Atlastin-3 (ATL3)
The protein contains 541 amino acids for an estimated molecular weight of 60542 Da.
GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:18270207, PubMed:19665976, PubMed:27619977). (updated: Jan. 31, 2018)
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.
This protein is predicted to be membranous by TOPCONS.
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| Variant | Description |
|---|---|
| HSN1F |
Biological Process
Endoplasmic reticulum organization
Golgi organization
Metabolic process
Positive regulation of endoplasmic reticulum tubular network organization
Protein homooligomerization
The reference OMIM entry for this protein is 609369
Atlastin gtpase 3; atl3
DESCRIPTION
The ATL3 gene encodes a member of the atlastin family of endoplasmic reticulum-shaping membrane-bound GTPases (summary by Kornak et al., 2014).CLONING
By searching databases for sequences similar to atlastin-1 (ATL1; 606439), Zhu et al. (2003) identified atlastin-3. The deduced 567-amino acid protein contains GTP-binding motifs in its N-terminal half and 2 transmembrane domains in its C-terminal half. Kornak et al. (2014) stated that ATL3 is expressed in the central nervous system and in dorsal root ganglia neurons. Expression of the gene in COS-7 cells showed that it localized to endoplasmic reticulum tubules and accumulated in punctuate structures corresponding to 3-way junctions, which represent crossing-points at which the tubules build a polygonal network.MAPPING
Zhu et al. (2003) stated that the atlastin-3 gene maps to chromosome 11q13.1.MOLECULAR GENETICS
In affected members of a 4-generation German family with hereditary sensory neuropathy type IF (HSN1F; 615632), Kornak et al. (2014) identified a heterozygous missense mutation in the ATL3 gene (Y192C; 609369.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Screening of the ATL3 gene in 115 probands with various types of sensory neuropathy identified the same heterozygous Y192C substitution in 3 affected members of a Spanish family with a similar phenotype. The disorder was characterized by sensory neuropathy affecting only the lower limbs. Distal sensory impairment became apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which progressed to osteomyelitis, bony destruction, and amputation. In vitro functional expression studies in COS-7 cells showed that the Y192C mutation caused mislocalization of the protein and had a dominant-negative disruptive effect on the regular structure of the endoplasmic reticulum. The findings contributed to the emerging concept that pathogenic alterations in membrane-shaping proteins contribute to axonal degeneration. ... More on the omim web site
Feb. 5, 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
June 20, 2017: Protein entry updated
Automatic update: comparative model was added.
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 609369 was added.