CPS1 ELISA Kit for Human(Homo sapiens) | EIAab.comCPS1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > CPS1(Gene name) > Human

CPS1 (Gene name),

Carbamoyl-phosphate synthase [ammonia], mitochondrial (Protein name ), CPSM_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

CPS1;

Protein name:

Carbamoyl-phosphate synthase [ammonia], mitochondrial;

Alternative:

Carbamoyl-phosphate synthetase I(CPSase I);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

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

Subcellular Location:

Mitochondrion

Protein Attributes:

Sequence length:

1500

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

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600:

650:

700:

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850:

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950:

1000:

1050:

1100:

1150:

1200:

1250:

1300:

1350:

1400:

1450:

1500:

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

237300

String:

P31327

STRING:

9606.ENSP00000402608

KEGG:

hsa:1373

Pfam:

PF00289

UniGene:

Hs.149252

SMR:

P31327

Uniprot:

P31327

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ELISA Kit for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

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E15060h

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96T

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ELISA Kit for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

E15060r

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96T

ELISA Kit for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

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E15060m

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96T

CLIA Kit for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

U15060h

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96T

CLIA Kit for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

U15060r

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96T

CLIA Kit for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

U15060m

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96T

Polyclonal Antibody for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

P15060Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

P15060Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Cat.:

P15060Rb-r

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

Protein for Human Carbamoyl-phosphate synthase [ammonia], mitochondrial

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia."
Haraguchi Y. , Uchino T. , Takiguchi M. , Endo F. , Mori M. , Matsuda I.
Gene107:335-340(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANTS SER-1266; LEU-1283 AND ASN-1406
tissue: Liver.
2.

"Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1."
Finckh U. , Kohlschuetter A. , Schaefer H. , Sperhake K. , Colombo J.-P. , Gal A.
Hum. Mutat.12:206-211(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT CPS1D MET-544;VARIANT ALA-344
tissue: Liver.
3.

"Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene."
Summar M.L. , Hall L.D. , Eeds A.M. , Hutcheson H.B. , Kuo A.N. , Willis A.S. , Rubio V. , Arvin M.K. , Schofield J.P. , Dawson E.P.
Gene311:51-57(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANTS ALA-344; SER-1376 AND ASN-1406
4.

"Cloning of an isoform of CPS1 gene related to spermatogenesis."
Huo R. , Zhu H. , Huang X.Y. , Xu Z.Y. , Lu L. , Xu M. , Yin L.L. , Li J.M. , Zhou Z.M. , Sha J.H.
Submitted (2003-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
tissue: Testis.
5.

"Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions."
Funghini S. , Donati M.A. , Pasquini E. , Zammarchi E. , Morrone A.
Hum. Mutat.22:340-341(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1);VARIANTS CPS1D GLY-457 AND ARG-810;VARIANT ASN-1406
6.

"Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset."
Haeberle J. , Schmidt E. , Pauli S. , Rapp B. , Christensen E. , Wermuth B. , Koch H.G.
Hum. Mutat.21:444-444(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1);VARIANTS CPS1D SER-843 AND GLU-875
7.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Testis.
8.

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W. , Graves T.A. , Fulton R.S. , Fulton L.A. , Pepin K.H. , Minx P. , Wagner-McPherson C. , Layman D. , Wylie K. , Sekhon M. , Becker M.C. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , Nash W.E. , Kremitzki C. , Oddy L. , Du H. , more...
Nature434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
9.

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
10.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
11.

"Homo sapiens protein coding cDNA."
Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S. , Ohara O. , Nagase T. , Kikuno R.F.
Submitted (2005-03) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3);VARIANT ALA-344
tissue: Brain.
12.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 795-1500
tissue: Small intestine.
13.

"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."
Pekkala S. , Martinez A.I. , Barcelona B. , Gallego J. , Bendala E. , Yefimenko I. , Rubio V. , Cervera J.
Biochem. J.424:211-220(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALLOSTERIC ACTIVATOR NAG BINDING SITE
14.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
15.

"Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization."
Ahmad Y. , Boisvert F.M. , Lundberg E. , Uhlen M. , Lamond A.I.
Mol. Cell. Proteomics11:M111.013680.01-M111.013680.15(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]
16.

"Crystal structure of MGS domain of carbamoyl-phosphate synthetase from Homo sapiens."
RIKEN structural genomics initiative (RSGI)
Submitted (2009-02) to the PDB data bank

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.98 ANGSTROMS) OF 1343-1478
17.

"Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts."
Rapp B. , Haberle J. , Linnebank M. , Wermuth B. , Marquardt T. , Harms E. , Koch H.G.
Eur. J. Pediatr.160:283-287(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CPS1D ARG-1054
18.

"Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency."
Aoshima T. , Kajita M. , Sekido Y. , Kikuchi S. , Yasuda I. , Saheki T. , Watanabe K. , Shimokata K. , Niwa T.
Hum. Hered.52:99-101(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CPS1D ARG-337
19.

"Neonatal pulmonary hypertension -- urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function."
Pearson D.L. , Dawling S. , Walsh W.F. , Haines J.L. , Christman B.W. , Bazyk A. , Scott N. , Summar M.L.
N. Engl. J. Med.344:1832-1838(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-1406;INVOLVEMENT IN PHN
20.

"Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients."
Wakutani Y. , Nakayasu H. , Takeshima T. , Adachi M. , Kawataki M. , Kihira K. , Sawada H. , Bonno M. , Yamamoto H. , Nakashima K.
J. Inherit. Metab. Dis.27:787-788(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CPS1D HIS-850 AND PRO-918
21.

"Genetic approach to prenatal diagnosis in urea cycle defects."
Haeberle J. , Koch H.G.
Prenat. Diagn.24:378-383(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CPS1D SER-843 AND GLU-875
22.

"The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency."
Eeds A.M. , Hall L.D. , Yadav M. , Willis A. , Summar S. , Putnam A. , Barr F. , Summar M.L.
Mol. Genet. Metab.89:80-86(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CPS1D GLU-301; CYS-389; ARG-390; THR-589; SER-640; LYS-716; LEU-805; VAL-911; PRO-958; SER-982; PHE-998; LEU-1089; PRO-1203; ASN-1205; PRO-1331; THR-1378; LEU-1411 AND ALA-1443
23.

"Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency."
Kurokawa K. , Yorifuji T. , Kawai M. , Momoi T. , Nagasaka H. , Takayanagi M. , Kobayashi K. , Yoshino M. , Kosho T. , Adachi M. , Otsuka H. , Yamamoto S. , Murata T. , Suenaga A. , Ishii T. , Terada K. , Shimura N. , Kiwaki K. , more...
J. Hum. Genet.52:349-354(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CPS1D GLU-79; ASN-212; ASN-280; PRO-438; HIS-587; ARG-593; LYS-651; ILE-674; HIS-780; CYS-850; ASP-982; ARG-1103; GLY-1141; PRO-1195; VAL-1215 AND LYS-1241
24.

"Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis."
Pekkala S. , Martinez A.I. , Barcelona B. , Yefimenko I. , Finckh U. , Rubio V. , Cervera J.
Hum. Mutat.31:801-808(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CPS1D PHE-123; ARG-337; ASN-471; PRO-678; LEU-774; LEU-1411; GLN-1453; TRP-1453 AND HIS-1491;VARIANT SER-1376;CHARACTERIZATION OF VARIANTS CPS1D PHE-123; ARG-337; ASN-471; PRO-678; LEU-774; LEU-1411; GLN-1453; TRP-1453 AND HIS-1491;CHARACTERIZATION OF VARIANT SER-1376
25.

"The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants."
Moonen R.M. , Reyes I. , Cavallaro G. , Gonzalez-Luis G. , Bakker J.A. , Villamor E.
PLoS ONE5:E10792-E10792(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-1406
26.

"Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations."
Haberle J. , Shchelochkov O.A. , Wang J. , Katsonis P. , Hall L. , Reiss S. , Eeds A. , Willis A. , Yadav M. , Summar S. , Lichtarge O. , Rubio V. , Wong L.J. , Summar M.
Hum. Mutat.32:579-589(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CPS1D VAL-43; ASP-58; PHE-65; GLY-71; SER-87; ASP-89; GLY-165; VAL-224; CYS-233; PRO-243; GLU-258; GLU-263; VAL-304; GLU-317; HIS-358; LEU-382; ARG-401; ARG-431; VAL-432; THR-438; GLU-450; PRO-498; GLU-531; GLY-531; MET-544; CYS-587; HIS-587; LEU-587; LEU-597; MET-622; ASP-628; ARG-632; PRO-638; TYR-648; VAL-654; LYS-674; SER-698; LYS-718; GLN-721; PRO-724; THR-726; VAL-767; HIS-780; ILE-792; SER-803; GLY-803; CYS-803; SER-805; TRP-814; ARG-816; HIS-850; GLU-911; LEU-913; HIS-914; GLY-914; THR-932; THR-949; CYS-959; CYS-962; GLU-978; VAL-982; HIS-984; THR-986; CYS-987; SER-992; SER-1016; LEU-1017; ILE-1022; GLY-1034; ARG-1045; ARG-1059; GLU-1065; CYS-1089; GLU-1155; VAL-1155; LEU-1203; GLN-1228; ASP-1255; GLN-1262; PRO-1262; HIS-1274; ARG-1327; GLU-1333; LEU-1371; MET-1391; VAL-1398; LEU-1439; TRP-1453 AND ARG-1462
27.

"Personalized genomic medicine: lessons from the exome."
NISC Comparative Sequencing Program , Solomon B.D. , Pineda-Alvarez D.E. , Hadley D.W. , Teer J.K. , Cherukuri P.F. , Hansen N.F. , Cruz P. , Young A.C. , Blakesley R.W. , Lanpher B. , Mayfield Gibson S. , Sincan M. , Chandrasekharappa S.C. , Mullikin J.C.
Mol. Genet. Metab.104:189-191(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS VAL-530 AND ASN-1406
28.

"Large-scale quantification of single amino-acid variations by a variation-associated database search strategy."
Song C. , Wang F. , Cheng K. , Wei X. , Bian Y. , Wang K. , Tan Y. , Wang H. , Ye M. , Zou H.
J. Proteome Res.13:241-248(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-1406

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