EPM2A-interacting protein 1 (EPM2AIP1)
The protein contains 607 amino acids for an estimated molecular weight of 70370 Da.
No function (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.
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| Variant | Description |
|---|---|
| dbSNP:rs4647202 | |
| dbSNP:rs4647201 |
No binding partner found
The reference OMIM entry for this protein is 607911
Epm2a-interacting protein 1; epm2aip1
Laforin-interacting protein 1
Kiaa0766
CLONING
By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1998) cloned EPM2AIP1, which they designated KIAA0766. The deduced protein contains 607 amino acids, and the 3-prime untranslated region contains MIR sequences. RT-PCR ELISA detected expression in all tissues examined, with highest levels in heart and brain and lowest level in spleen. By yeast 2-hybrid screening using EPM2A (607566) as bait, followed by RT-PCR, Ianzano et al. (2003) cloned EPM2AIP1 from a brain cDNA library. The deduced 607-amino acid protein contains 2 coiled-coil domains, and the 3-prime untranslated region contains 5 polyadenylation signals. EPM2AIP1 shares 83% amino acid identity with its mouse ortholog and 95% nucleotide identity with Macaca fascicularis Epm2Aip1. Northern blot analysis detected transcripts of 8.5, 5.6, 4.8, and 4.2 kb expressed in a tissue-specific manner in all tissues tested. The 5.6-kb transcript predominated in all tissues and was the only transcript detected in brain. The 4.2-kb transcript was detected only in skeletal muscle. EPM2A and EPM2AIP1 colocalized at the endoplasmic reticulum in transfected embryonic kidney cells and COS-7 cells. Cellular fractionation detected EPM2AIP1 in the soluble and light membrane fractions in a manner similar to that of EPM2A.GENE FUNCTION
Ianzano et al. (2003) confirmed interaction between EPM2A and EPM2AIP1 by coexpression and coimmunoprecipitation in COS-7 cells.GENE STRUCTURE
Ianzano et al. (2003) determined that EPM2AIP1 is transcribed from a single exon.MAPPING
By radiation hybrid analysis, Nagase et al. (1998) mapped the EMP2AIP1 gene to chromosome 3. By genomic sequence analysis, Ianzano et al. (2003) mapped the EPM2AIP1 gene to chromosome 3p22.1. They mapped the mouse Epm2aip1 gene to chromosome 9 in a region that shows homology of synteny to human chromosome 3p22.1. ... More on the omim web site
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Nov. 17, 2018: Protein entry updated
Automatic update: OMIM entry 607911 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).