COL25A1
Collagen Type XXV Alpha 1 Chain
Gene Information Card
| Symbol | COL25A1 |
|---|---|
| Full Name | Collagen Type XXV Alpha 1 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 84570 ncbi.nlm.nih.gov/gene/84570 |
| Ensembl ID | ENSG00000188517 |
| UniProt ID | Q9BXS0 |
| OMIM ID | 608004 |
| HGNC ID | 24003 |
| Aliases | CLAC-P, CLAC, CLACP, collagen-like Alzheimer amyloid plaque component precursor |
Description
COL25A1 (Collagen Type XXV Alpha 1 Chain) is a protein-coding gene located on chromosome 4q25. It encodes a transmembrane collagen that is a component of Alzheimer disease amyloid plaques. The protein is primarily expressed in neurons and functions in cell adhesion and amyloid-beta aggregation. Mutations in COL25A1 have been associated with Alzheimer disease and other neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer Disease | COL25A1 protein (CLAC) binds to amyloid-beta fibrils and promotes plaque formation | PMID: 15528209 |
| Cerebral Amyloid Angiopathy | Collagen XXV deposition in cerebrovascular amyloid | PMID: 15528209 |
| Neurodegenerative Disorders | Altered COL25A1 expression linked to tau pathology | PMID: 21947079 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 3.1 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal expression |
| U-87 MG (glioblastoma) | 8.7 | Glial expression |
| HEK293 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Cys) | Missense | 0.01% | Altered amyloid binding |
| c.1543G>A (p.Gly515Ser) | Missense | 0.005% | Reduced collagen stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce collagen XXV secretion and amyloid plaque binding.
Gain of Function (GOF)
Gain-of-function mutations enhance amyloid-beta aggregation.
Dominant Negative (DN)
Dominant-negative effects may disrupt collagen trimer formation.
View complete mutation data：
Gene Ontology (GO)
| • proteinaceous extracellular matrix (GO:0005578) | • collagen trimer (GO:0005581) |
| • cell adhesion (GO:0007155) | • extracellular matrix organization (GO:0030198) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Alzheimer disease pathway (KEGG: hsa05010)
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Collagen type XXV alpha 1 chain (COL25A1) is a 654-amino acid transmembrane collagen with a collagenous domain and a C-terminal non-collagenous domain. It is synthesized as a precursor (CLAC-P) and processed to form the mature CLAC protein, which is deposited in Alzheimer disease amyloid plaques. The protein binds to amyloid-beta fibrils and may modulate plaque formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL25A1 Knockout HEK293 Cell Line | EDJ-KQ2023 | Human | 84570 | Details Get a Quote |
| COL25A1 Knockout HeLa Cell Line | EDJ-KQ22053 | Human | 84570 | Details Get a Quote |
| COL25A1 Knockout A-549 Cell Line | EDJ-KQ66113 | Human | 84570 | Details Get a Quote |
| COL25A1 Knockout HCT 116 Cell Line | EDJ-KQ74535 | Human | 84570 | Details Get a Quote |
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