Details for: CPS1

Gene ID: 1373

Symbol: CPS1

Ensembl ID: ENSG00000021826

Description: carbamoyl-phosphate synthase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 58.7932
    Cell Significance Index: -9.1500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 36.3108
    Cell Significance Index: -9.2100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 16.3696
    Cell Significance Index: 275.7500
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 10.0248
    Cell Significance Index: 26.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 4.1744
    Cell Significance Index: 828.4200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 3.6816
    Cell Significance Index: 37.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 3.5848
    Cell Significance Index: 682.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.2699
    Cell Significance Index: 136.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.8253
    Cell Significance Index: 52.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.6867
    Cell Significance Index: 183.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.5482
    Cell Significance Index: 38.7000
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.5194
    Cell Significance Index: 8.7500
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.4494
    Cell Significance Index: 10.2000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.3721
    Cell Significance Index: 1238.9400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.2520
    Cell Significance Index: 18.4800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1319
    Cell Significance Index: 184.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.1109
    Cell Significance Index: 23.6600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.0523
    Cell Significance Index: 17.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9135
    Cell Significance Index: 63.1800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7628
    Cell Significance Index: 75.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5721
    Cell Significance Index: 12.4000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3339
    Cell Significance Index: 66.9800
  • Cell Name: colonocyte (CL1000347)
    Fold Change: 0.1877
    Cell Significance Index: 1.1600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1824
    Cell Significance Index: 26.5200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0628
    Cell Significance Index: 4.8200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0490
    Cell Significance Index: 31.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0419
    Cell Significance Index: 1.1700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0336
    Cell Significance Index: 3.9200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0328
    Cell Significance Index: 61.6700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0233
    Cell Significance Index: 2.9900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0145
    Cell Significance Index: 5.2100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0142
    Cell Significance Index: 6.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0137
    Cell Significance Index: 0.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0103
    Cell Significance Index: 5.6400
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.0095
    Cell Significance Index: 0.0800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0083
    Cell Significance Index: 0.1400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0077
    Cell Significance Index: 0.1100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0051
    Cell Significance Index: 0.2300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0018
    Cell Significance Index: -3.2800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0048
    Cell Significance Index: -7.3800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0050
    Cell Significance Index: -3.6600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0060
    Cell Significance Index: -8.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0115
    Cell Significance Index: -8.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0116
    Cell Significance Index: -8.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0162
    Cell Significance Index: -7.3700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0174
    Cell Significance Index: -9.8000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0182
    Cell Significance Index: -5.2500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0262
    Cell Significance Index: -4.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0318
    Cell Significance Index: -4.3700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0328
    Cell Significance Index: -0.3400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0405
    Cell Significance Index: -2.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0418
    Cell Significance Index: -7.1500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0473
    Cell Significance Index: -0.5900
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0478
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0482
    Cell Significance Index: -10.1600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0482
    Cell Significance Index: -0.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0489
    Cell Significance Index: -6.0100
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.0494
    Cell Significance Index: -0.4700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0500
    Cell Significance Index: -6.4600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0528
    Cell Significance Index: -5.3900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0533
    Cell Significance Index: -1.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0558
    Cell Significance Index: -3.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0612
    Cell Significance Index: -1.9600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0612
    Cell Significance Index: -4.3300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0620
    Cell Significance Index: -7.1000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0630
    Cell Significance Index: -0.9500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0682
    Cell Significance Index: -1.8200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0778
    Cell Significance Index: -4.7700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0788
    Cell Significance Index: -8.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0979
    Cell Significance Index: -11.5500
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: -0.1044
    Cell Significance Index: -1.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1051
    Cell Significance Index: -5.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1059
    Cell Significance Index: -7.9000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1061
    Cell Significance Index: -8.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1099
    Cell Significance Index: -4.8600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1120
    Cell Significance Index: -2.8800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1196
    Cell Significance Index: -1.5100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1212
    Cell Significance Index: -7.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1225
    Cell Significance Index: -5.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1235
    Cell Significance Index: -5.8100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1239
    Cell Significance Index: -1.6900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1276
    Cell Significance Index: -7.1600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1330
    Cell Significance Index: -8.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1357
    Cell Significance Index: -5.1400
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1429
    Cell Significance Index: -2.0300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1432
    Cell Significance Index: -4.5600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1486
    Cell Significance Index: -4.0500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1513
    Cell Significance Index: -1.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1528
    Cell Significance Index: -7.9600
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.1658
    Cell Significance Index: -2.3000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1678
    Cell Significance Index: -8.8100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1692
    Cell Significance Index: -2.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1773
    Cell Significance Index: -9.2100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1828
    Cell Significance Index: -3.0600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1861
    Cell Significance Index: -3.1900
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1863
    Cell Significance Index: -2.6700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1881
    Cell Significance Index: -8.1800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1952
    Cell Significance Index: -6.3900
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: -0.1978
    Cell Significance Index: -0.5300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2038
    Cell Significance Index: -5.4600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CPS1 is a mitochondrial enzyme that catalyzes the first committed step of the urea cycle, converting ammonia to carbamoyl phosphate. The enzyme is composed of two subunits, CPSM_HUMAN and Q6PEK7_HUMAN, which are encoded by separate genes. CPS1 is characterized by its high specificity for ammonia and its ability to generate carbamoyl phosphate at a high rate. The enzyme is also sensitive to various regulatory factors, including calcium ions, ATP, and glucagon. **Pathways and Functions:** CPS1 is involved in several metabolic pathways, including: 1. **Urea Cycle:** CPS1 is the first enzyme in the urea cycle, which regulates the disposal of excess nitrogen waste from the body. The enzyme catalyzes the conversion of ammonia to carbamoyl phosphate, which is then converted to citrulline and subsequently to arginine. 2. **Pyrimidine Nucleobase Biosynthesis:** CPS1 is also involved in the synthesis of pyrimidine nucleobases, such as cytosine and thymine. The enzyme generates carbamoyl phosphate, which is then converted to orotate and subsequently to orotidine-5'-phosphate. 3. **Amino Acid Biosynthesis:** CPS1 is involved in the synthesis of amino acids, including arginine, citrulline, and asparagine. The enzyme generates carbamoyl phosphate, which is then converted to these amino acids. **Clinical Significance:** CPS1 plays a crucial role in maintaining nitrogen homeostasis in the body. Mutations in the CPS1 gene have been associated with various disorders, including: 1. **Urea Cycle Disorders:** Mutations in the CPS1 gene can lead to defects in the urea cycle, resulting in the accumulation of ammonia and the development of urea cycle disorders, such as hyperammonemia. 2. **Pyrimidine Deficiencies:** Deficiencies in CPS1 have been associated with pyrimidine deficiencies, which can lead to impaired DNA synthesis and cell growth. 3. **Amino Acid Metabolism Disorders:** CPS1 is also involved in the synthesis of amino acids, and mutations in the gene can lead to disorders affecting amino acid metabolism, such as arginine deficiency. In conclusion, CPS1 is a vital enzyme that plays a crucial role in various metabolic pathways, including the urea cycle, pyrimidine nucleobase biosynthesis, and amino acid biosynthesis. Mutations in the CPS1 gene can lead to various disorders, highlighting the importance of this enzyme in maintaining nitrogen homeostasis and overall human health.

Genular Protein ID: 3053083958

Symbol: CPSM_HUMAN

Name: Carbamoyl-phosphate synthase [ammonia], mitochondrial

UniProtKB Accession Codes:

P31327 B7Z818 J3KQL0 O43774 Q53TL5 Q59HF8 Q7Z5I5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 50 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 46 Gene3D 7 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 16 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PIR 1 PRINTS 2 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 7 Rhea 1 SABIO-RK 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 6 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1840546

Title: Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.

PubMed ID: 1840546

DOI: 10.1016/0378-1119(91)90336-a

PubMed ID: 9711878

Title: Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

PubMed ID: 9711878

DOI: 10.1002/(sici)1098-1004(1998)12:3<206::aid-humu8>3.0.co;2-e

PubMed ID: 12853138

Title: Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.

PubMed ID: 12853138

DOI: 10.1016/s0378-1119(03)00528-6

PubMed ID: 12955727

Title: Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

PubMed ID: 12955727

DOI: 10.1002/humu.9184

PubMed ID: 12655559

Title: Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

PubMed ID: 12655559

DOI: 10.1002/humu.9118

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 19754428

Title: 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.

PubMed ID: 19754428

DOI: 10.1042/bj20090888

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22002106

Title: Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization.

PubMed ID: 22002106

DOI: 10.1074/mcp.m111.013680

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24703693

Title: Lysine glutarylation is a protein posttranslational modification regulated by SIRT5.

PubMed ID: 24703693

DOI: 10.1016/j.cmet.2014.03.014

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11388595

Title: Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

PubMed ID: 11388595

DOI: 10.1007/s004310100725

PubMed ID: 11474210

Title: Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

PubMed ID: 11474210

DOI: 10.1159/000053360

PubMed ID: 11407344

Title: Neonatal pulmonary hypertension -- urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.

PubMed ID: 11407344

DOI: 10.1056/nejm200106143442404

PubMed ID: 15617192

Title: Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

PubMed ID: 15617192

DOI: 10.1023/b:boli.0000045842.59768.ea

PubMed ID: 15164414

Title: Genetic approach to prenatal diagnosis in urea cycle defects.

PubMed ID: 15164414

DOI: 10.1002/pd.884

PubMed ID: 16737834

Title: The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

PubMed ID: 16737834

DOI: 10.1016/j.ymgme.2006.04.006

PubMed ID: 17310273

Title: Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

PubMed ID: 17310273

DOI: 10.1007/s10038-007-0122-9

PubMed ID: 20578160

Title: Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

PubMed ID: 20578160

DOI: 10.1002/humu.21272

PubMed ID: 20520828

Title: The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.

PubMed ID: 20520828

DOI: 10.1371/journal.pone.0010792

PubMed ID: 21120950

Title: Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

PubMed ID: 21120950

DOI: 10.1002/humu.21406

PubMed ID: 21767969

Title: Personalized genomic medicine: lessons from the exome.

PubMed ID: 21767969

DOI: 10.1016/j.ymgme.2011.06.022

PubMed ID: 22173106

Title: Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

PubMed ID: 22173106

DOI: 10.1016/j.gene.2011.11.052

PubMed ID: 23649895

Title: Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

PubMed ID: 23649895

DOI: 10.1002/humu.22349

PubMed ID: 24237036

Title: Large-scale quantification of single amino-acid variations by a variation-associated database search strategy.

PubMed ID: 24237036

DOI: 10.1021/pr400544j

PubMed ID: 24813853

Title: Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.

PubMed ID: 24813853

DOI: 10.1016/j.ymgme.2014.04.003

PubMed ID: 26440671

Title: Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

PubMed ID: 26440671

DOI: 10.1007/s00431-015-2644-z

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 1500
  • Mass: 164939
  • Checksum: E53A22D77563961D
  • Sequence:
    • MTRILTAFKV VRTLKTGFGF TNVTAHQKWK FSRPGIRLLS VKAQTAHIVL EDGTKMKGYS 
FGHPSSVAGE VVFNTGLGGY PEAITDPAYK GQILTMANPI IGNGGAPDTT ALDELGLSKY 
LESNGIKVSG LLVLDYSKDY NHWLATKSLG QWLQEEKVPA IYGVDTRMLT KIIRDKGTML 
GKIEFEGQPV DFVDPNKQNL IAEVSTKDVK VYGKGNPTKV VAVDCGIKNN VIRLLVKRGA 
EVHLVPWNHD FTKMEYDGIL IAGGPGNPAL AEPLIQNVRK ILESDRKEPL FGISTGNLIT 
GLAAGAKTYK MSMANRGQNQ PVLNITNKQA FITAQNHGYA LDNTLPAGWK PLFVNVNDQT 
NEGIMHESKP FFAVQFHPEV TPGPIDTEYL FDSFFSLIKK GKATTITSVL PKPALVASRV 
EVSKVLILGS GGLSIGQAGE FDYSGSQAVK AMKEENVKTV LMNPNIASVQ TNEVGLKQAD 
TVYFLPITPQ FVTEVIKAEQ PDGLILGMGG QTALNCGVEL FKRGVLKEYG VKVLGTSVES 
IMATEDRQLF SDKLNEINEK IAPSFAVESI EDALKAADTI GYPVMIRSAY ALGGLGSGIC 
PNRETLMDLS TKAFAMTNQI LVEKSVTGWK EIEYEVVRDA DDNCVTVCNM ENVDAMGVHT 
GDSVVVAPAQ TLSNAEFQML RRTSINVVRH LGIVGECNIQ FALHPTSMEY CIIEVNARLS 
RSSALASKAT GYPLAFIAAK IALGIPLPEI KNVVSGKTSA CFEPSLDYMV TKIPRWDLDR 
FHGTSSRIGS SMKSVGEVMA IGRTFEESFQ KALRMCHPSI EGFTPRLPMN KEWPSNLDLR 
KELSEPSSTR IYAIAKAIDD NMSLDEIEKL TYIDKWFLYK MRDILNMEKT LKGLNSESMT 
EETLKRAKEI GFSDKQISKC LGLTEAQTRE LRLKKNIHPW VKQIDTLAAE YPSVTNYLYV 
TYNGQEHDVN FDDHGMMVLG CGPYHIGSSV EFDWCAVSSI RTLRQLGKKT VVVNCNPETV 
STDFDECDKL YFEELSLERI LDIYHQEACG GCIISVGGQI PNNLAVPLYK NGVKIMGTSP 
LQIDRAEDRS IFSAVLDELK VAQAPWKAVN TLNEALEFAK SVDYPCLLRP SYVLSGSAMN 
VVFSEDEMKK FLEEATRVSQ EHPVVLTKFV EGAREVEMDA VGKDGRVISH AISEHVEDAG 
VHSGDATLML PTQTISQGAI EKVKDATRKI AKAFAISGPF NVQFLVKGND VLVIECNLRA 
SRSFPFVSKT LGVDFIDVAT KVMIGENVDE KHLPTLDHPI IPADYVAIKA PMFSWPRLRD 
ADPILRCEMA STGEVACFGE GIHTAFLKAM LSTGFKIPQK GILIGIQQSF RPRFLGVAEQ 
LHNEGFKLFA TEATSDWLNA NNVPATPVAW PSQEGQNPSL SSIRKLIRDG SIDLVINLPN 
NNTKFVHDNY VIRRTAVDSG IPLLTNFQVT KLFAEAVQKS RKVDSKSLFH YRQYSAGKAA

Genular Protein ID: 4106805453

Symbol: Q6PEK7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6PEK7

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 RefSeq 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 70
  • Mass: 7879
  • Checksum: FB78BD82E1908187
  • Sequence:
    • MTRILTAFKV VRTLKTGFGF TNVTAHQKWK FSRPGIRLLS VKAQTAHIVL EDRDADTPAP 
LLNQPEPHVI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.