Protein EFR3 homolog A (EFR3A)
The protein contains 821 amino acids for an estimated molecular weight of 92924 Da.
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825). (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
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 annotated as membranous in Gene Ontology, is annotated as membranous in UniProt.
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Biological Process
Phosphatidylinositol phosphate biosynthetic process
Protein localization to plasma membrane
Molecular Function
The reference OMIM entry for this protein is 611798
Efr3, s. cerevisiae, homolog of, a; efr3a
Kiaa0143
CLONING
By sequencing clones obtained from a size-fractionated human myeloid leukemia cell line cDNA library, Nagase et al. (1995) cloned EFR3A, which they designated KIAA0143. The deduced protein contains 885 amino acids and contains transmembrane domains. Northern blot analysis detected EFR3A in all tissues and cell lines examined, with highest expression in skeletal muscle. Munemoto et al. (2004) cloned mouse Efr3a. The deduced 819-amino acid protein contains 4 putative transmembrane domains and potential sites for phosphorylation and N-glycosylation. Fluorescence-tagged Efr3a was expressed on the cell membrane and in some intracellular elements in transfected COS-1 cells.GENE FUNCTION
Using in situ hybridization, Munemoto et al. (2004) found that Efr3a was differentially expressed in the auditory brainstem of mice with hearing deficit compared with control mice. In control mice, Efr3a mRNA was enriched in large neurons surrounding the lateral superior olive (LSO), with only trace expression in small neurons of the LSO core. In contrast, mice subjected to malleus removal or cochlear ablation showed decreased expression of Efr3a mRNA in large neurons surrounding the LSO and increased expression in small LSO core neurons.MAPPING
By PCR of a human/rodent hybrid panel, Nagase et al. (1995) mapped the EFR3A gene to chromosome 8. Munemoto et al. (2004) mapped the mouse Efr3a gene to chromosome 15D1. ... More on the omim web site
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 611798 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).