Band 4.1-like protein 3 (EPB41L3)
The protein contains 1087 amino acids for an estimated molecular weight of 120678 Da.
Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5. (updated: April 1, 2015)
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.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- 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.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| dbSNP:rs9966357 | |
| dbSNP:rs8082898 | |
| dbSNP:rs8096452 |
Biological Process
Actomyosin structure organization
Apoptotic process
Cortical actin cytoskeleton organization
Cortical cytoskeleton organization
Myelin maintenance
Neuron projection morphogenesis
Obsolete cytoskeletal anchoring at plasma membrane
Paranodal junction assembly
Protein localization to juxtaparanode region of axon
Protein localization to paranode region of axon
Protein localization to plasma membrane
Regulation of cell growth
Regulation of cell shape
The reference OMIM entry for this protein is 605331
Erythrocyte membrane protein band 4.1-like 3; epb41l3
Differentially expressed in adenocarcinoma of the lung; dal1
Nonerythroid protein 4.1, brain type; 4.1b
CLONING
Tran et al. (1999) identified a protein-4.1 gene, DAL1 (differentially expressed in adenocarcinoma of the lung), located on chromosome 18p11.3, which is lost in approximately 60% of non-small cell lung carcinomas, and exhibits growth-suppressing properties in lung cancer cell lines. DAL1 is 73% identical in its N-terminal domain to members of the protein 4.1 family and shares structural similarity to the Drosophila 4.1 homolog 'coracle.' DAL1 is normally expressed at high levels in brain, with lower levels in kidney, intestine, and testis.GENE FUNCTION
Using LOH, RT-PCR, western blot, and immunohistochemistry analyses, Gutmann et al. (2000) demonstrated DAL1 loss in 60% of sporadic meningiomas. The NF2 tumor suppressor gene (607379), encoding merlin, is inactivated in 40% of sporadic meningiomas. Gutmann et al. (2000) showed that, analogous to merlin, DAL1 loss is an early event in meningioma tumorigenesis, suggesting that these 2 protein-4.1 family members are critical growth regulators in the pathogenesis of meningiomas. The authors hypothesized that membrane-associated alterations may be important in the early stages of neoplastic transformation.MAPPING
Tran et al. (1999) mapped the EPB41L3 gene to chromosome 18p11.3 by FISH.GENE FAMILY
The protein 4.1 (EPB41; 130500) family of membrane-associated proteins, of which DAL1 is a member, includes merlin (or schwannomin), encoded by NF2 (607379), ezrin (123900), radixin (179410), and moesin (309845) (summary by Tran et al., 1999).EVOLUTION
Tan et al. (2005) found that the EPB41 and EPB41L3 genes from fish, bird, amphibian, and mammalian genomes exhibit shared features, including alternative first exons and differential splicing acceptors in exon 2. In all cases, the most 5-prime exon, exon 1A, splices exclusively to a weaker internal acceptor site in exon 2, skipping a fragment designated exon 2-prime. Conversely, alternative first exons 1B and 1C always splice to the stronger first acceptor site, retaining exon 2-prime. These correlations were independent of cell type or species of origin. Since exon 2-prime contains a translation initiation site, splice variants generate protein isoforms with distinct N termini. Tan et al. (2005) calculated that coupling between upstream promoters and downstream splicing in EPB41 and EBP41L3 has been conserved for at least 500 million years. ... More on the omim web site
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 25, 2017: Additional information
No protein expression data in P. Mayeux work for EPB41L3
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 605331 was added.
Feb. 24, 2016: Protein entry updated
Automatic update: model status changed