Property Summary

NCBI Gene PubMed Count 34
PubMed Score 1224.30
PubTator Score 89.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.360 1.4e-06
pancreatic ductal adenocarcinoma liver m... -1.649 5.4e-04
pilocytic astrocytoma 1.100 3.7e-06
lung carcinoma 1.100 9.0e-21
ovarian cancer 1.400 4.4e-06

Protein-protein Interaction (5)

Gene RIF (11)

PMID Text
26018748 Our results have illustrated the heterogeneous mutation spectrum and clinical presentation of IVA in the Japanese patients
25450250 kinetics and ligand binding of isovaleryl-CoA dehydrogenase
23063737 study reports the first Saudi isovaleric acidemia patients from a consanguineous family with a novel transversion (p.G362V) and briefly discuss likely phenotype-genotype correlation of the disease in the Saudi population
22960500 A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates.
22350545 All were homozygous for a single c.367 G > A (p.G123R) mutation. Despite the genetic homogeneity of this South African group, the clinical presentation varied, ranging from mental handicap and episodes of metabolic derangement to an asymptomatic state
20877624 Observational study of gene-disease association. (HuGE Navigator)
20519759 A child with isovaleric acidemia was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. The former may be a founder mutation in the Chinese population.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
17576084 Mutations of isovaleryl-CoA dehydrogenase gene is associated with isovaleric acidemia
16376132 Replacement of the catalytic glutamate in either short-chain acyl-CoA dehydrogenase (SCAD) or isovaleryl-CoA dehydrogenase (IVD)with glycine resulted in a several-fold reduction in affinity for substrate.

AA Sequence

MATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDR      1 - 70
SNEFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRN     71 - 140
GNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAK    141 - 210
TDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGL    211 - 280
DLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEG    281 - 350
HCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNA    351 - 420
DFH                                                                       421 - 423
//

Text Mined References (41)

PMID Year Title
26018748 2015 Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25450250 2015 Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23587913 2013 Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23063737 2013 Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
22960500 2012 Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
22350545 2012 Clinical variability of isovaleric acidemia in a genetically homogeneous population.
22004070 2011 Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20519759 2010 A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
17576084 Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16376132 2006 Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11606439 2001 Thyroid peroxidase autoantibodies obtained from random single chain FV libraries contain the same heavy/light chain combinations as occur in vivo.
10713113 2000 Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.
10677295 2000 Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
9665741 1998 Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
9214289 1997 Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8468053 1993 Structural organization of the human isovaleryl-CoA dehydrogenase gene.
8162068 1994 A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG.
7640268 1995 Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase.
6401713 1983 Purification and characterization of isovaleryl coenzyme A dehydrogenase from rat liver mitochondria.
3597357 1987 Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver.
3446585 1987 Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15.
2318964 1990 Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.
2063866 1991 Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
1310317 1992 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.