Katanin p60 ATPase-containing subunit A-like 2 (KATNAL2)
The protein contains 538 amino acids for an estimated molecular weight of 61253 Da.
Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays. (updated: Oct. 10, 2018)
Protein identification was indicated in the following studies:
- 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.
(right-click above to access to more options from the contextual menu)
| Variant | Description |
|---|---|
| dbSNP:rs7233515 |
No binding partner found
Molecular Function
ATP binding
ATPase
Isomerase activity
Microtubule binding
Microtubule-severing ATPase activity
The reference OMIM entry for this protein is 614697
Katanin, p60 subunit, a-like protein 2; katnal2
Katna-like 2
CLONING
De Moor et al. (2012) stated that the KATNAL2 gene is highly expressed in the central nervous system.MAPPING
De Moor et al. (2012) stated that the KATNAL2 gene maps to chromosome 18q21.1.MOLECULAR GENETICS
In a study of exonic de novo mutations in autism spectrum disorders (see 209850), Neale et al. (2012) identified 3 loss-of-function mutations in the KATNAL2 gene among 935 cases and no mutations in CHD8 among 870 controls. O'Roak et al. (2012) performed whole-exome sequencing for parent-child trios exhibiting sporadic autism spectrum disorders, including 189 new trios and 20 that were previously reported (O'Roak et al., 2011). In addition, O'Roak et al. (2012) sequenced the exomes of 50 unaffected sibs corresponding to 31 of the new and 19 of the previously reported trios, for a total of 677 individual exomes from 209 families. In proband exomes, O'Roak et al. (2012) identified a splice site mutation in the KATNAL2 gene. Sanders et al. (2012) combined all de novo events in their sample with those identified in the study of O'Roak et al. (2012) and observed from a total of 414 probands that the KATNAL2 gene carried 2 highly disruptive mutations. ... More on the omim web site
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 614697 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).