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Pathways
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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).
Term:carbamoyl phosphate synthetase I deficiency pathway
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Accession:PW:0002220 term browser browse the term
Definition:An autosomal recessive disorder resulting from alterations in the urea cycle pathway and due to defects in the hepatic mitochondrial enzyme carbamoyl phosphate synthetase 1.
Synonyms:exact_synonym: carbamoyl phosphate synthase I deficiency pathway
 related_synonym: SMP:00002;   carbamoyl synthetase deficiency pathway
 alt_id: PW:0002144


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carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 Ensembl chr 8:144,259,991...144,263,737 JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4063
    disease pathway 714
      nutritional and metabolic disease pathway 581
        metabolic disease pathway 542
          mitochondrial disease pathway 82
            carbamoyl phosphate synthetase I deficiency pathway 13
Path 2
Term Annotations click to browse term
  pathway 4063
    disease pathway 714
      congenital disease pathway 525
        inborn genetic disease pathway 525
          inborn error of metabolism pathway 525
            inborn error of amino acid metabolism pathway 231
              inborn error of urea cycle pathway 56
                carbamoyl phosphate synthetase I deficiency pathway 13
paths to the root