Details for: CNBD1

Gene ID: 168975

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: CNBD1

Ensembl ID: ENSG00000176571

Description: cyclic nucleotide binding domain containing 1

Cell Significance Landscape

Significant Cells

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

  • retinal pigment epithelial cell CL0002586
    CSI 4.55
    rCSI 9.03%
    PRS 99.83
  • rod bipolar cell CL0000751
    CSI 4.08
    rCSI 7.32%
    PRS 99.91
  • retinal cone cell CL0000573
    CSI 3.12
    rCSI 5.01%
    PRS 99.63

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.

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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 [CNBD1](/details-gene/168975) (cyclic nucleotide binding domain containing 1) is a protein-coding gene located on chromosome 8q21.3. As its name implies, the protein contains a cyclic nucleotide-binding domain, suggesting a role in cellular signaling pathways mediated by second messengers like cAMP or cGMP. Its full-length cDNA was identified and characterized as part of the Mammalian Gene Collection project [Link](https://doi.org/10.1038/ng1285), [Link](https://doi.org/10.1101/gr.2596504). Expression data from the **Overall** biological context reveals that [CNBD1](/details-gene/168975) is a highly specific marker for cell types within the retina, including [retinal pigment epithelial cell](/details-cell/CL0002586), [rod bipolar cell](/details-cell/CL0000751), and [retinal cone cell](/details-cell/CL0000573). This restricted expression pattern strongly points towards a specialized function in visual processing and retinal physiology. ## Cellular Roles and Expression Landscape The expression profile of [CNBD1](/details-gene/168975) is characterized by its remarkable specificity for the eye. **Overall**, the gene exhibits its highest significance scores in a triad of functionally related retinal cells. It is most prominent in the [retinal pigment epithelial cell](/details-cell/CL0002586) (CSI: 4.55), a cell layer essential for supporting photoreceptor function, followed by the [rod bipolar cell](/details-cell/CL0000751) (CSI: 4.08), an interneuron that transmits signals from rod photoreceptors. Its significant presence is also noted in [retinal cone cell](/details-cell/CL0000573) (CSI: 3.12), the photoreceptors responsible for color and high-acuity vision. This co-expression in photoreceptors, associated interneurons, and supportive epithelial cells suggests that [CNBD1](/details-gene/168975) is a key component of the retinal cellular network, likely contributing to the core processes of phototransduction or the maintenance of retinal health. ## Pathways and Molecular Function While detailed functional annotations are not provided, the molecular identity of [CNBD1](/details-gene/168975) as a cyclic nucleotide-binding protein, combined with its specific localization in the retina, strongly implicates it in visual signal transduction. Cyclic GMP (cGMP) is a critical second messenger in photoreceptors, where its hydrolysis in response to light leads to the closure of cGMP-gated ion channels and cellular hyperpolarization. The presence of [CNBD1](/details-gene/168975) in [retinal cone cell](/details-cell/CL0000573) and its signaling partners like the [rod bipolar cell](/details-cell/CL0000751) suggests it may act as a sensor or modulator of cGMP/cAMP levels, potentially influencing the sensitivity, adaptation, or signal transmission of the visual cascade. Its high significance in the [retinal pigment epithelial cell](/details-cell/CL0002586) could indicate a role in cyclic nucleotide-mediated processes that support the RPE, such as the visual cycle or phagocytosis of photoreceptor outer segments. ## Research Directions The highly specific expression of [CNBD1](/details-gene/168975) within the retina makes it a compelling subject for vision research, particularly concerning retinal health and disease. **Proposed Hypotheses:** 1. [CNBD1](/details-gene/168975) functions as a regulatory component of the phototransduction cascade within photoreceptors ([retinal cone cell](/details-cell/CL0000573)), possibly by modulating the activity of cyclic nucleotide-gated channels or phosphodiesterases, thereby shaping the light response. 2. In [retinal pigment epithelial cell](/details-cell/CL0002586), [CNBD1](/details-gene/168975) mediates a cAMP/cGMP-dependent signaling pathway that regulates the phagocytosis of shed photoreceptor outer segments, a process vital for long-term retinal maintenance. **Experimental Approach:** To test the hypothesis that [CNBD1](/details-gene/168975) is involved in phototransduction (Hypothesis 1), a conditional knockout mouse model could be generated where [CNBD1](/details-gene/168975) is specifically deleted in photoreceptor cells. The retinal function of these mice could then be assessed using electroretinography (ERG), which measures the electrical responses of retinal cells to light stimuli. A comparison of ERG waveforms between knockout and wild-type mice under various light conditions would reveal any defects in the amplitude, timing, or adaptation of the photoreceptor light response, providing direct evidence for its role in the visual signaling pathway. **Therapeutic Potential:** Given its highly restricted expression in the retina, [CNBD1](/details-gene/168975) presents a potentially attractive target for treating retinal diseases with minimal off-target effects. If loss-of-function mutations in [CNBD1](/details-gene/168975) are identified as a cause of inherited retinal dystrophies, it would be an excellent candidate for AAV-mediated gene replacement therapy, a strategy that has proven successful for other monogenic retinal disorders. Conversely, if its overexpression or dysregulation contributes to retinal pathology, developing small molecule inhibitors or antisense oligonucleotides to modulate its activity could represent a viable therapeutic approach.

Genular Protein ID: 3167146682

Symbol: CNBD1_HUMAN

Name: Cyclic nucleotide-binding domain-containing protein 1

UniProtKB Accession Codes:

Q8NA66

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 CarbonylDB 1 ChEBI 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 436
  • Mass: 50224
  • Checksum: 16ABA68561881EA1
  • Sequence:
    • MPMSSLPAAI LSHMTAINNV PPPPLHSIPN LKKSKHINYG QLNALCHIRG QHSRSMSNIL 
SAHDTFMKQY PKVFLHQKPR LPKLFKQEEQ RELNEGKEES QHQQPDDSNN IAVHVQRAHG 
GHILYRPKRA TEKFEEFLAI LKKLPIHRTP YEHKTVWKFL KTIPDLTFQL NDKHLKTLSK 
TVFSETWLKG STVVANDGFY VILKGLARPQ TNVYKNLIEG SDSPDSFISQ SFHSFIWSEE 
FKNSTLAEMY LPSYDSMLSK WSTFGTLEVM PQNESETQMF SVVTEDDCEI LKIPAKGYAK 
IKEEKIKLEN MQKLKLIRMC PYYEEWPTLS IYELIALLKW KKFPPGHVIV ESGNIISFVG 
YINSGCCNIY RSIIGFVKLR SNKVKRSQKL VYMGKLKEKE SFGEISVLLQ VPFTCTIITK 
KEVEMAIIED KDLFVA