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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:3-methylglutaconic aciduria type 1 pathway
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Accession:PW:0002274 term browser browse the term
Definition:A rare autosomal recessive condition resulting from alterations in leucine metabolism.
Synonyms:exact_synonym: 3-methylglutaconyl-CoA hydratase deficiency pathway;   3MG-CoA hydratase deficiency pathway;   MGA type I pathway;   MGA1 pathway;   type I 3-Methylglutaconic aciduria disease pathway;   type I 3-Methylglutaconic aciduria pathway
 related_synonym: SMP:00139


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3-methylglutaconic aciduria type 1 pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO SMPDB SMP:00139 NCBI chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Acaa2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) ISO SMPDB SMP:00139 NCBI chr18:74,779,212...74,806,207
Ensembl chr18:74,779,197...74,806,208
JBrowse link
G Acad8 acyl-Coenzyme A dehydrogenase family, member 8 ISO SMPDB SMP:00139 NCBI chr 9:26,974,138...26,999,571
Ensembl chr 9:26,974,135...26,999,566
JBrowse link
G Acadm acyl-Coenzyme A dehydrogenase, medium chain ISO SMPDB SMP:00139 NCBI chr 3:153,922,353...153,944,643
Ensembl chr 3:153,922,357...153,944,632
JBrowse link
G Acads acyl-Coenzyme A dehydrogenase, short chain ISO SMPDB SMP:00139 NCBI chr 5:115,110,299...115,119,346
Ensembl chr 5:115,110,299...115,119,346
JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO SMPDB SMP:00139 NCBI chr 7:131,410,601...131,446,211
Ensembl chr 7:131,410,601...131,448,944
JBrowse link
G Acat1 acetyl-Coenzyme A acetyltransferase 1 ISO SMPDB SMP:00139 NCBI chr 9:53,580,522...53,610,350
Ensembl chr 9:53,580,522...53,610,382
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO SMPDB SMP:00139 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Aldh6a1 aldehyde dehydrogenase family 6, subfamily A1 ISO SMPDB SMP:00139 NCBI chr12:84,430,717...84,451,024
Ensembl chr12:84,430,717...84,451,004
JBrowse link
G Aox1 aldehyde oxidase 1 ISO SMPDB SMP:00139 NCBI chr 1:58,029,809...58,106,410
Ensembl chr 1:58,029,931...58,106,413
JBrowse link
G Auh AU RNA binding protein/enoyl-coenzyme A hydratase ISO SMPDB SMP:00139 NCBI chr13:52,835,107...52,929,704
Ensembl chr13:52,835,119...52,929,681
JBrowse link
G Bcat1 branched chain aminotransferase 1, cytosolic ISO SMPDB SMP:00139 NCBI chr 6:144,993,835...145,076,157
Ensembl chr 6:144,993,835...145,076,184
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO SMPDB SMP:00139 NCBI chr 7:25,629,852...25,658,782
Ensembl chr 7:25,629,946...25,658,981
JBrowse link
G Bckdhb branched chain ketoacid dehydrogenase E1, beta polypeptide ISO SMPDB SMP:00139 NCBI chr 9:83,925,111...84,124,240
Ensembl chr 9:83,925,145...84,124,240
JBrowse link
G Dbt dihydrolipoamide branched chain transacylase E2 ISO SMPDB SMP:00139 NCBI chr 3:116,513,070...116,549,981
Ensembl chr 3:116,513,070...116,549,981
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00139 NCBI chr12:31,331,562...31,351,471
Ensembl chr12:31,331,277...31,351,453
JBrowse link
G Echs1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial ISO SMPDB SMP:00139 NCBI chr 7:140,105,710...140,116,421
Ensembl chr 7:140,105,710...140,116,476
JBrowse link
G Hibadh 3-hydroxyisobutyrate dehydrogenase ISO SMPDB SMP:00139 NCBI chr 6:52,546,230...52,640,300
Ensembl chr 6:52,546,228...52,640,389
JBrowse link
G Hibch 3-hydroxyisobutyryl-Coenzyme A hydrolase ISO SMPDB SMP:00139 NCBI chr 1:52,845,038...52,920,986
Ensembl chr 1:52,844,929...52,920,986
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO SMPDB SMP:00139 NCBI chr 4:135,946,448...135,962,668
Ensembl chr 4:135,946,448...135,962,617
JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 ISO SMPDB SMP:00139 NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO SMPDB SMP:00139 NCBI chr  X:152,001,896...152,004,442
Ensembl chr  X:152,001,845...152,004,442
JBrowse link
G Ivd isovaleryl coenzyme A dehydrogenase ISO SMPDB SMP:00139 NCBI chr 2:118,861,959...118,882,909
Ensembl chr 2:118,861,954...118,882,909
JBrowse link
G Mccc1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ISO SMPDB SMP:00139 NCBI chr 3:35,956,292...36,000,694
Ensembl chr 3:35,959,312...36,000,678
JBrowse link
G Mccc2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ISO SMPDB SMP:00139 NCBI chr13:99,948,532...100,015,639
Ensembl chr13:99,948,530...100,015,639
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO SMPDB SMP:00139 NCBI chr 7:64,392,622...64,412,121
Ensembl chr 7:64,392,607...64,412,125
JBrowse link
G Mmut methylmalonyl-Coenzyme A mutase ISO SMPDB SMP:00139 NCBI chr17:40,934,685...40,961,990
Ensembl chr17:40,934,685...40,961,988
JBrowse link
G Oxct1 3-oxoacid CoA transferase 1 ISO SMPDB SMP:00139 NCBI chr15:4,026,428...4,155,344
Ensembl chr15:4,026,383...4,155,344
JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO SMPDB SMP:00139 NCBI chr14:122,484,365...122,889,944
Ensembl chr14:122,534,324...122,891,100
JBrowse link
G Pccb propionyl Coenzyme A carboxylase, beta polypeptide ISO SMPDB SMP:00139 NCBI chr 9:100,982,032...101,034,940
Ensembl chr 9:100,982,032...101,034,898
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6067
    disease pathway 2094
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            3-methylglutaconic aciduria type 1 pathway 30
paths to the root