Gene:
CPS1
carbamoyl-phosphate synthase 1, mitochondrial
PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.
Annotated Labels
- Annotation of FDA Label for sodium phenylbutyrate and ASS1,CPS1,OTC
- Annotation of FDA Label for valproic acid and ABL2,ASL,ASS1,CPS1,NAGS,OTC,POLG
- Annotation of FDA Label for phenylacetic acid,sodium benzoate and ARG1,ASL,ASS1,CPS1,NAGS,OTC
- Annotation of EMA Label for sodium phenylbutyrate and ASS1,CPS1,OTC
- Annotation of PMDA Label for valproic acid and CPS1,OTC
- Annotation of HCSC Label for sodium phenylbutyrate and ASS1,CPS1,OTC
1. Annotation of FDA Label for sodium phenylbutyrate and ASS1,CPS1,OTC
Summary
BUPHENYL(sodium phenylbutyrate) is indicated as adjunctive therapy in the chronic management of patients with urea cycle disorders involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS).
There's more of this label. Read more.
2. Annotation of FDA Label for valproic acid and ABL2,ASL,ASS1,CPS1,NAGS,OTC,POLG
Summary
Valproic acid is used to treat patients with various types of seizures. The FDA-approved drug label for valproic acid notes that it is contraindicated in patients with known urea cycle disorders (UCDs), a group of uncommon genetic abnormalities, since these patients can sometimes experience fatal hyperammonemic encephalopathy following initiation of treatment. It is also contraindicated in patients with POLG mutations. However, the label does not explicitly mention testing for genetic mutations leading to UCDs or POLG mutations prior to valproic acid treatment.
There's more of this label. Read more.
3. Annotation of FDA Label for phenylacetic acid,sodium benzoate and ARG1,ASL,ASS1,CPS1,NAGS,OTC
Summary
Sodium phenylacetate and sodium benzoate provides an alternate vehicle to urea for waste nitrogen excretion in patients with urea cycle disorders. Urea cycle disorders may be caused by mutations in the genes NAGS, CPS1, OTC, ASS1, ASL and ARG1.
There's more of this label. Read more.
4. Annotation of EMA Label for sodium phenylbutyrate and ASS1,CPS1,OTC
Summary
The EMA European Public Assessment Report (EPAR) for Sodium phenylbutyrate (Ammonaps) contains information regarding the indication of the drug in patients with urea acid disorders. It states that early diagnosis of such disorders and immediate treatment with Sodium phenylbutyrate is important to improve clinical outcome.
There's more of this label. Read more.
5. Annotation of PMDA Label for valproic acid and CPS1,OTC
Summary
The PMDA package insert for valproic acid states that it is contraindicated in patients with known urea cycle disorders (UCDs), due to a risk for severe hyperammonemia. UCDs result from mutations in one of several genes, including ornithine transcarbamylase (OTC) deficiency and carbamoyl-phosphate synthetase 1 (CPS1) deficiency.
There's more of this label. Read more.
6. Annotation of HCSC Label for sodium phenylbutyrate and ASS1,CPS1,OTC
Summary
The product monograph for sodium phenylbutyrate (Pheburane) states that it is indicated for treatment of urea cycle disorders due to deficiencies of carbamylphosphate synthetase (CPS1), ornithine transcarbamylase (OTC) or argininosuccinate synthetase (ASS1).
There's more of this label. Read more.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
List of all variant annotations for CPS1
|
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs1047891 | NC_000002.11:g.211540507C>A, NC_000002.12:g.210675783C>A, NG_008285.1:g.203099C>A, NM_001122633.2:c.4235C>A, NM_001122634.3:c.2864C>A, NM_001875.4:c.4217C>A, NP_001116105.1:p.Thr1412Asn, NP_001116106.1:p.Thr955Asn, NP_001866.2:p.Thr1406Asn, XM_005246322.1:c.4250C>A, XM_011510640.1:c.4250C>A, XM_011510641.1:c.4217C>A, XM_011510642.1:c.4217C>A, XM_011510643.1:c.4217C>A, XM_011510644.1:c.4217C>A, XP_005246379.1:p.Thr1417Asn, XP_011508942.1:p.Thr1417Asn, XP_011508943.1:p.Thr1406Asn, XP_011508944.1:p.Thr1406Asn, XP_011508945.1:p.Thr1406Asn, XP_011508946.1:p.Thr1406Asn, rs2229587, rs3187890, rs52831019, rs7422339 |
C > A
|
SNP |
T1412N
|
Overview
| Alternate Names: | None |
|---|---|
| Alternate Symbols: | None |
| PharmGKB Accession Id: | PA26840 |
Details
| Cytogenetic Location: | chr2 : q35 - q34 |
|---|---|
| GP mRNA Boundary†: | chr2 : 211342406 - 211543831 |
| GP Gene Boundary†: | chr2 : 211332406 - 211546831 |
| Strand: | plus |
Visualization
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.
View on UCSC BrowserCurated Information ?
| Evidence | Drug |
|---|---|
| carglumic acid | |
|
l-methionine |
| phenylacetic acid | |
| sodium benzoate | |
| sodium phenylbutyrate | |
| valproic acid |
| Evidence | Drug Class |
|---|---|
| antiepileptics |
Publications related to CPS1: 4
|
|
An atlas of genetic influences on human blood metabolites. Nature genetics. 2014. Shin So-Youn, et al.
|
|
|
Genome-Wide Meta-Analysis of Homocysteine and Methionine Metabolism Identifies Five One Carbon Metabolism Loci and a Novel Association of ALDH1L1 with Ischemic Stroke. PLoS genetics. 2014. Williams Stephen R, et al.
|
| Effect of CPS14217C>A genotype on valproic-acid-induced hyperammonemia. Pediatrics international : official journal of the Japan Pediatric Society. 2010. Yagi Mariko, et al.
|
|
|
|
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Human mutation. 2009. Mitchell Sabrina, et al.
|
LinkOuts
- NCBI Gene:
- 1373
- OMIM:
- 237300
- 265380
- 608307
- UCSC Genome Browser:
- NM_001875
- RefSeq RNA:
- NM_001122633
- NM_001122634
- NM_001875
- RefSeq Protein:
- NP_001116105
- NP_001116106
- NP_001866
- RefSeq DNA:
- NG_008285
- NT_005403
- UniProtKB:
- CPSM_HUMAN (P31327)
- Q05CV6_HUMAN (Q05CV6)
- Q53TL5_HUMAN (Q53TL5)
- Ensembl:
- ENSG00000021826
- GenAtlas:
- CPS1
- GeneCard:
- CPS1
- MutDB:
- CPS1
- ALFRED:
- LO021607Q