ILVBL Gene Summary [Human]

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]

Details

Type
Retained Intron
Official Symbol
ILVBL
Official Name
ilvB acetolactate synthase like [Source:HGNC Symbol;Acc:HGNC:6041]
Ensembl ID
ENSG00000105135
Bio databases IDs NCBI: 10994 Ensembl: ENSG00000105135
Aliases ilvB acetolactate synthase like, acetolactate synthase homolog, 2-hydroxyacyl-CoA lyase 1 like
Synonyms 209L8, 5830463I21, AHAS, HACL1L, HACL2, ILV2H, ilvB acetolactate synthase like, ilvB (bacterial acetolactate synthase)-like
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ILVBL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Thiamine pyrophosphate enzyme, C-terminal TPP binding domain
  • Thiamine pyrophosphate enzyme, central domain
  • TPP_enzymes
  • acetolactate synthase, large subunit, biosynthetic type
  • enzyme
  • protein binding
  • acetolactate synthase, catabolic
  • thiamine pyrophosphate-dependent enzyme pyrimidine binding domain
  • Thiamine pyrophosphate enzyme, N-terminal TPP binding domain
  • pyruvate oxidase
  • acetolactate synthase large subunit

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cutaneous melanoma
  • cutaneous melanoma cancer
regulated by
  • dexamethasone
  • RGS2
  • dimethyl n-oxalyl-glycine
  • CD8+ T lymphocyte
  • IL2RG
regulates
  • fatty acid

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • pH resistant lipid raft fraction
  • endoplasmic reticulum membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ILVBL gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • isoleucine biosynthetic process
  • valine biosynthetic process
  • fatty acid alpha-oxidation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • acetolactate synthase complex
  • membrane

Molecular Function

What the gene product does at the molecular level
  • thiamine pyrophosphate binding
  • magnesium ion binding
  • acetolactate synthase activity
  • protein binding
  • flavin adenine dinucleotide binding
  • lyase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.