CARTPT Gene - Cocaine and Amphetamine Regulated Transcript
Neuropeptide precursor involved in energy homeostasis, reward, and stress response
Gene Information Card
| Symbol | CARTPT |
|---|---|
| Full Name | CART prepropeptide |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 9607 ncbi.nlm.nih.gov/gene/9607 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q16568 |
| OMIM ID | 602606 |
| HGNC ID | 24323 |
| Aliases | CART, MGC11681 |
Description
The CARTPT gene encodes the cocaine- and amphetamine-regulated transcript (CART) prepropeptide, which is processed into multiple bioactive neuropeptides. CART peptides are widely expressed in the central and peripheral nervous systems and are involved in regulating feeding behavior, energy balance, reward, stress, and neuroendocrine signaling. Dysregulation of CARTPT has been implicated in obesity, eating disorders, addiction, and psychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Reduced CART expression or function disrupts hypothalamic appetite regulation, leading to hyperphagia and weight gain. | OMIM #602606; PMID: 10644436 |
| Anorexia Nervosa | Altered CART levels in cerebrospinal fluid and hypothalamus may contribute to restricted eating and body weight dysregulation. | PMID: 10882873 |
| Substance Use Disorders | CART modulates dopamine signaling in the nucleus accumbens; altered expression affects reward processing and addiction vulnerability. | PMID: 12037517 |
| Depression | CART expression changes in limbic regions are associated with depressive-like behaviors in animal models. | PMID: 16919409 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hypothalamus | 45.2 | High |
| Pituitary | 38.7 | High |
| Adrenal gland | 22.1 | Medium |
| Pancreas | 15.3 | Medium |
| Cerebral cortex | 12.8 | Medium |
| Stomach | 8.4 | Low |
| Testis | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.5 | Neuronal model; high CART expression |
| SK-N-SH (neuroblastoma) | 28.1 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.3 | Low expression |
| MCF7 (breast cancer) | 1.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Ala72Thr) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.347C>T (p.Pro116Leu) | Missense | <0.01% | Potential loss of function; reported in obesity cohorts |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Predicted loss of translation initiation; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense or start-loss variants that reduce CART peptide production or receptor binding, leading to impaired appetite suppression and increased obesity risk.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in CARTPT.
Dominant Negative (DN)
No evidence for dominant-negative effects; CARTPT is not known to form multimeric complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuropeptide signaling pathway (Reactome: R-HSA-375276)
• Regulation of appetite (KEGG: hsa04930)
• Cocaine addiction (KEGG: hsa05030)
• Amphetamine addiction (KEGG: hsa05031)
Protein Summary
The CART prepropeptide (UniProt Q16568) is a 116-amino-acid precursor that is proteolytically cleaved into active neuropeptides, including CART (55-102) and CART (62-102). These peptides act as endogenous ligands for G-protein-coupled receptors (likely GPR160) to modulate neuronal excitability, dopamine release, and energy homeostasis. CART is highly conserved across vertebrates and is a key regulator of feeding, stress, and reward.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CARTPT Knockout HEK293 Cell Line | EDJ-KQ6655 | Human | 9607 | Details Get a Quote |
| CARTPT Knockout HeLa Cell Line | EDJ-KQ55205 | Human | 9607 | Details Get a Quote |
| CARTPT Knockout A-549 Cell Line | EDJ-KQ63688 | Human | 9607 | Details Get a Quote |
| CARTPT Knockout HCT 116 Cell Line | EDJ-KQ72150 | Human | 9607 | Details Get a Quote |
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