Electron transfer flavoprotein subunit beta (ETFB)
The protein contains 255 amino acids for an estimated molecular weight of 27844 Da.
Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:25416781, PubMed:15159392, PubMed:15975918). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:8962055, PubMed:15159392, PubMed:15975918). (updated: Dec. 20, 2017)
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.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
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.
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| Variant | Description |
|---|---|
| GA2B | |
| dbSNP:rs1130426 | |
| GA2B |
Biological Process
Cellular metabolic process
Fatty acid beta-oxidation using acyl-CoA dehydrogenase
Protein methylation
Respiratory electron transport chain
Small molecule metabolic process
The reference OMIM entry for this protein is 130410
Electron transfer flavoprotein, beta polypeptide; etfb
DESCRIPTION
Electron transfer flavoprotein (ETF) exists in the mitochondrial matrix as a heterodimer of 30-kD alpha subunits (ETFA; 608053) and 28-kD beta subunits (ETFB) and contains 1 flavin adenine dinucleotide (FAD) and 1 adenosine 5-prime monophosphate (AMP) per heterodimer. ETFDH (231675), a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. Both enzymes are required for electron transfer from at least 9 mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Multiple acyl-CoA dehydrogenation deficiency (MADD; 231680), also known as glutaric acidemia II or glutaric aciduria II, can be caused by mutation in any of the 3 ETF genes. The disorders resulting from defects in the ETFA, ETFB, and ETFDH genes are referred to as glutaric acidemia IIA, IIB, and IIC, respectively, although there appears to be no difference in the clinical phenotypes.CLONING
Finocchiaro et al. (1989) cloned the gene for the beta subunit of human electron transfer flavoprotein.GENE STRUCTURE
Olsen et al. (2003) determined that the ETFB gene contains 6 exons.MAPPING
Finocchiaro et al. (1989) mapped the ETFB gene to chromosome 19 by Southern analysis of somatic cell hybrid DNAs. Antonacci et al. (1994) assigned the ETFB gene to 19q13.3 by Southern analysis of somatic cell hybrids and fluorescence in situ hybridization. White et al. (1996) mapped the corresponding gene to mouse chromosome 7.MOLECULAR GENETICS
Royal et al. (1991) demonstrated a 2-allele RFLP of the ETFB gene; the frequencies of the alternative alleles were 0.51 and 0.49. Colombo et al. (1994) identified mutations in the ETFB gene in patients with glutaric acidemia IIB (e.g., 130410.0001). In a series of 9 patients with glutaric acidemia II, Olsen et al. (2003) identified a defect in the ETFB gene in each of 3 patients representing the 3 different clinical forms of the disorder: the neonatal-onset form with congenital anomalies (type I), the neonatal-onset form without congenital anomalies (type II), and the late-onset form (type III). ... More on the omim web site
Feb. 10, 2018: 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 16, 2016: Protein entry updated
Automatic update: OMIM entry 130410 was added.