1. Gene
  2. ILVBL - ilvB acetolactate synthase like Gene

ILVBL - ilvB acetolactate synthase like Gene

Homo sapiens

Also known as AHAS; 209L8; ILV2H; HACL1L

Gene ID: 10994 | Gene type: protein coding

About ILVBL

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:15,114,987-15,125,786 (from NCBI)

This gene has 14 transcripts (splice variants), 203 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 24.2), thyroid (RPKM 18.4) and 25 other tissues.

Summary

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]

ILVBL Products(1)

mRNA Protein Name
NM_006844.5 NP_006835.2 2-hydroxyacyl-CoA lyase 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in fatty acid alpha-oxidation IDA
IDA: Inferred from direct assay
28289220 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
28289220 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ILVBL Protein Structure

TPP_enzyme_N

TPP_enzyme_N: Thiamine pyrophosphate enzyme, N-terminal TPP binding domain (53 - 214)

TPP_enzyme_M

TPP_enzyme_M: Thiamine pyrophosphate enzyme, central domain (273 - 403)

TPP_enzyme_C

TPP_enzyme_C: Thiamine pyrophosphate enzyme, C-terminal TPP binding domain (467 - 618)

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  • 500
  • 632 a.a.
Protein Preferred Names Protein Names

2-hydroxyacyl-CoA lyase 2

2-hydroxyacyl-CoA lyase 1 like

ILVBL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ILVBL A1L0T0 CEP76 Homo sapiens Q8TAP6
Y2H Prey Pooling
25416956
Intra
ILVBL A1L0T0 CEP76 Homo sapiens Q8TAP6
Validated Y2H
25416956
Intra
ILVBL A1L0T0 CEP76 Homo sapiens Q8TAP6
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Gastrointestinal Anthrax
Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ILVBL VGNC VGNC:42003
Rattus norvegicus ILVBL RGD RGD:1307988
Macaca mulatta ILVBL VGNC VGNC:73739
Felis catus ILVBL VGNC VGNC:67793
Bos taurus ILVBL VGNC VGNC:30179
Mus musculus ILVBL MGD MGI:1351911