2-hydroxyacyl-CoA lyase 2 (ILVBL)
The protein contains 632 amino acids for an estimated molecular weight of 67868 Da.
Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner. Involved in the phytosphingosine degradation pathway. (updated: April 22, 2020)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs17856373 | |
| dbSNP:rs35548653 |
Biological Process
Fatty acid alpha-oxidation
Isoleucine biosynthetic process
Valine biosynthetic process
The reference OMIM entry for this protein is 605770
Ilvb-like; ilvbl
Acetolactate synthase, bacterial, homolog of; ahas
Using a fragment isolated from a cosmid containing D19S841 at 19p13.1 to screen a human fetal brain cDNA library, Joutel et al. (1996) cloned a novel cDNA, which they called 209L8, encoding a deduced 632-amino acid protein that shows high homology with several bacterial, plant, and yeast enzymes that have in common the use of thiamine pyrophosphate as a cofactor. The highest degree of similarity was found with 2 bacterial enzymes, the B isozyme of the large catalytic subunit of E. coli acetohydroxy-acid synthase (AHAS) and the oxalyl-coA decarboxylase of O. formigenes. Northern blot analysis detected an abundant 2.4-kb transcript in all tissues tested, with highest expression in heart, pancreas, and placenta. Joutel et al. (1996) found that the ILVBL gene contains 15 coding exons. They excluded the gene as a candidate for CADASIL (125310), which had been mapped to the same region of chromosome 19. ... More on the omim web site
April 25, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 15, 2016: Protein entry updated
Automatic update: OMIM entry 605770 was added.