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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:hyperprolinemia type II pathway
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Accession:PW:0001932 term browser browse the term
Definition:A rare condition resulting from alterations in the proline amino acid metabolic pathway leading to high levels of proline and the related compound pyrroline-5-carboxylase in the circulation.
Synonyms:exact_synonym: 1-pyrroline-5-carboxylate dehydrogenase deficiency pathway;   hyperprolinemia type II disease pathway
 related_synonym: SMP:00360



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hyperprolinemia type II pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00360 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345
JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00360 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00360 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00360 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00360 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00360 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00360 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00360 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00360 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00360 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00360 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00360 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633
JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00360 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00360 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00360 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00360 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775
JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00360 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00360 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00360 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00360 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of amino acid metabolism pathway 229
              hyperprolinemia type II pathway 20
paths to the root