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Aliases for ILVBL Gene

Aliases for ILVBL Gene

  • IlvB Acetolactate Synthase Like 2 3 5
  • IlvB (Bacterial Acetolactate Synthase)-Like 2 3
  • 2-Hydroxyacyl-CoA Lyase 1 Like 2 3
  • Acetolactate Synthase Homolog 2 3
  • IlvB-Like Protein 3 4
  • AHAS 3 4
  • Acetolactate Synthase-Like Protein 3
  • EC 2.2.1.- 4
  • EC 2.2.1 56
  • HACL1L 3
  • 209L8 3
  • ILV2H 3

External Ids for ILVBL Gene

Previous GeneCards Identifiers for ILVBL Gene

  • GC19M015604
  • GC19M015070
  • GC19M015087
  • GC19M015088
  • GC19M015225
  • GC19M014793

Summaries for ILVBL Gene

Entrez Gene Summary for ILVBL 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]

GeneCards Summary for ILVBL Gene

ILVBL (IlvB Acetolactate Synthase Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and thiamine pyrophosphate binding. An important paralog of this gene is HACL1.

Additional gene information for ILVBL Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ILVBL Gene

Genomics for ILVBL Gene

GeneHancer (GH) Regulatory Elements for ILVBL Gene

Promoters and enhancers for ILVBL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I015123 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 557.3 +0.5 547 3.7 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ILVBL ENSG00000268564 AKAP8 BRD4 ZNF333 TPM4 AKAP8L DDX39A OR1I1 ADGRL1
GH19I015135 Enhancer 0.7 ENCODE 7 -10.3 -10295 1.9 NCOA3 CLOCK NFIB NEUROD1 BMI1 CTBP1 ZNF766 GATA3 FOSL2 RCOR1 SYDE1 EPHX3 SLC1A6 CCDC105 OR7A10 OR7C1 ILVBL OR10B1P
GH19I015137 Enhancer 0.3 ENCODE 6.8 -12.6 -12594 2.2 FOS SYDE1 EPHX3 CCDC105 SLC1A6 OR7A10 OR7C1 ILVBL OR10B1P
GH19I014441 Enhancer 0.2 ENCODE 5 +684.0 684002 0.4 ILVBL PKN1 ENSG00000267474
GH19I015129 Enhancer 0.6 ENCODE 0.8 -4.6 -4605 1.9 SMARCE1 ZNF687 NEUROD1 DPF2 ZNF592 FOXA1 ZNF217 CTBP1 JUND GATA3 SYDE1 OR7C1 ADGRE2 ILVBL OR10B1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ILVBL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ILVBL gene promoter:

Genomic Locations for ILVBL Gene

Genomic Locations for ILVBL Gene
10,826 bases
Minus strand

Genomic View for ILVBL Gene

Genes around ILVBL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ILVBL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ILVBL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ILVBL Gene

Proteins for ILVBL Gene

  • Protein details for ILVBL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Acetolactate synthase-like protein
    Protein Accession:
    Secondary Accessions:
    • O43341
    • Q96F08
    • Q99651
    • Q9BWN5
    • Q9UEB2

    Protein attributes for ILVBL Gene

    632 amino acids
    Molecular mass:
    67868 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    • Sequence=AAC18916.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH00109.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=AAI26914.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI26914.1; Type=Miscellaneous discrepancy; Note=Sequence of unknown origin at the C-terminus.; Evidence={ECO:0000305};

neXtProt entry for ILVBL Gene

Selected DME Specific Peptides for ILVBL Gene


Post-translational modifications for ILVBL Gene

Domains & Families for ILVBL Gene

Gene Families for ILVBL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ILVBL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TPP enzyme family.
  • Belongs to the TPP enzyme family.
genes like me logo Genes that share domains with ILVBL: view

Function for ILVBL Gene

Molecular function for ILVBL Gene

GENATLAS Biochemistry:
bacterial acetolactate synthase-like,putatively involved in the branched chain aminoacid biosynthetic pathway

Enzyme Numbers (IUBMB) for ILVBL Gene

Gene Ontology (GO) - Molecular Function for ILVBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ILVBL: view
genes like me logo Genes that share phenotypes with ILVBL: view

Animal Model Products

CRISPR Products

miRNA for ILVBL Gene

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ILVBL Gene

Localization for ILVBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ILVBL Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ILVBL gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ILVBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ILVBL: view

Pathways & Interactions for ILVBL Gene

SuperPathways for ILVBL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ILVBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ILVBL: view

No data available for Pathways by source and SIGNOR curated interactions for ILVBL Gene

Drugs & Compounds for ILVBL Gene

(7) Drugs for ILVBL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Threonine Approved Nutra 0
Magnesium Approved Nutra 0
Pyruvic acid Approved, Investigational Nutra 0

(11) Additional Compounds for ILVBL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-2-Aceto-2-hydroxybutanoic acid
  • (2S)-2-ethyl-2-hydroxy-3-oxobutanoate
  • (2S)-2-ethyl-2-hydroxy-3-oxobutanoic acid
  • (S)-2-Aceto-2-hydroxybutanoate
  • (S)-2-Aceto-2-hydroxybutanoic acid
  • (S)-2-Hydroxy-2-ethyl-3-oxobutanoate
  • (S)-2-Hydroxy-2-methyl-3-oxobutanoate
  • (S)-2-Hydroxy-2-methyl-3-oxobutanoic acid
2-(a-Hydroxyethyl)thiamine diphosphate
  • 2-(alpha-Hydroxyethyl)thiamine diphosphate
  • 2-Hydroxyethyl-ThPP
  • 3-[(4-Amino-2-methyl-5-pyrimidinyl)methyl]-2-(1-hydroxyethyl)-4-methyl-5-(4,6,6-trihydroxy-3,5-dioxa-4,6-diphosphahex-1-yl)- P,P'-dioxide
  • 3-[(4-Amino-2-methyl-5-pyrimidinyl)methyl]-2-(1-hydroxyethyl)-5-(2-hydroxyethyl)-4-methyl- 5-(trihydrogen pyrophosphate) (8CI)
  • Thiazolium
Thiamine pyrophosphate
  • Thaimine pyrophosphate
  • Thiamin diphosphate
  • Thiamin pyrophosphate
  • Thiamin-PPi
  • Thiamine diphosphate
genes like me logo Genes that share compounds with ILVBL: view

Transcripts for ILVBL Gene

Unigene Clusters for ILVBL Gene

IlvB (bacterial acetolactate synthase)-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ILVBL Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - -
SP6: - - -
SP7: - -
SP9: - - - -
SP10: -
SP12: - - - -

ExUns: 15a · 15b ^ 16a · 16b ^ 17
SP1: -

Relevant External Links for ILVBL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ILVBL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ILVBL Gene

Protein differential expression in normal tissues from HIPED for ILVBL Gene

This gene is overexpressed in Nasal epithelium (43.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ILVBL Gene

Protein tissue co-expression partners for ILVBL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ILVBL Gene:


SOURCE GeneReport for Unigene cluster for ILVBL Gene:


mRNA Expression by UniProt/SwissProt for ILVBL Gene:

Tissue specificity: Expressed in all tissues tested, with highest expression in heart, pancreas and placenta.

Evidence on tissue expression from TISSUES for ILVBL Gene

  • Nervous system(4.6)
  • Pancreas(4.2)
  • Skin(2.8)
genes like me logo Genes that share expression patterns with ILVBL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ILVBL Gene

Orthologs for ILVBL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ILVBL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ILVBL 33 34
  • 99.21 (n)
(Canis familiaris)
Mammalia ILVBL 33 34
  • 88.29 (n)
(Bos Taurus)
Mammalia ILVBL 33 34
  • 86.71 (n)
(Rattus norvegicus)
Mammalia Ilvbl 33
  • 85.6 (n)
(Mus musculus)
Mammalia Ilvbl 33 16 34
  • 84.44 (n)
(Monodelphis domestica)
Mammalia ILVBL 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia ILVBL 34
  • 51 (a)
(Gallus gallus)
Aves LOC101747528 33
  • 62.1 (n)
  • 49 (a)
(Anolis carolinensis)
Reptilia ILVBL 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ilvbl 33
  • 62.9 (n)
(Danio rerio)
Actinopterygii ilvbl 33 34
  • 63.2 (n)
zgc66376 33
(Caenorhabditis elegans)
Secernentea T26C12.1 35 33 34
  • 56.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8376 34
  • 59 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9413 33
Species where no ortholog for ILVBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ILVBL Gene

Gene Tree for ILVBL (if available)
Gene Tree for ILVBL (if available)

Paralogs for ILVBL Gene

Paralogs for ILVBL Gene

(1) SIMAP similar genes for ILVBL Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ILVBL: view

Variants for ILVBL Gene

Sequence variations from dbSNP and Humsavar for ILVBL Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000164561 -- 15,117,713(-) A/G intron_variant
rs1000201223 -- 15,123,460(-) G/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1000820197 -- 15,123,301(-) G/C intron_variant
rs1001052542 -- 15,124,542(-) C/G intron_variant
rs1001483880 -- 15,122,704(-) T/C/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ILVBL Gene

Variant ID Type Subtype PubMed ID
nsv9668 CNV gain 18304495
esv34154 CNV loss 18971310
esv2758746 CNV gain 17122850

Variation tolerance for ILVBL Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.11; 61.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ILVBL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ILVBL Gene

Disorders for ILVBL Gene

Additional Disease Information for ILVBL

No disorders were found for ILVBL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ILVBL Gene

Publications for ILVBL Gene

  1. A human homolog of bacterial acetolactate synthase genes maps within the CADASIL critical region. (PMID: 8954801) Joutel A … Tournier-Lasserve E (Genomics 1996) 2 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for ILVBL Gene

Sources for ILVBL Gene

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