Seroatlas · Human Serome Atlas

IVD

Isovaleryl-CoA dehydrogenase, mitochondrial

Also known as: ACAD2, IVD_HUMAN, IVDH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P26440
Gene: IVD
Ensembl: ENSG00000128928
Chromosome: 15
Canonical length: 426 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria
Quaternary structure: Homotetramer

OverviewNCBI Gene

Isovaleryl-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 have been found for this gene. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

426 residues, UniProt reviewed canonical sequence.

>P26440|IVD
     1  MAEMATATRL LGWRVASWRL RPPLAGFVSQ RAHSLLPVDD AINGLSEEQR QLRQTMAKFL
    61  QEHLAPKAQE IDRSNEFKNL REFWKQLGNL GVLGITAPVQ YGGSGLGYLE HVLVMEEISR
   121  ASGAVGLSYG AHSNLCINQL VRNGNEAQKE KYLPKLISGE YIGALAMSEP NAGSDVVSMK
   181  LKAEKKGNHY ILNGNKFWIT NGPDADVLIV YAKTDLAAVP ASRGITAFIV EKGMPGFSTS
   241  KKLDKLGMRG SNTCELIFED CKIPAANILG HENKGVYVLM SGLDLERLVL AGGPLGLMQA
   301  VLDHTIPYLH VREAFGQKIG HFQLMQGKMA DMYTRLMACR QYVYNVAKAC DEGHCTAKDC
   361  AGVILYSAEC ATQVALDGIQ CFGGNGYIND FPMGRFLRDA KLYEIGAGTS EVRRLVIGRA
   421  FNADFH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IVD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 136 nTPM

Expression across tissuesHPA

Tissue

liver: 136 nTPM
thyroid gland: 98 nTPM
adrenal gland: 64 nTPM
kidney: 55 nTPM
tongue: 52 nTPM
heart muscle: 51 nTPM

Single-cell type

hepatocytes: 170 nCPM
alveolar cells type 2: 88 nCPM
adrenal medulla cells: 85 nCPM
retinal pigment epithelial cells: 81 nCPM
prostatic glandular cells: 78 nCPM
pituicytes/fscs: 75 nCPM

Immune cell

plasmacytoid DC: 90 nTPM
non-classical monocyte: 74 nTPM
myeloid DC: 59 nTPM
NK-cell: 40 nTPM
eosinophil: 37 nTPM
intermediate monocyte: 36 nTPM

Brain region

hypothalamus: 80 nTPM
white matter: 78 nTPM
medulla oblongata: 72 nTPM
basal ganglia: 72 nTPM
cerebral cortex: 71 nTPM
choroid plexus: 70 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IVD.

Disease | AllUniProt

Conditions IVD is implicated in, by any mechanism.

Isovaleric acidemia (IVA) MIM:243500

Disease | GeneticClinVar

175 pathogenic / likely-pathogenic of 843 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Isovaleryl-CoA dehydrogenase deficiency
Inborn genetic diseases
IVD-related disorder
Isovaleric acidemia, type I
Isovaleric acidemia, type III

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.35
gnomAD pLI: 0
gnomAD missense Z: 0.35
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

flavin adenine dinucleotide binding
identical protein binding
3-methylbutanoyl-CoA dehydrogenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads IVD as an antibody target. Whether an autoantibody or antibody against IVD could matter depends on whether native IVD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IVD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label IVD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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