CNDP1: Carnosine Dipeptidase 1
CNDP1 encodes a carnosine-hydrolyzing enzyme implicated in diabetic nephropathy and neurological function.
Gene Information Card
| Symbol | CNDP1 |
|---|---|
| Full Name | Carnosine Dipeptidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q22.3 |
| NCBI Gene ID | 8470 ncbi.nlm.nih.gov/gene/8470 |
| Ensembl ID | ENSG00000101473 |
| UniProt ID | Q96KN2 |
| OMIM ID | 609064 |
| HGNC ID | 2158 |
| Aliases | CN1, CPGL2, CNDP dipeptidase 1, carnosinase 1 |
Description
CNDP1 encodes a homodimeric zinc-dependent metallopeptidase that specifically hydrolyzes carnosine (β-alanyl-L-histidine) and other histidine-containing dipeptides. The enzyme is primarily expressed in the kidney, brain, and liver. CNDP1 plays a role in protecting against diabetic nephropathy by modulating carnosine levels, which act as an antioxidant and anti-glycation agent. Genetic variants in CNDP1 are associated with susceptibility to diabetic kidney disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic nephropathy | Reduced CNDP1 activity leads to lower carnosine degradation, increasing carnosine levels that protect against hyperglycemia-induced oxidative stress and advanced glycation end products. | OMIM 609064; multiple case-control studies |
| Carnosinase deficiency | Loss-of-function mutations in CNDP1 cause elevated urinary and serum carnosine, associated with neurological symptoms. | OMIM 212200; case reports |
| Chronic kidney disease | CNDP1 polymorphisms (e.g., rs2346061) are linked to progression of renal impairment in type 2 diabetes. | ClinVar; GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 45.2 | High |
| Brain | 22.8 | Medium |
| Liver | 18.5 | Medium |
| Heart | 6.3 | Low |
| Skeletal muscle | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HepG2 | 8.7 | Low expression |
| SH-SY5Y | 15.1 | Moderate expression |
| HK-2 | 38.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Cys) | Missense | 0.02% (gnomAD) | Reduced enzymatic activity; associated with diabetic nephropathy risk |
| c.431G>A (p.Arg144Gln) | Missense | 0.01% (gnomAD) | Loss of function; linked to carnosinase deficiency |
| c.544C>T (p.Arg182Trp) | Missense | 0.005% (gnomAD) | Decreased carnosine hydrolysis; reported in neurological phenotypes |
Mutation functional classification
Loss of Function (LOF)
p.Arg144Gln and p.Arg182Trp reduce or abolish dipeptidase activity, leading to elevated carnosine levels.
Gain of Function (GOF)
No gain-of-function mutations reported in CNDP1.
Dominant Negative (DN)
No dominant-negative mutations described for CNDP1.
View complete mutation data：
Gene Ontology (GO)
| • dipeptidase activity (GO:0016805) | • zinc ion binding (GO:0008270) |
| • proteolysis (GO:0006508) | • cytoplasm (GO:0005737) |
| • extracellular space (GO:0005615) |
Pathways
• ['Carnosine metabolism'
• 'Reactome R-HSA-2408508']
• ['Histidine metabolism'
• 'KEGG hsa00340']
• ['Dipeptide hydrolysis'
• 'UniProt pathway']
Protein Summary
CNDP1 (carnosine dipeptidase 1) is a 490-amino acid homodimeric zinc metallopeptidase that hydrolyzes carnosine and other histidine-containing dipeptides. The protein is secreted into serum and urine. It contains a conserved zinc-binding motif (HEXXH) essential for catalytic activity. CNDP1 is implicated in diabetic nephropathy protection through regulation of carnosine levels, which scavenge reactive carbonyl species and inhibit protein glycation. Structural studies show a two-domain architecture with a catalytic domain and a dimerization domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNDP1 Knockout HEK293 Cell Line | EDJ-KQ10186 | Human | 84735 | Details Get a Quote |
| CNDP1 Knockout HeLa Cell Line | EDJ-KQ57657 | Human | 84735 | Details Get a Quote |
| CNDP1 Knockout A-549 Cell Line | EDJ-KQ66156 | Human | 84735 | Details Get a Quote |
| CNDP1 Knockout HCT 116 Cell Line | EDJ-KQ74583 | Human | 84735 | Details Get a Quote |
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