IVD
entrez
3712
canonical
uniprot
P26440
canonical
ensembl
ENSG00000128928
resolver
ensp
ENSP00000417990
resolver
ensp
ENSP00000418397
resolver
ensp
ENSP00000664188
resolver
ensp
ENSP00000715368
resolver
ensp
ENSP00000761224
resolver
ensp
ENSP00000761225
resolver
ensp
ENSP00000761227
resolver
ensp
ENSP00000798236
resolver
enst
ENST00000479013
resolver
enst
ENST00000487418
resolver
genesymbol
IVD
resolver
hgnc
HGNC:6186
resolver
uniprot
A0A0A0MT83
resolver
uniprot
A0A0S2Z422
resolver
uniprot
A0A0S2Z4K7
resolver
uniprot
A0A499FJ05
resolver
uniprot
A0ACM8RFH8
resolver
uniprot
B2RCV5
resolver
uniprot
B3KVI7
resolver
uniprot
J3KR54
resolver
uniprot
Q53XZ9
resolver
uniprot
Q96AF6
resolver
uniprot_entry
A0A0A0MT83_HUMAN
resolver
uniprot_entry
A0A0S2Z4K7_HUMAN
resolver
uniprot_entry
A0A499FJ05_HUMAN
resolver
uniprot_entry
A0ACM8RFH8_HUMAN
resolver
uniprot_entry
IVD_HUMAN
resolver
uniprot_sec
A0A0S2Z422
resolver
uniprot_sec
B2RCV5
resolver
uniprot_sec
B3KVI7
resolver
uniprot_sec
J3KR54
resolver
uniprot_sec
Q53XZ9
resolver
uniprot_sec
Q96AF6
resolver
amino_acid_sequence
MAEMATATRLLGWRVASWRLRPPLAGFVSQRAHSLLPVDDAINGLSEEQRQLRQTMAKFLQEHLAPKAQEIDRSNEFKNLREFWKQLGNLGVLGITAPVQYGGSGLGYLEHVLVMEEISRASGAVGLSYGAHSNLCINQLVRNGNEAQKEKYLPKLISGEYIGALAMSEPNAGSDVVSMKLKAEKKGNHYILNGNKFWITNGPDADVLIVYAKTDLAAVPASRGITAFIVEKGMPGFSTSKKLDKLGMRGSNTCELIFEDCKIPAANILGHENKGVYVLMSGLDLERLVLAGGPLGLMQAVLDHTIPYLHVREAFGQKIGHFQLMQGKMADMYTRLMACRQYVYNVAKACDEGHCTAKDCAGVILYSAECATQVALDGIQCFGGNGYINDFPMGRFLRDAKLYEIGAGTSEVRRLVIGRAFNADFH
uniprot
proteins
disease_involvement
DISEASE: Isovaleric acidemia (IVA) [MIM:243500]: A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. {ECO:0000269|PubMed:2063866, ECO:0000269|PubMed:22004070, ECO:0000269|PubMed:22350545, ECO:0000269|PubMed:23587913, ECO:0000269|PubMed:28535199, ECO:0000269|PubMed:9665741}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.8.1
uniprot
proteins
ec_number
1.3.8.4
uniprot
proteins
function
FUNCTION: A mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism, where isovaleryl-CoA (3-methylbutanoyl-CoA) is metabolized to 3-methylbut-2-enoyl-CoA (PubMed:7640268). To a lesser extent, it also participates in the first step in fatty acid beta-oxidation, in which it catalyzes the proR-proR stereospecific alpha,beta-dehydrogenation of other saturated short-chain acyl-CoA thioesters such as pentanoyl-CoA, hexanoyl-CoA and butanoyl-CoA, using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor(PubMed:7640268). {ECO:0000269|PubMed:7640268}.
uniprot
proteins
mass_dalton
46651
uniprot
proteins
mutagenesis
MUTAGEN 286; /note="E->D: Residual isovaleryl-CoA dehydrogenase activity."; /evidence="ECO:0000269|PubMed:7640268"; MUTAGEN 286; /note="E->G: Loss of isovaleryl-CoA dehydrogenase activity. Does not affect isovaleryl-CoA dehydrogenase activity; when associated with 407-E."; /evidence="ECO:0000269|PubMed:7640268"; MUTAGEN 286; /note="E->Q: Loss of isovaleryl-CoA dehydrogenase activity."; /evidence="ECO:0000269|PubMed:7640268"; MUTAGEN 407; /note="A->E: Does not affect isovaleryl-CoA dehydrogenase activity; when associated with 286-D."; /evidence="ECO:0000269|PubMed:7640268
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3.
uniprot
proteins
protein_family
Acyl-CoA dehydrogenase family
uniprot
proteins
pubmed
10677295
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
1310317
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2063866
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22004070
uniprot
proteins
pubmed
22350545
uniprot
proteins
pubmed
2318964
uniprot
proteins
pubmed
23587913
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28535199
uniprot
proteins
pubmed
7640268
uniprot
proteins
pubmed
8468053
uniprot
proteins
pubmed
9214289
uniprot
proteins
pubmed
9665741
uniprot
proteins
sequence_length
426
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P12007}.
uniprot
proteins