Seroatlas · Human Serome Atlas

HIBADH

3-hydroxyisobutyrate dehydrogenase, mitochondrial

Also known as: 3HIDH_HUMAN, NS5ATP1

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

Protein identityUniProt · HPA

UniProt accession: P31937
Gene: HIBADH
Ensembl: ENSG00000106049
Chromosome: 7
Canonical length: 336 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

336 residues, UniProt reviewed canonical sequence.

>P31937|HIBADH
     1  MAASLRLLGA ASGLRYWSRR LRPAAGSFAA VCSRSVASKT PVGFIGLGNM GNPMAKNLMK
    61  HGYPLIIYDV FPDACKEFQD AGEQVVSSPA DVAEKADRII TMLPTSINAI EAYSGANGIL
   121  KKVKKGSLLI DSSTIDPAVS KELAKEVEKM GAVFMDAPVS GGVGAARSGN LTFMVGGVED
   181  EFAAAQELLG CMGSNVVYCG AVGTGQAAKI CNNMLLAISM IGTAEAMNLG IRLGLDPKLL
   241  AKILNMSSGR CWSSDTYNPV PGVMDGVPSA NNYQGGFGTT LMAKDLGLAQ DSATSTKSPI
   301  LLGSLAHQIY RMMCAKGYSK KDFSSVFQFL REEETF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HIBADH 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): 0.32
Highest tissue expression: 190 nTPM

Expression across tissuesHPA

Tissue

tongue: 190 nTPM
liver: 185 nTPM
kidney: 150 nTPM
skeletal muscle: 110 nTPM
parathyroid gland: 92 nTPM
adrenal gland: 82 nTPM

Single-cell type

syncytiotrophoblasts: 633 nCPM
breast lactating cells: 396 nCPM
cytotrophoblasts: 337 nCPM
myonuclei: 328 nCPM
parietal cells: 311 nCPM
distal convoluted tubule cells: 300 nCPM

Immune cell

naive CD4 T-cell: 24 nTPM
NK-cell: 23 nTPM
intermediate monocyte: 23 nTPM
MAIT T-cell: 23 nTPM
non-classical monocyte: 22 nTPM
naive CD8 T-cell: 20 nTPM

Brain region

choroid plexus: 51 nTPM
cerebellum: 32 nTPM
hypothalamus: 31 nTPM
basal ganglia: 30 nTPM
thalamus: 30 nTPM
midbrain: 29 nTPM

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): 0.83
gnomAD pLI: 0.01
gnomAD missense Z: 0.13
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

L-valine catabolic process

Molecular functions

NAD binding
NADP binding
3-hydroxyisobutyrate dehydrogenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

6-phosphogluconate dehydrogenase, NADP-binding
6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
6-phosphogluconate dehydrogenase, domain 2
3-hydroxyisobutyrate dehydrogenase-like, NAD-binding domain
NAD(P)-binding domain superfamily
NAD binding domain of 6-phosphogluconate dehydrogenase
NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase
3-hydroxyisobutyrate dehydrogenase-related, conserved site
3-hydroxyisobutyrate dehydrogenase
3-hydroxyisobutyrate dehydrogenase-related

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

HIBADH 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 HIBADH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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