| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 1373 |
Name | CPS1 |
Synonym | CPSASE1;carbamoyl-phosphate synthase 1, mitochondrial;CPS1;carbamoyl-phosphate synthase 1, mitochondrial |
Definition | carbamoyl-phosphate synthase [ammonia], mitochondrial|carbamoylphosphate synthetase I |
Position | 2q35 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | 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. |
| More detail of all Human literatures about CPS1 | |
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Pathways and Diseases |
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Pathway | superpathway of citrulline metabolism;BioCyc;PWY-5004 |
Pathway | Alanine, aspartate and glutamate metabolism;KEGG PATHWAY;hsa00250 |
Pathway | Arginine biosynthesis;PANTHER;P02728 |
Pathway | Nitrogen metabolism;KEGG PATHWAY;hsa00910 |
Pathway | Arginine and proline metabolism;KEGG PATHWAY;hsa00330 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Metabolism of amino acids and derivatives;Reactome;REACT:13 |
Pathway | urea cycle;BioCyc;PWY-4984 |
Pathway | De novo pyrimidine ribonucleotides biosythesis;PANTHER;P02740 |
Pathway | Urea cycle;PID Reactome;500783 |
Disease | METABOLIC;GAD |
Disease | Chronic kidney disease;NHGRI |
Disease | Carbamoylphosphate synthetase I deficiency;OMIM |
Disease | pulmonary hypertension;GAD |
Disease | Genetic disorders;KEGG DISEASE |
Disease | HEMATOLOGICAL;GAD |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | CARDIOVASCULAR;GAD |
Disease | Venoocclusive disease after bone marrow transplantation;OMIM |
Disease | Pulmonary hypertension, familial persistent, of the newborn;OMIM |
Disease | Fibrinogen;NHGRI |
Disease | Homocysteine levels;GAD |
Disease | Homocysteine levels;NHGRI |
Disease | fibrinogen;GAD |
Disease | vascular disease;GAD |
Disease | Carbamoyl phosphate synthetase I deficiency;KEGG DISEASE;H00164 |
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External Links |
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Links to Entrez Gene | 1373 |
Links to all GeneRIF Items | 1373 |
Links to iHOP | 1373 |
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Sequence Information |
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Nucleotide Sequence |
>1373 : length: 4521 atgccacaaatcatcaaaatgacgaggattttgacagctttcaaagtggtgaggacactg aagactggttttggctttaccaatgtgactgcacaccaaaaatggaaattttcaagacct ggcatcaggctcctttctgtcaaggcacagacagcacacattgtcctggaagatggaact aagatgaaaggttactcctttggccatccatcctctgttgctggtgaagtggtttttaat actggcctgggagggtacccagaagctattactgaccctgcctacaaaggacagattctc acaatggccaaccctattattgggaatggtggagctcctgatactactgctctggatgaa ctgggacttagcaaatatttggagtctaatggaatcaaggtttcaggtttgctggtgctg gattatagtaaagactacaaccactggctggctaccaagagtttagggcaatggctacag gaagaaaaggttcctgcaatttatggagtggacacaagaatgctgactaaaataattcgg gataagggtaccatgcttgggaagattgaatttgaaggtcagcctgtggattttgtggat ccaaataaacagaatttgattgctgaggtttcaaccaaggatgtcaaagtgtacggcaaa ggaaaccccacaaaagtggtagctgtagactgtgggattaaaaacaatgtaatccgcctg ctagtaaagcgaggagctgaagtgcacttagttccctggaaccatgatttcaccaagatg gagtatgatgggattttgatcgcgggaggaccggggaacccagctcttgcagaaccacta attcagaatgtcagaaagattttggagagtgatcgcaaggagccattgtttggaatcagt acaggaaacttaataacaggattggctgctggtgccaaaacctacaagatgtccatggcc aacagagggcagaatcagcctgttttgaatatcacaaacaaacaggctttcattactgct cagaatcatggctatgccttggacaacaccctccctgctggctggaaaccactttttgtg aatgtcaacgatcaaacaaatgaggggattatgcatgagagcaaacccttcttcgctgtg cagttccacccagaggtcaccccggggccaatagacactgagtacctgtttgattccttt ttctcactgataaagaaaggaaaagctaccaccattacatcagtcttaccgaagccagca ctagttgcatctcgggttgaggtttccaaagtccttattctaggatcaggaggtctgtcc attggtcaggctggagaatttgattactcaggatctcaagctgtaaaagccatgaaggaa gaaaatgtcaaaactgttctgatgaacccaaacattgcatcagtccagaccaatgaggtg ggcttaaagcaagcggatactgtctactttcttcccatcacccctcagtttgtcacagag gtcatcaaggcagaacagccagatgggttaattctgggcatgggtggccagacagctctg aactgtggagtggaactattcaagagaggtgtgctcaaggaatatggtgtgaaagtcctg ggaacttcagttgagtccattatggctacggaagacaggcagctgttttcagataaacta aatgagatcaatgaaaagattgctccaagttttgcagtggaatcgattgaggatgcactg aaggcagcagacaccattggctacccagtgatgatccgttccgcctatgcactgggtggg ttaggctcaggcatctgtcccaacagagagactttgatggacctcagcacaaaggccttt gctatgaccaaccaaattctggtggagaagtcagtgacaggttggaaagaaatagaatat gaagtggttcgagatgctgatgacaattgtgtcactgtctgtaacatggaaaatgttgat gccatgggtgttcacacaggtgactcagttgttgtggctcctgcccagacactctccaat gccgagtttcagatgttgagacgtacttcaatcaatgttgttcgccacttgggcattgtg ggtgaatgcaacattcagtttgcccttcatcctacctcaatggaatactgcatcattgaa gtgaatgccagactgtcccgaagctctgctctggcctcaaaagccactggctacccattg gcattcattgctgcaaagattgccctaggaatcccacttccagaaattaagaacgtcgta tccgggaagacatcagcctgttttgaacctagcctggattacatggtcaccaagattccc cgctgggatcttgaccgttttcatggaacatctagccgaattggtagctctatgaaaagt gtaggagaggtcatggctattggtcgtacctttgaggagagtttccagaaagctttacgg atgtgccacccatctatagaaggtttcactccccgtctcccaatgaacaaagaatggcca tctaatttagatcttagaaaagagttgtctgaaccaagcagcacgcgtatctatgccatt gccaaggccattgatgacaacatgtcccttgatgagattgagaagctcacatacattgac aagtggtttttgtataagatgcgtgatattttaaacatggaaaagacactgaaaggcctc aacagtgagtccatgacagaagaaaccctgaaaagggcaaaggagattgggttctcagat aagcagatttcaaaatgccttgggctcactgaggcccagacaagggagctgaggttaaag aaaaacatccacccttgggttaaacagattgatacactggctgcagaatacccatcagta acaaactatctctatgttacctacaatggtcaggagcatgatgtcaattttgatgaccat ggaatgatggtgctaggctgtggtccatatcacattggcagcagtgtggaatttgattgg tgtgctgtctctagtatccgcacactgcgtcaacttggcaagaagacggtggtggtgaat tgcaatcctgagactgtgagcacagactttgatgagtgtgacaaactgtactttgaagag ttgtccttggagagaatcctagacatctaccatcaggaggcatgtggtggctgcatcata tcagttggaggccagattccaaacaacctggcagttcctctatacaagaatggtgtcaag atcatgggcacaagccccctgcagatcgacagggctgaggatcgctccatcttctcagct gtcttggatgagctgaaggtggctcaggcaccttggaaagctgttaatactttgaatgaa gcactggaatttgcaaagtctgtggactacccctgcttgttgaggccttcctatgttttg agtgggtctgctatgaatgtggtattctctgaggatgagatgaaaaaattcctagaagag gcgactagagtttctcaggagcacccagtggtgctgacaaaatttgttgaaggggcccga gaagtagaaatggacgctgttggcaaagatggaagggttatctctcatgccatctctgaa catgttgaagatgcaggtgtccactcgggagatgccactctgatgctgcccacacaaacc atcagccaaggggccattgaaaaggtgaaggatgctacccggaagattgcaaaggctttt gccatctctggtccattcaacgtccaatttcttgtcaaaggaaatgatgtcttggtgatt gagtgtaacttgagagcttctcgatccttcccctttgtttccaagactcttggggttgac ttcattgatgtggccaccaaggtgatgattggagagaatgttgatgagaaacatcttcca acattggaccatcccataattcctgctgactatgttgcaattaaggctcccatgttttcc tggccccggttgagggatgctgaccccattctgagatgtgagatggcttccactggagag gtggcttgctttggtgaaggtattcatacagccttcctaaaggcaatgctttccacagga tttaagataccccagaaaggcatcctgataggcatccagcaatcattccggccaagattc cttggtgtggctgaacaattacacaatgaaggtttcaagctgtttgccacggaagccaca tcagactggctcaacgccaacaatgtccctgccaccccagtggcatggccgtctcaagaa ggacagaatcccagcctctcttccatcagaaaattgattagagatggcagcattgaccta gtgattaaccttcccaacaacaacactaaatttgtccatgataattatgtgattcggagg acagctgttgatagtggaatccctctcctcactaattttcaggtgaccaaactttttgct gaagctgtgcagaaatctcgcaaggtggactccaagagtcttttccactacaggcagtac agtgctggaaaagcagcatag |
Protein Sequence |
>1373 : length: 1506 MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGT KMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDE LGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRL LVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGIS TGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPA LVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEV GLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGG LGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVD AMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIP RWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWP SNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGL NSESMTEETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSV TNYLYVTYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVN CNPETVSTDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVK IMGTSPLQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVL SGSAMNVVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISE HVEDAGVHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVI ECNLRASRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFS WPRLRDADPILRCEMASTGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRF LGVAEQLHNEGFKLFATEATSDWLNANNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDL VINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKLFAEAVQKSRKVDSKSLFHYRQY SAGKAA |