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Aliases for ILVBL Gene

Aliases for ILVBL Gene

  • IlvB (Bacterial Acetolactate Synthase)-Like 2 3 5
  • Acetolactate Synthase Homolog 2 3
  • IlvB-Like Protein 3 4
  • AHAS 3 4
  • EC 2.2.1.- 4
  • EC 2.2.1 63
  • 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 (Bacterial Acetolactate Synthase)-Like) is a Protein Coding gene. Diseases associated with ILVBL include cadasil and sebaceous gland disease. GO annotations related to this gene include magnesium ion binding and thiamine pyrophosphate binding. An important paralog of this gene is HACL1.

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

Genomics for ILVBL Gene

Regulatory Elements for ILVBL Gene

Promoters for ILVBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ILVBL on UCSC Golden Path with GeneCards custom track

Genomic Location for ILVBL Gene

Chromosome:
19
Start:
15,114,974 bp from pter
End:
15,125,799 bp from pter
Size:
10,826 bases
Orientation:
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:
    A1L0T0-ILVBL_HUMAN
    Recommended name:
    Acetolactate synthase-like protein
    Protein Accession:
    A1L0T0
    Secondary Accessions:
    • O43341
    • Q96F08
    • Q99651
    • Q9BWN5
    • Q9UEB2

    Protein attributes for ILVBL Gene

    Size:
    632 amino acids
    Molecular mass:
    67868 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Proteomics data for ILVBL Gene at MOPED

Selected DME Specific Peptides for ILVBL Gene

Post-translational modifications for ILVBL Gene

  • Ubiquitination at Lys 577
  • Modification sites at PhosphoSitePlus

Other Protein References for ILVBL Gene

Antibody Products

Domains & Families for ILVBL Gene

Suggested Antigen Peptide Sequences for ILVBL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A1L0T0

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for ILVBL Gene

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:0005515 protein binding IPI 25416956
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

miRNA for ILVBL Gene

No data available for 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

COMPARTMENTS
Jensen Localization Image for ILVBL Gene COMPARTMENTS Subcellular localization image for ILVBL gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 2
cytosol 1
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ILVBL Gene

GO ID Qualified GO term Evidence PubMed IDs
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

None

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

Drugs & Compounds for ILVBL Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Threonine Approved Nutra 0
Pyruvic acid Approved Nutra 0
thiamin diphosphate Experimental Pharma 0
Magnesium Nutra 0

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

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-Acetolactate
  • (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
10055-47-7
2-Acetolactate
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:

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: - -
SP8:
SP9: - - - -
SP10: -
SP11:
SP12: - - - -

ExUns: 15a · 15b ^ 16a · 16b ^ 17
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ILVBL Gene

GeneLoc Exon Structure for
ILVBL
ECgene alternative splicing isoforms for
ILVBL

Expression for ILVBL Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ILVBL Gene



SOURCE GeneReport for Unigene cluster for ILVBL Gene Hs.78880

mRNA Expression by UniProt/SwissProt for ILVBL Gene

A1L0T0-ILVBL_HUMAN
Tissue specificity: Expressed in all tissues tested, with highest expression in heart, pancreas and placenta.
genes like me logo Genes that share expression patterns with ILVBL: view

Protein tissue co-expression partners for ILVBL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia ILVBL 35
  • 99.21 (n)
  • 99.53 (a)
ILVBL 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ILVBL 36
  • 89 (a)
OneToOne
ILVBL 35
  • 86.71 (n)
  • 89.56 (a)
dog
(Canis familiaris)
Mammalia ILVBL 35
  • 88.29 (n)
  • 92.09 (a)
ILVBL 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ilvbl 36
  • 86 (a)
OneToOne
Ilvbl 16
Ilvbl 35
  • 84.44 (n)
  • 86.39 (a)
oppossum
(Monodelphis domestica)
Mammalia ILVBL 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ILVBL 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ilvbl 35
  • 85.6 (n)
  • 87.5 (a)
chicken
(Gallus gallus)
Aves ILVBL 36
  • 49 (a)
OneToOne
LOC101747528 35
  • 62.1 (n)
  • 60.57 (a)
lizard
(Anolis carolinensis)
Reptilia ILVBL 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ilvbl 35
  • 62.9 (n)
  • 66.07 (a)
zebrafish
(Danio rerio)
Actinopterygii ilvbl 36
  • 65 (a)
OneToOne
ilvbl 35
  • 63.2 (n)
  • 65.26 (a)
zgc66376 35
worm
(Caenorhabditis elegans)
Secernentea T26C12.1 35
  • 56.18 (n)
  • 56.97 (a)
T26C12.1 37
  • 56 (a)
T26C12.1 36
  • 53 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9413 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8376 36
  • 59 (a)
OneToOne
Species with no ortholog for ILVBL:
  • 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

ENSEMBL:
Gene Tree for ILVBL (if available)
TreeFam:
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 Sequence Context AA Info Type
rs17856373 - 15,117,947(+) ACGAT(C/T)GACGA reference, missense
rs35548653 - 15,116,014(+) CTGGC(C/T)GGCAC reference, missense
rs1476527 -- 15,126,132(+) tatgt(A/G)tattt upstream-variant-2KB
rs2074264 -- 15,119,843(+) ACCGC(A/G)TCCAG intron-variant
rs2074267 -- 15,125,531(+) AACCC(A/C)CGCCT intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1058e1 CNV Complex 17122850
nsv911130 CNV Loss 21882294
esv34154 CNV Loss 18971310
nsv9668 CNV Gain 18304495

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)

Relevant External Links for ILVBL Gene

HapMap Linkage Disequilibrium report
ILVBL
Human Gene Mutation Database (HGMD)
ILVBL

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

Disorders for ILVBL Gene

MalaCards: The human disease database

(2) MalaCards diseases for ILVBL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cadasil
  • cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
sebaceous gland disease
  • sebaceous gland diseases
- elite association - COSMIC cancer census association via MalaCards
Search ILVBL in MalaCards View complete list of genes associated with diseases

Relevant External Links for ILVBL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ILVBL
genes like me logo Genes that share disorders with ILVBL: view

No data available for 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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress. (PMID: 24797263) Tong J. … Moran M.F. (Mol. Cell Proteomics 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ILVBL Gene

Sources for ILVBL Gene

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