ELMO domain-containing protein 2 (ELMOD2)
The protein contains 293 amino acids for an estimated molecular weight of 34961 Da.
Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses. (updated: Jan. 7, 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.
- 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.
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No binding partner found
The reference OMIM entry for this protein is 610196
Elmo/ced12 domain-containing protein 2; elmod2
DESCRIPTION
ELMOD2 functions as a GTPase-activating protein (GAP) for members of the ARL (see ARL2, 601175) and ARF (see ARF1, 103180) families of small GTPases (Bowzard et al., 2007).CLONING
Strausberg et al. (2002) identified the ELMOD2 gene, which encodes a 293-amino acid protein. Using RT-PCR Hodgson et al. (2006) found that ELMOD2 mRNA was expressed in all human tissues and cell types studied, except skeletal muscle. Using in situ hybridization, the authors recognized expression in alveolar macrophages and alveolar walls in healthy lung. By database analysis to identify proteins similar to bovine testis Elmod2, followed by RT-PCR of a fetal brain cDNA library, Bowzard et al. (2007) cloned human ELMOD2. The deduced 293-amino acid protein shares 94% identity with bovine Elmod2. ELMOD2 contains a C-terminal ELMO domain, but it lacks the C-terminal pleckstrin (PLEK; 173570) homology domain found in larger ELMO domain-containing proteins, such as ELMO1 (606420). Northern blot analysis detected weak expression of a 1.3-kb transcript in stomach and testis, but not in other human tissues. Database analysis revealed orthologs of ELMOD2 in vertebrates, but not in early eukaryotes.GENE STRUCTURE
The ELMOD2 gene consists of 9 exons (Strausberg et al., 2002).MAPPING
By genomic sequence analysis, Hodgson et al. (2006) mapped the ELMOD2 gene to chromosome 4q31.GENE FUNCTION
Bowzard et al. (2007) found that HeLa cells transfected with ELMOD2 showed elevated GAP activity against ARL2, ARL3 (604695), ARF1, and ARF6 (600464), but not RHOA (165390) RAC1, (602048), and RAN (601179). The GAP activity of recombinant human ELMOD2 or purified bovine Elmod2 was much less stable than that of the unpurified bovine testis GAP that was attributed to Elmod2. In the unpurified form, the GAP activity was associated with a protein complex with an apparent molecular mass of over 1.3 million Da.MOLECULAR GENETICS
Hodgson et al. (2006) identified the ELMOD2 gene as a candidate for the site of the mutation causing familial idiopathic pulmonary fibrosis (IPF; 178500) in a clustering of cases in the Savo Province of southeastern Finland. An initial genomewide scan identified 5 loci of interest. Hierarchical fine mapping in an extended dataset with 24 families originating from the same geographic region revealed a shared 110-kb to 13-Mb haplotype on chromosome 4q31 that was significantly more frequent among patients than in population-based controls (odds ratio 6.3; 95% CI 2.5-15.9; P = 0.0001). The shared haplotype harbored the ELMOD2 and LOC152586 (610310) genes. While ELMOD2 expression was detected in healthy human lung, no specific signal for ELMOD2 was found in IPF lung samples under several hybridization conditions. Exons 1 through 3 of ELMOD2 were found to be located within the susceptibility haplotype. All 9 exons and exon-intron boundaries of ELMOD2 were sequenced in 1 affected patient from each IPF family in which the genome scan was performed. No mutations were found in the coding regions or exon-intron boundaries. ... 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 16, 2016: Protein entry updated
Automatic update: OMIM entry 610196 was added.