Seroatlas · Human Serome Atlas

ILVBL

2-hydroxyacyl-CoA lyase 2

Also known as: 209L8, AHAS, FLJ39061, HACL1L, HACL2_HUMAN, ILV2H, MGC1269, MGC19535

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

Protein identityUniProt · HPA

UniProt accession: A1L0T0
Gene: ILVBL
Ensembl: ENSG00000105135
Chromosome: 19
Canonical length: 632 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus,Vesicles

OverviewNCBI Gene

The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

632 residues, UniProt reviewed canonical sequence.

>A1L0T0|ILVBL
     1  METPAAAAPA GSLFPSFLLL ACGTLVAALL GAAHRLGLFY QLLHKVDKAS VRHGGENVAA
    61  VLRAHGVRFI FTLVGGHISP LLVACEKLGI RVVDTRHEVT AVFAADAMAR LSGTVGVAAV
   121  TAGPGLTNTV TAVKNAQMAQ SPILLLGGAA STLLQNRGAL QAVDQLSLFR PLCKFCVSVR
   181  RVRDIVPTLR AAMAAAQSGT PGPVFVELPV DVLYPYFMVQ KEMVPAKPPK GLVGRVVSWY
   241  LENYLANLFA GAWEPQPEGP LPLDIPQASP QQVQRCVEIL SRAKRPLMVL GSQALLTPTS
   301  ADKLRAAVET LGVPCFLGGM ARGLLGRNHP LHIRENRSAA LKKADVIVLA GTVCDFRLSY
   361  GRVLSHSSKI IIVNRNREEM LLNSDIFWKP QEAVQGDVGS FVLKLVEGLQ GQTWAPDWVE
   421  ELREADRQKE QTFREKAAMP VAQHLNPVQV LQLVEETLPD NSILVVDGGD FVGTAAHLVQ
   481  PRGPLRWLDP GAFGTLGVGA GFALGAKLCR PDAEVWCLFG DGAFGYSLIE FDTFVRHKIP
   541  VMALVGNDAG WTQISREQVP SLGSNVACGL AYTDYHKAAM GLGARGLLLS RENEDQVVKV
   601  LHDAQQQCRD GHPVVVNILI GRTDFRDGSI AV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ILVBL 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: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 70 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 70 nTPM
parathyroid gland: 62 nTPM
liver: 54 nTPM
duodenum: 47 nTPM
thyroid gland: 45 nTPM
adrenal gland: 44 nTPM

Single-cell type

syncytiotrophoblasts: 366 nCPM
extravillous trophoblasts: 202 nCPM
melanocytes: 148 nCPM
esophageal apical cells: 114 nCPM
enterocytes: 113 nCPM
migrating cytotrophoblasts: 110 nCPM

Immune cell

intermediate monocyte: 32 nTPM
non-classical monocyte: 31 nTPM
myeloid DC: 26 nTPM
MAIT T-cell: 24 nTPM
NK-cell: 24 nTPM
naive CD8 T-cell: 24 nTPM

Brain region

choroid plexus: 53 nTPM
white matter: 51 nTPM
cerebellum: 49 nTPM
medulla oblongata: 46 nTPM
basal ganglia: 42 nTPM
pons: 39 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): 0.91
gnomAD pLI: 0
gnomAD missense Z: 0.82
DepMap mean gene effect: -0.09
DepMap dependency class: selective

OntologyGO

Biological processes

Molecular functions

Cellular components

endoplasmic reticulum membrane
membrane
acetolactate synthase complex

Protein domainsUniProt · Pfam · InterPro

Thiamine pyrophosphate enzyme, TPP-binding
Thiamine pyrophosphate enzyme, central domain
Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain
DHS-like NAD/FAD-binding domain superfamily
Thiamin diphosphate-binding fold
Thiamine pyrophosphate enzyme, central domain
Thiamine pyrophosphate enzyme, C-terminal TPP binding domain
Thiamine pyrophosphate enzyme, N-terminal TPP binding domain
TPP-binding enzyme, conserved site
Thiamine pyrophosphate enzyme

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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