CLUL1: Clusterin Like 1 – A Retinal-Specific Protein
Comprehensive genomic and proteomic analysis of CLUL1, a gene encoding a secreted protein with potential roles in retinal function and disease.
Gene Information Card
| Symbol | CLUL1 |
|---|---|
| Full Name | clusterin like 1 |
| Gene Type | protein coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 27098 ncbi.nlm.nih.gov/gene/27098 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q15846 |
| OMIM ID | 616415 |
| HGNC ID | 2097 |
| Aliases | CLUL1, CLU1, CLUL1A, CLUL1B |
Description
CLUL1 (clusterin like 1) is a protein-coding gene located on chromosome 18p11.32. The encoded protein shares sequence similarity with clusterin, a secreted chaperone involved in lipid transport and cell survival. CLUL1 is predominantly expressed in the retina, particularly in photoreceptor cells, and is thought to play a role in retinal homeostasis. Mutations in CLUL1 have been associated with retinal degenerative diseases, including retinitis pigmentosa and cone-rod dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss-of-function mutations in CLUL1 disrupt photoreceptor survival and function | ClinVar, OMIM |
| Cone-rod dystrophy | Missense variants impair protein secretion or chaperone activity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 45.2 | High |
| Testis | 3.1 | Low |
| Brain | 1.5 | Low |
| Heart | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 12.4 | Moderate expression |
| Y79 (retinoblastoma) | 8.7 | Moderate expression |
| HEK293 | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired protein secretion; associated with cone-rod dystrophy |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with retinal degeneration.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CLUL1.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance pattern is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • protein-containing complex (GO:0032991) | • identical protein binding (GO:0042802) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Retinoid metabolism and transport
• Protein folding and chaperone activity
Protein Summary
The CLUL1 protein is a secreted chaperone-like molecule predominantly expressed in the retina. It shares structural homology with clusterin and is involved in extracellular protein homeostasis, particularly in photoreceptor cells. The protein is synthesized as a precursor that undergoes proteolytic cleavage and glycosylation. Its function is critical for maintaining retinal integrity, and loss of CLUL1 leads to photoreceptor degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLUL1 Knockout HEK293 Cell Line | EDJ-KQ7939 | Human | 27098 | Details Get a Quote |
| CLUL1 Knockout HeLa Cell Line | EDJ-KQ55999 | Human | 27098 | Details Get a Quote |
| CLUL1 Knockout A-549 Cell Line | EDJ-KQ64487 | Human | 27098 | Details Get a Quote |
| CLUL1 Knockout HCT 116 Cell Line | EDJ-KQ72944 | Human | 27098 | Details Get a Quote |
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