Isovaleryl-CoA dehydrogenase, mitochondrial

Details

Name
Isovaleryl-CoA dehydrogenase, mitochondrial
Synonyms
  • 1.3.8.4
  • IVD
Gene Name
IVD
Organism
Humans
Amino acid sequence
>lcl|BSEQ0000791|Isovaleryl-CoA dehydrogenase, mitochondrial
MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEH
LAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASG
AVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKA
EKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKL
DKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLD
HTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGV
ILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNA
DFH
Number of residues
423
Molecular Weight
46319.05
Theoretical pI
8.31
GO Classification
Functions
electron carrier activity / fatty-acyl-CoA binding / flavin adenine dinucleotide binding / isovaleryl-CoA dehydrogenase activity / oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor
Processes
branched-chain amino acid catabolic process / cellular nitrogen compound metabolic process / fatty acid beta-oxidation using acyl-CoA dehydrogenase / leucine catabolic process / lipid homeostasis / small molecule metabolic process
Components
mitochondrial matrix
General Function
Oxidoreductase activity, acting on the ch-ch group of donors, with a flavin as acceptor
Specific Function
Not Available
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Mitochondrion matrix
Gene sequence
>lcl|BSEQ0010276|Isovaleryl-CoA dehydrogenase, mitochondrial (IVD)
ATGGCAGAGATGGCGACTGCGACTCGGCTGCTGGGGTGGCGTGTGGCGAGCTGGAGGCTG
CGGCCGCCGCTTGCCGGCTTCGTTTCCCAGCGGGCCCACTCGCTTTTGCCCGTGGACGAT
GCAATCAATGGGCTAAGCGAGGAGCAGAGGCAGGAATTTTGGAAGCAGCTGGGGAACCTG
GGCGTATTGGGCATCACAGCCCCTGTTCAGTATGGCGGCTCCGGCCTGGGCTACCTGGAG
CATGTGCTGGTGATGGAGGAGATATCCCGAGCTTCCGGAGCAGTGGGGCTCAGTTACGGT
GCCCACTCCAACCTCTGCATCAACCAGCTTGTACGCAATGGGAATGAGGCCCAGAAAGAG
AAGTATCTCCCGAAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCC
AATGCAGGCTCTGATGTTGTCTCTATGAAGCTCAAAGCGGAAAAGAAAGGAAATCACTAC
ATCCTGAATGGCAACAAGTTCTGGATCACTAATGGCCCTGATGCTGACGTCCTGATTGTC
TATGCCAAGACAGATCTGGCTGCTGTGCCAGCTTCTCGGGGCATCACAGCCTTCATTGTG
GAGAAGGGTATGCCTGGCTTTAGCACCTCTAAGAAGCTGGACAAGCTGGGGATGAGGGGC
TCTAACACCTGTGAGCTAATCTTTGAAGACTGCAAGATTCCTGCTGCCAACATCCTGGGC
CATGAGAATAAGGGTGTCTACGTGCTGATGAGTGGGCTGGACCTGGAGCGGCTGGTGCTG
GCCGGGGGGCCTCTTGGGCTCATGCAAGCGGTCCTGGACCACACCATTCCCTACCTGCAC
GTGAGGGAAGCCTTTGGCCAGAAGATCGGCCACTTCCAGTTGATGCAGGGGAAGATGGCT
GACATGTACACCCGCCTCATGGCGTGTCGGCAGTATGTCTACAATGTCGCCAAGGCCTGC
GATGAGGGCCATTGCACTGCTAAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGT
GCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGGCAATGGCTACATCAATGAC
TTTCCCATGGGCCGCTTTCTTCGAGATGCCAAGCTGTATGAGATAGGGGCTGGGACCAGC
GAGGTGAGGCGGCTGGTCATCGGCAGAGCCTTCAATGCAGACTTTCACTAG
Chromosome Location
15
Locus
15q14-q15
External Identifiers
ResourceLink
UniProtKB IDP26440
UniProtKB Entry NameIVD_HUMAN
GenBank Protein ID306897
GenBank Gene IDM34192
GenAtlas IDIVD
HGNC IDHGNC:6186
General References
  1. Matsubara Y, Ito M, Glassberg R, Satyabhama S, Ikeda Y, Tanaka K: Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. J Clin Invest. 1990 Apr;85(4):1058-64. [Article]
  2. Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W: Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am J Hum Genet. 2000 Feb;66(2):356-67. [Article]
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  6. Parimoo B, Tanaka K: Structural organization of the human isovaleryl-CoA dehydrogenase gene. Genomics. 1993 Mar;15(3):582-90. [Article]
  7. Vockley J, Nagao M, Parimoo B, Tanaka K: The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors. J Biol Chem. 1992 Feb 5;267(4):2494-501. [Article]
  8. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [Article]
  9. Mohsen AW, Vockley J: Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase. Biochemistry. 1995 Aug 15;34(32):10146-52. [Article]
  10. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [Article]
  11. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
  12. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [Article]
  13. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
  14. Tiffany KA, Roberts DL, Wang M, Paschke R, Mohsen AW, Vockley J, Kim JJ: Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,. Biochemistry. 1997 Jul 15;36(28):8455-64. [Article]
  15. Vockley J, Parimoo B, Tanaka K: Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. Am J Hum Genet. 1991 Jul;49(1):147-57. [Article]
  16. Mohsen AW, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJ, Vockley J: Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry. 1998 Jul 14;37(28):10325-35. [Article]
  17. Vatanavicharn N, Liammongkolkul S, Sakamoto O, Sathienkijkanchai A, Wasant P: Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. Pediatr Int. 2011 Dec;53(6):990-4. doi: 10.1111/j.1442-200X.2011.03488.x. [Article]
  18. Dercksen M, Duran M, Ijlst L, Mienie LJ, Reinecke CJ, Ruiter JP, Waterham HR, Wanders RJ: Clinical variability of isovaleric acidemia in a genetically homogeneous population. J Inherit Metab Dis. 2012 Nov;35(6):1021-9. doi: 10.1007/s10545-012-9457-2. Epub 2012 Feb 17. [Article]
  19. Bei F, Sun JH, Yu YG, Jia J, Zheng ZJ, Fu QH, Cai W: Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. Gene. 2013 Jul 25;524(2):396-400. doi: 10.1016/j.gene.2013.03.139. Epub 2013 Apr 12. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB03147Flavin adenine dinucleotideapprovedunknownDetails
DB04036Coenzyme A persulfideexperimentalunknownDetails