKQEALKL LNEVQEHLEE EERLCRESLA DSWGECRSCL 
    ENNCMRIYTT CQPSWSSVKN KIERFFRKIY QFLFPFHEDN EKDLPISEKL IEEDAQLTQM 
    EDVFSQLTVD VNSLFNRSFN VFRQMQQEFD QTFQSHFISD TDLTEPYFFP AFSKEPMTKA 
    DLEQCWDIPN FFQLFCNFSV SIYESVSETI TKMLKAIEDL PKQDKAPDHG GLISKMLPGQ 
    DRGLCGELDQ NLSRCFKFHE KCQKCQAHLS EDCPDVPALH TELDEAIRLV NVSNQQYGQI 
    LQMTRKHLED TAYLVEKMRG QFGWVSELAN QAPETEIIFN SIQVVPRIHE GNISKQDETM 
    MTDLSILPSS NFTLKIPLEE SAESSNFIGY VVAKALQHFK EHFKTW

Genular Protein ID: 3752226661

Symbol: B7Z5R4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 518
  • Mass: 60135
  • Checksum: 6351284B46D00C25
  • Sequence:
  • MRTWDYRWSL ALVAQTGVHC CDLSSLQPLP PRFKRFSCLS LSSGWDYSNS GNMKPPLLVF 
    IVCLLWLKDS HCAPTWKDKT AISENLKSFS EVGEIDADEE VKKALTGIKQ MKIMMERKEK 
    EHTNLMSTLK KCREEKQEAL KLLNEVQEHL EEEERLCRES LADSWGECRS CLENNCMRIY 
    TTCQPSWSSV KNKIERFFRK IYQFLFPFHE DNEKDLPISE KLIEEDAQLT QMEDVFSQLT 
    VDVNSLFNRS FNVFRQMQQE FDQTFQSHFI SDTDLTEPYF FPAFSKEPMT KADLEQCWDI 
    PNFFQLFCNF SVSIYESVSE TITKMLKAIE DLPKQDKAPD HGGLISKMLP GQDRGLCGEL 
    DQNLSRCFKF HEKCQKCQAH LSEDCPDVPA LHTELDEAIR LVNVSNQQYG QILQMTRKHL 
    EDTAYLVEKM RGQFGWVSEL ANQAPETEII FNSIQVVPRI HEGNISKQDE TMMTDLSILP 
    SSNFTLKIPL EESAESSNFI GYVVAKALQH FKEHFKTW

Genular Protein ID: 2306086754

Symbol: F5GWQ8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16177791

Title: DNA sequence and analysis of human chromosome 18.

PubMed ID: 16177791

DOI: 10.1038/nature03983

Sequence Information:

  • Length: 518
  • Mass: 60135
  • Checksum: C1289326F00B6193
  • Sequence:
  • MRTWDYRWSL ALVAQTGVHC CNLSSLQPLP PRFKRFSCLS LSSGWDYSNS GNMKPPLLVF 
    IVCLLWLKDS HCAPTWKDKT AISENLKSFS EVGEIDADEE VKKALTGIKQ MKIMMERKEK 
    EHTNLMSTLK KCREEKQEAL KLLNEVQEHL EEEERLCRES LADSWGECRS CLENNCMRIY 
    TTCQPSWSSV KNKIERFFRK IYQFLFPFHE DNEKDLPISE KLIEEDAQLT QMEDVFSQLT 
    VDVNSLFNRS FNVFRQMQQE FDQTFQSHFI SDTDLTEPYF FPAFSKEPMT KADLEQCWDI 
    PNFFQLFCNF SVSIYESVSE TITKMLKAIE DLPKQDKAPD HGGLISKMLP GQDRGLCGEL 
    DQNLSRCFKF HEKCQKCQAH LSEDCPDVPA LHTELDEAIR LVNVSNQQYG QILQMTRKHL 
    EDTAYLVEKM RGQFGWVSEL ANQAPETEII FNSIQVVPRI HEGNISKQDE TMMTDLSILP 
    SSNFTLKIPL EESAESSNFI GYVVAKALQH FKEHFKTW