CARNS1: Carnosine Synthase 1
Gene encoding carnosine synthase, involved in histidine dipeptide biosynthesis
Gene Information Card
| Symbol | CARNS1 |
|---|---|
| Full Name | carnosine synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 57571 ncbi.nlm.nih.gov/gene/57571 |
| Ensembl ID | ENSG00000172575 |
| UniProt ID | Q96IZ0 |
| OMIM ID | 613368 |
| HGNC ID | 24276 |
| Aliases | ATP-grasp domain containing 1, ATG D1, FLJ20171, MGC138290 |
Description
CARNS1 (carnosine synthase 1) encodes an enzyme that catalyzes the formation of carnosine (beta-alanyl-L-histidine) and related histidine-containing dipeptides such as anserine and homocarnosine. The protein belongs to the ATP-grasp superfamily and requires ATP and magnesium for activity. Carnosine acts as a buffer, antioxidant, and anti-glycation agent in muscle and brain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnosinemia | Deficiency in carnosine degradation due to CNDP1 mutations; CARNS1 variants may alter carnosine levels | Limited evidence; not directly linked in ClinVar |
| Neurological disorders | Altered homocarnosine levels in brain; CARNS1 expression changes observed | Inferred from expression studies; no direct OMIM entry |
| Muscle atrophy | Reduced carnosine synthesis may impair pH buffering and antioxidant capacity | Hypothetical; based on physiological role |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 5.1 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.1 | Cervical cancer cell line |
| HEK293 | 1.5 | Embryonic kidney cells |
| SH-SY5Y | 3.4 | Neuroblastoma cell line |
| HepG2 | 0.9 | Hepatocellular carcinoma |
| C2C12 | 8.7 | Mouse myoblast cell line (ortholog) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | Rare (ExAC 0.0001) | Unknown functional impact |
| c.1573G>A (p.Gly525Arg) | Missense | Rare (gnomAD 0.0002) | Predicted damaging by SIFT |
| c.1862_1863del (p.Leu621fs) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Carnosine and anserine biosynthesis (Reactome: R-HSA-8878156)
• Histidine metabolism (KEGG: hsa00340)
Protein Summary
Carnosine synthase 1 is a 729-amino acid protein localized in the cytoplasm. It catalyzes the ATP-dependent ligation of beta-alanine and L-histidine to form carnosine, and can also synthesize anserine and homocarnosine. The enzyme is highly expressed in skeletal muscle and heart, where carnosine contributes to pH buffering and antioxidant defense. Structural studies reveal an ATP-grasp domain essential for catalytic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARNS1 Knockout HEK293 Cell Line | EDJ-KQ11988 | Human | 57571 | Details Get a Quote |
| CARNS1 Knockout HeLa Cell Line | EDJ-KQ56869 | Human | 57571 | Details Get a Quote |
| CARNS1 Knockout A-549 Cell Line | EDJ-KQ65383 | Human | 57571 | Details Get a Quote |
| CARNS1 Knockout HCT 116 Cell Line | EDJ-KQ73820 | Human | 57571 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
