APCS (Serum Amyloid P Component)
A key pentraxin protein involved in amyloidosis, innate immunity, and complement regulation.
Gene Information Card
| Symbol | APCS |
|---|---|
| Full Name | Amyloid P component, serum |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 325 ncbi.nlm.nih.gov/gene/325 |
| Ensembl ID | ENSG00000132703 |
| UniProt ID | P02743 |
| OMIM ID | 104770 |
| HGNC ID | 584 |
| Aliases | SAP, PTX2, 9.5S alpha-1-glycoprotein |
Description
The APCS gene encodes serum amyloid P component (SAP), a member of the pentraxin family of proteins. SAP is a plasma glycoprotein that binds to amyloid fibrils, DNA, and chromatin, playing roles in innate immunity, complement activation, and clearance of cellular debris. It is a major constituent of amyloid deposits in systemic amyloidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic amyloidosis | SAP binds to amyloid fibrils, contributing to deposition and stabilization of amyloid plaques. | ClinVar, OMIM |
| Alzheimer disease | SAP is found in senile plaques and may promote amyloid-beta aggregation. | NCBI Gene, OMIM |
| Atherosclerosis | SAP accumulates in atherosclerotic lesions and modulates complement-mediated inflammation. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | nTPM: 112.5 | High |
| Adipose tissue | nTPM: 8.2 | Low |
| Lung | nTPM: 3.1 | Low |
| Heart | nTPM: 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | nTPM: 89.3 | Hepatocyte cell line, high expression |
| A549 | nTPM: 2.1 | Lung carcinoma, low expression |
| K-562 | nTPM: 0.8 | Myelogenous leukemia, not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199G>A (p.Gly67Arg) | missense | 0.01% | Unknown functional effect |
| c.404C>T (p.Thr135Met) | missense | 0.005% | May alter protein stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Serum amyloid P component (SAP) is a 25.5 kDa pentameric protein composed of five identical subunits. It is primarily synthesized in the liver and secreted into plasma. SAP binds to amyloid fibrils, DNA, and chromatin in a calcium-dependent manner, and is involved in the clearance of apoptotic cells and regulation of the complement system. It is a major component of amyloid deposits in systemic amyloidosis and is used as a diagnostic target for amyloid imaging.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APCS Knockout HEK293 Cell Line | EDJ-KQ3397 | Human | 325 | Details Get a Quote |
| APCS Knockout HeLa Cell Line | EDJ-KQ52627 | Human | 325 | Details Get a Quote |
| APCS Knockout A-549 Cell Line | EDJ-KQ61102 | Human | 325 | Details Get a Quote |
| APCS Knockout HCT 116 Cell Line | EDJ-KQ69589 | Human | 325 | Details Get a Quote |
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