Property Summary

NCBI Gene PubMed Count 72
PubMed Score 180.10
PubTator Score 378.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
Breast cancer 3099 1.39045933102954E-13
posterior fossa group A ependymoma 1511 3.71570585246829E-7
medulloblastoma, large-cell 6234 1.97992451870522E-4
invasive ductal carcinoma 2950 7.13104918245551E-4
pediatric high grade glioma 2712 0.00105087419706427
psoriasis 6685 0.00261773099918706
atypical teratoid / rhabdoid tumor 4369 0.0109332498616927
active ulcerative colitis 477 0.0128868028846421
glioblastoma 5572 0.0150987279106858
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Atherosclerosis 275 0.0 2.0
Kidney disease 397 0.0 2.0
lung cancer 4473 0.0 1.0

Expression

  Differential Expression (10)

Disease log2 FC p
psoriasis -1.300 0.003
posterior fossa group A ependymoma 1.600 0.000
glioblastoma 1.700 0.015
atypical teratoid / rhabdoid tumor 1.200 0.011
medulloblastoma, large-cell 1.800 0.000
lung cancer 3.400 0.000
active ulcerative colitis 3.476 0.013
pediatric high grade glioma 1.700 0.001
Breast cancer -1.800 0.000
invasive ductal carcinoma -1.100 0.001

Synonym

Accession P31327 B7Z818 J3KQL0 O43774 Q53TL5 Q59HF8 Q7Z5I5
Symbols PHN
CPSASE1

Gene

PANTHER Protein Class (1)

PDB

2YVQ   4UTR   4UTV   4UTX   4UTZ   4UU7   4UU8   4UUA   4UUB   5DOT   5DOU  

  Ortholog (13)

Gene RIF (41)

PMID Text
26938218 CPS1 is involved in the urea cycle in weight maintenance.
26822151 These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis.
26592762 Molecular structure of CPS1 has been deciphered.
26499888 CPS1 and CPS1IT1 may be potential prognostic indicators for patients with intrahepatic cholangiocarcinoma.
26059772 Mechanism for Switching On/Off the Urea Cycle
25410056 characterized the only currently known recurrent CPS1 mutation, p.Val1013del found in eleven unrelated patients of Turkish descent; mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble
25099619 Overexpression of CPS1 is associated with rectal cancers.
24924744 CPS1 becomes readily detectable upon hepatocyte apoptotic and necrotic death. Its abundance and short serum half-life suggest that it may be a useful prognostic biomarker in acute liver injury.
24888247 study examined patient characteristics, including genetic polymorphism, to identify risk factors associated with development of hyperammonemia during valproic acid-based therapy; found CPS1 4217C>A polymorphism may not be associated with development of hyperammonemia in Japanese population
24813853 Findings support the disease-causing role of the mutations reported to affect the CPS1 deficiency, revealing a key role of the small CPS1 domain of unknown function (UFSD) for proper enzyme folding.
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AA Sequence

MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGE      1 - 70
VVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDY     71 - 140
NHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVK    141 - 210
VYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRK    211 - 280
ILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWK    281 - 350
PLFVNVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRV    351 - 420
EVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQ    421 - 490
FVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEK    491 - 560
IAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK    561 - 630
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQ    631 - 700
FALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMV    701 - 770
TKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLR    771 - 840
KELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMTEETLKRAKEI    841 - 910
GFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYVTYNGQEHDVNFDDHGMMVLG    911 - 980
CGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETVSTDFDECDKLYFEELSLERILDIYHQEACG    981 - 1050
GCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAK   1051 - 1120
SVDYPCLLRPSYVLSGSAMNVVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISH   1121 - 1190
AISEHVEDAGVHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRA   1191 - 1260
SRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRDADPILRCEMA   1261 - 1330
STGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNA   1331 - 1400
NNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVT   1401 - 1470
KLFAEAVQKSRKVDSKSLFHYRQYSAGKAA                                           1471 - 1500
//

Text Mined References (87)

PMID Year Title
26938218 2016 Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance.
26822151 2016 Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.
26592762 2015 Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
26499888 2015 Co?expression of the carbamoyl?phosphate synthase 1 gene and its long non?coding RNA correlates with poor prognosis of patients with intrahepatic cholangiocarcinoma.
26440671 2016 Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
26059772 2015 The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
25410056 2014 Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
25099619 2014 Overexpression of CPS1 is an independent negative prognosticator in rectal cancers receiving concurrent chemoradiotherapy.
24924744 2014 Carbamoyl phosphate synthetase-1 is a rapid turnover biomarker in mouse and human acute liver injury.
24888247 2014 4217C>A polymorphism in carbamoyl-phosphate synthase 1 gene may not associate with hyperammonemia development during valproic acid-based therapy.
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