Inactive C-alpha-formylglycine-generating enzyme 2 (SUMF2)
The protein contains 301 amino acids for an estimated molecular weight of 33843 Da.
Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
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:rs4245575 | |
| Found in a consanguineous family with intellectual disability |
The reference OMIM entry for this protein is 607940
Sulfatase-modifying factor 2; sumf2
CLONING
Dierks et al. (2003) and Cosma et al. (2003) identified SUMF2 as a paralog of SUMF1 (607939), which encodes the C-alpha-formylglycine-generating enzyme (FGE). The deduced 301-amino acid SUMF2 protein shares 48% and 86% amino acid identity with SUMF1 and mouse Sumf2. It has the same tripartite domain structure as SUMF1.MAPPING
By genomic sequence analysis, Cosma et al. (2003) mapped the SUMF2 gene to chromosome 7q11. However, Gross (2015) mapped the SUMF2 gene to chromosome 7p11.2 based on an alignment of the SUMF2 sequence (GenBank GENBANK AK075477) with the genomic sequence (GRCh38). ... More on the omim web site
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 607940 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).