The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have be... See more...

Aliases for CPS1 Gene

Aliases for CPS1 Gene

  • Carbamoyl-Phosphate Synthase 1 2 3 5
  • Carbamoyl-Phosphate Synthase [Ammonia], Mitochondrial 3 4
  • Carbamoyl-Phosphate Synthase 1, Mitochondrial 2 3
  • Carbamoyl-Phosphate Synthase (Ammonia) 2 3
  • EC 6.3.4.16 4 50
  • Carbamoyl-Phosphate Synthetase 1, Mitochondrial 2
  • Carbamoyl-Phosphate Synthetase I 4
  • Carbamoylphosphate Synthetase I 3
  • CPSase I 4
  • CPSASE1 3
  • CPS1 5
  • PHN 3

External Ids for CPS1 Gene

Previous GeneCards Identifiers for CPS1 Gene

  • GC02P209696
  • GC02P210145
  • GC02P211385
  • GC02P211623
  • GC02P211246
  • GC02P211050
  • GC02P211129
  • GC02P211342
  • GC02P203189

Summaries for CPS1 Gene

Entrez Gene Summary for CPS1 Gene

  • The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

GeneCards Summary for CPS1 Gene

CPS1 (Carbamoyl-Phosphate Synthase 1) is a Protein Coding gene. Diseases associated with CPS1 include Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To and Pulmonary Hypertension, Neonatal. Among its related pathways are Carbon metabolism and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is CAD.

UniProtKB/Swiss-Prot Summary for CPS1 Gene

  • Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPS1 Gene

Genomics for CPS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CPS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J210475 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 275.7 -0.6 -583 3.4 SP1 MYC POLR2A CEBPA YY1 MXD4 CEBPB SMAD5 SIN3A MBD2 CPS1 LANCL1 KANSL1L-AS1 HSALNG0021968 MYL1
GH02J210556 Promoter/Enhancer 1 EPDnew dbSUPER 250.2 +78.9 78900 0.1 ATF3 YY1 CEBPB FOXA2 RXRA ZBTB33 TBP JUND HNF4A FOXA1 CPS1 HSALNG0021970 HSALNG0021971
GH02J210560 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 30.2 +84.3 84263 3.5 CEBPA YY1 CEBPB EP300 RXRA TBP TCF7L2 JUND HNF4A SP1 CPS1 ACADL HSALNG0021970 HSALNG0021971
GH02J210544 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +69.8 69805 6.4 KLF9 CEBPA ATF3 BRCA1 YY1 MXD4 CEBPB FOXA1 KLF11 HOMEZ CPS1 ACADL HSALNG0021970 HSALNG0021971
GH02J210558 Enhancer 0.8 FANTOM5 Ensembl 24.8 +81.1 81133 0.4 YY1 TBP ZNF843 JUND PRDM6 SP7 POLR2A MEIS2 PKNOX1 ZEB2 CPS1 ACADL HSALNG0021970 HSALNG0021971
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPS1

Top Transcription factor binding sites by QIAGEN in the CPS1 gene promoter:
  • AP-1
  • C/EBPalpha
  • CBF(2)
  • CHOP-10
  • FOXI1
  • HFH-3
  • HTF
  • MRF-2
  • NF-Y
  • Pax-3

Genomic Locations for CPS1 Gene

Latest Assembly
chr2:210,477,682-210,679,107
(GRCh38/hg38)
Size:
201,426 bases
Orientation:
Plus strand

Previous Assembly
chr2:211,342,409-211,543,831
(GRCh37/hg19 by Entrez Gene)
Size:
201,423 bases
Orientation:
Plus strand

chr2:211,342,406-211,543,831
(GRCh37/hg19 by Ensembl)
Size:
201,426 bases
Orientation:
Plus strand

Genomic View for CPS1 Gene

Genes around CPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPS1 Gene

Proteins for CPS1 Gene

  • Protein details for CPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31327-CPSM_HUMAN
    Recommended name:
    Carbamoyl-phosphate synthase [ammonia], mitochondrial
    Protein Accession:
    P31327
    Secondary Accessions:
    • B7Z818
    • J3KQL0
    • O43774
    • Q53TL5
    • Q59HF8
    • Q7Z5I5

    Protein attributes for CPS1 Gene

    Size:
    1500 amino acids
    Molecular mass:
    164939 Da
    Quaternary structure:
    • Can form homooligomers (monomers as predominant form and dimers).
    SequenceCaution:
    • Sequence=BAD92037.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CPS1 Gene

    Alternative splice isoforms for CPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPS1 Gene

Selected DME Specific Peptides for CPS1 Gene

P31327:
  • ISQGAIEKVK
  • VINLPNNNTK
  • FNTGLGGY
  • MANRGQNQPV
  • LPAGWKPLFVN
  • CEMASTGEVACFG
  • ACFEPSLDYMVTKIPRWDLDRFHG
  • EATRVSQEHPVV
  • IIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIK
  • ILGMGGQTALNCGVELFKRGVLKEYGV
  • PQKGILIGIQ
  • QIDRAEDRSIFSAVLDEL
  • TEDRQLFSDKLNEI
  • KGYSFGHP
  • GKKTVVVNCNPETVSTDFDECDKLYFEELS
  • GCIISVGGQIPNNLAVPLYKNGVKIMGTSP
  • AFAISGPFNVQFLV
  • NEGIMHE
  • LVKRGAEVHLVPWNHDF
  • DNCVTVCNMENVDAMGVHTGDS
  • ATPVAWPSQEGQ
  • GNDVLVIECNLRASRSFPFVSKTLGVDFIDVATKVMIGE
  • PWVKQIDTLAAEYP
  • IKAPMFSWPRLR
  • VLGTSVESIM
  • AQAPWKAVN
  • VVRHLGIVGECNIQFALHPTS
  • NPIIGNGGAPDT

Post-translational modifications for CPS1 Gene

  • Undergoes proteolytic cleavage in the C-terminal region corresponding to the loss of approximately 12 AA residues from the C-terminus.
  • Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity).
  • Glutarylated. Glutarylation levels increase during fasting. Deglutarylated by SIRT5 at Lys-55, Lys-219, Lys-412, Lys-889, Lys-892, Lys-915, Lys-1360 and Lys-1486, leading to activation.
  • Glycosylation at Ser537, Ser1331, and Thr1332
  • Modification sites at PhosphoSitePlus

Domains & Families for CPS1 Gene

Gene Families for CPS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CPS1 Gene

InterPro:
Blocks:
  • Glutamine amidotransferase class-I
  • MGS-like
  • Carbamoyl-phosphate synthase protein GATase domain signature
  • Carbamoyl-phosphate synthase, small chain
  • Carbamoyl-phosphate synthetase large chain, oligomerisation

Suggested Antigen Peptide Sequences for CPS1 Gene

GenScript: Design optimal peptide antigens:
  • Carbamoyl-phosphate synthetase I (CPSM_HUMAN)
  • CPS1 protein (Q05CV6_HUMAN)
  • Carbamoylphosphate synthetase I (Q5R206_HUMAN)
  • Carbamoylphosphate synthetase I (Q5R207_HUMAN)
  • Carbamoylphosphate synthetase I (Q5R208_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31327

UniProtKB/Swiss-Prot:

CPSM_HUMAN :
  • The type-1 glutamine amidotransferase domain is defective.
Domain:
  • The type-1 glutamine amidotransferase domain is defective.
genes like me logo Genes that share domains with CPS1: view

Function for CPS1 Gene

Molecular function for CPS1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate; Xref=Rhea:RHEA:18029, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:28938, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58228, ChEBI:CHEBI:456216; EC=6.3.4.16; Evidence={ECO:0000269|PubMed:23649895, ECO:0000269|PubMed:24813853};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.47 mM for ATP {ECO:0000269|PubMed:23649895}; KM=4.0 mM for HCO(3)(-) {ECO:0000269|PubMed:23649895}; KM=1.00 mM for NH(4)(+) {ECO:0000269|PubMed:23649895}; Vmax=1.22 umol/min/mg enzyme for ATP {ECO:0000269|PubMed:23649895}; Vmax=1.23 umol/min/mg enzyme for HCO(3)(-) {ECO:0000269|PubMed:23649895}; Vmax=1.19 umol/min/mg enzyme for NH(4)(+) {ECO:0000269|PubMed:23649895};
UniProtKB/Swiss-Prot EnzymeRegulation:
Requires N-acetyl-L-glutamate (NAG) as an allosteric activator. Activated by glycerol in the absence of NAG, whereas in the presence of NAG it is inhibited by increasing concentrations of glycerol.
GENATLAS Biochemistry:
carbamoyl phosphate synthetase 1,mitochondrial,urea cycle

Enzyme Numbers (IUBMB) for CPS1 Gene

Phenotypes From GWAS Catalog for CPS1 Gene

Gene Ontology (GO) - Molecular Function for CPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004087 carbamoyl-phosphate synthase (ammonia) activity IMP 8486760
GO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity IEA --
GO:0004175 endopeptidase activity IEA --
genes like me logo Genes that share ontologies with CPS1: view
genes like me logo Genes that share phenotypes with CPS1: view

Human Phenotype Ontology for CPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPS1 Gene

MGI Knock Outs for CPS1:

miRNA for CPS1 Gene

miRTarBase miRNAs that target CPS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPS1

No data available for Transcription Factor Targets and HOMER Transcription for CPS1 Gene

Localization for CPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPS1 Gene

Mitochondrion. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoli rim (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA,IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with CPS1: view

Pathways & Interactions for CPS1 Gene

genes like me logo Genes that share pathways with CPS1: view

Gene Ontology (GO) - Biological Process for CPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:0001889 liver development IEA --
GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process IEA --
GO:0006508 proteolysis IEA --
GO:0006541 glutamine metabolic process IEA,IBA 21873635
genes like me logo Genes that share ontologies with CPS1: view

No data available for SIGNOR curated interactions for CPS1 Gene

Drugs & Compounds for CPS1 Gene

(17) Drugs for CPS1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma Enzyme, substrate 0
Carglumic acid Approved Pharma Target, allosteric modulator 0
Valproic acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 387
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Water Approved Pharma 0

(7) Additional Compounds for CPS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbamoyl phosphate
  • Aminocarbonyl dihydrogen phosphate
  • Carbamic phosphoric monoanhydride
  • Carbamyl phosphate
  • Monocarbamoyl phosphate
  • Phosphoric acid mono(formamide)ester
590-55-6
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with CPS1: view

Transcripts for CPS1 Gene

mRNA/cDNA for CPS1 Gene

5 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPS1

Alternative Splicing Database (ASD) splice patterns (SP) for CPS1 Gene

No ASD Table

Relevant External Links for CPS1 Gene

GeneLoc Exon Structure for
CPS1

Expression for CPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPS1 Gene

This gene is overexpressed in Liver (x45.4).

Protein differential expression in normal tissues from HIPED for CPS1 Gene

This gene is overexpressed in Liver (34.1), Liver, secretome (18.0), and Fetal Liver (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPS1 Gene



Protein tissue co-expression partners for CPS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPS1

SOURCE GeneReport for Unigene cluster for CPS1 Gene:

Hs.149252

mRNA Expression by UniProt/SwissProt for CPS1 Gene:

P31327-CPSM_HUMAN
Tissue specificity: Primarily in the liver and small intestine.

Evidence on tissue expression from TISSUES for CPS1 Gene

  • Liver(4.9)
  • Intestine(4.6)
  • Nervous system(4.5)
  • Heart(2.6)
  • Blood(2.2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CPS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • kidney
  • liver
  • stomach
General:
  • blood
genes like me logo Genes that share expression patterns with CPS1: view

Primer products for research

Orthologs for CPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CPS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CPS1 29 30
  • 99.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CPS1 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CPS1 29 30
  • 92.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CPS1 29 30
  • 92.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cps1 29
  • 89.36 (n)
Mouse
(Mus musculus)
Mammalia Cps1 29 16 30
  • 89.24 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CPS1 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CPS1 29 30
  • 76.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CPS1 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cps1 29
  • 73.75 (n)
Str.8825 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.24543 29
Zebrafish
(Danio rerio)
Actinopterygii cps1 29 30
  • 69.41 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11701 29
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA2 30
  • 34 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CARB 29
  • 49.03 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0570700 29
  • 45.19 (n)
Species where no ortholog for CPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CPS1 Gene

ENSEMBL:
Gene Tree for CPS1 (if available)
TreeFam:
Gene Tree for CPS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPS1: view image
Alliance of Genome Resources:
Additional Orthologs for CPS1

Paralogs for CPS1 Gene

Paralogs for CPS1 Gene

(1) SIMAP similar genes for CPS1 Gene using alignment to 10 proteins:

  • CPSM_HUMAN
  • C9JTA4_HUMAN
  • E7EWJ3_HUMAN
  • Q05CV6_HUMAN
  • Q5R206_HUMAN
  • Q5R207_HUMAN
  • Q5R208_HUMAN
  • Q5R209_HUMAN
  • Q5R210_HUMAN
  • Q5R211_HUMAN
genes like me logo Genes that share paralogs with CPS1: view

Variants for CPS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPS1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1001895 Uncertain Significance: Congenital hyperammonemia, type I 210,592,932(+) CACCCCGGGG/C
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del)
NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION
1005659 Uncertain Significance: Congenital hyperammonemia, type I 210,637,710(+) T/C
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1011888 Uncertain Significance: Congenital hyperammonemia, type I 210,658,668(+) G/A
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1011988 Uncertain Significance: Congenital hyperammonemia, type I 210,648,037(+) T/C
NM_001875.5(CPS1):c.3316T>C (p.Trp1106Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1014717 Uncertain Significance: Congenital hyperammonemia, type I 210,599,468(+) C/T
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CPS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CPS1 Gene

Variant ID Type Subtype PubMed ID
esv2674073 CNV deletion 23128226
esv3594156 CNV loss 21293372
esv3594159 CNV loss 21293372
nsv477718 CNV novel sequence insertion 20440878
nsv821631 CNV loss 15273396

Variation tolerance for CPS1 Gene

Residual Variation Intolerance Score: 7.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.82; 98.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPS1 Gene

Human Gene Mutation Database (HGMD)
CPS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPS1
Leiden Open Variation Database (LOVD)
CPS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPS1 Gene

Disorders for CPS1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for CPS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
  • carbamoyl phosphate synthetase i deficiency
pulmonary hypertension, neonatal
  • pulmonary hypertension, neonatal, susceptibility to
pulmonary hypertension
  • primary pulmonary hypertension
ornithine transcarbamylase deficiency, hyperammonemia due to
  • ornithine carbamoyltransferase deficiency
isovaleric acidemia
  • iva
- elite association - COSMIC cancer census association via MalaCards
Search CPS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CPSM_HUMAN
  • Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. {ECO:0000269 PubMed:11388595, ECO:0000269 PubMed:11474210, ECO:0000269 PubMed:12655559, ECO:0000269 PubMed:12955727, ECO:0000269 PubMed:15164414, ECO:0000269 PubMed:15617192, ECO:0000269 PubMed:16737834, ECO:0000269 PubMed:17310273, ECO:0000269 PubMed:20578160, ECO:0000269 PubMed:21120950, ECO:0000269 PubMed:22173106, ECO:0000269 PubMed:23649895, ECO:0000269 PubMed:24813853, ECO:0000269 PubMed:26440671, ECO:0000269 PubMed:9711878}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Pulmonary hypertension, neonatal (PHN) [MIM:615371]: A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease. {ECO:0000269 PubMed:11407344}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. CPS1 variants influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406 (PubMed:11407344). {ECO:0000269 PubMed:11407344}.

Genatlas disease for CPS1 Gene

neonatal distress and hyperammonemia

Additional Disease Information for CPS1

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Publications for CPS1 Gene

  1. The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants. (PMID: 20520828) Moonen RM … Villamor E (PloS one 2010) 3 4 22 40
  2. Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase. (PMID: 19754428) Pekkala S … Cervera J (The Biochemical journal 2009) 3 4 22
  3. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. (PMID: 17188582) Canter JA … Barr FE (Mitochondrion 2007) 3 22 40
  4. Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis. (PMID: 17597649) Moonen RM … Villamor E (Pediatric research 2007) 3 22 40
  5. Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients. (PMID: 15617192) Wakutani Y … Nakashima K (Journal of inherited metabolic disease 2004) 3 4 22

Products for CPS1 Gene

Sources for CPS1 Gene