LMPD Database

LMP005644

Record overview

LMPD IDLMP005644
Gene ID3712
SpeciesHomo sapiens (Human)
Gene Nameisovaleryl-CoA dehydrogenase
Gene SymbolIVD
SynonymsACAD2
Alternate namesisovaleryl-CoA dehydrogenase, mitochondrial; isovaleryl CoA dehydrogenase; isovaleryl Coenzyme A dehydrogenase
Chromosome15
Map Location15q14-q15
EC Number1.3.8.4
SummaryIsovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
OrthologsView orthologs and multiple alignments for IVD

Proteins

isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor
Refseq ID:NP_002216
Protein GI:226958412
UniProt ID:P26440
mRNA ID:NM_002225
Length:426
RefSeq Status:REVIEWED
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPVQ
YGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWIT
NGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQA
VLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDA
KLYEIGAGTSEVRRLVIGRAFNADFH
 
transit_peptide: 1..29
calculated_mol_wt: 3245
peptide sequence: 
MAEMATATRLLGWRVASWRLRPPLAGFVS

mat_peptide: 30..396
product: isovaleryl-CoA dehydrogenase, mitochondrial isoform 2
calculated_mol_wt: 39829
peptide sequence: 
QRAHSLLPVDDAINGLSEEQRQEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISG
EYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFE
DCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKD
CAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH transit_peptide: 1..29 calculated_mol_wt: 3245 peptide sequence: MAEMATATRLLGWRVASWRLRPPLAGFVS mat_peptide: 30..426 product: isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 calculated_mol_wt: 43424 peptide sequence: QRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSY
GAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFI
VEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKM
ADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH
 
isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor
Refseq ID:NP_001152980
Protein GI:226958414
UniProt ID:P26440
mRNA ID:NM_001159508
Length:396
RefSeq Status:REVIEWED
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQEFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYG
AHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIV
EKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMA
DMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH