Online Mendelian Inheritance in Man (OMIM)
- ️Thu Feb 19 2015
* 616235
KATANIN, p80 SUBUNIT, B-LIKE 1; KATNBL1
Alternative titles; symbols
KATNB1-LIKE PROTEIN 1
CHROMOSOME 15 OPEN READING FRAME 29; C15ORF29
HGNC Approved Gene Symbol: KATNBL1
Cytogenetic location: 15q14 Genomic coordinates (GRCh38) : 15:34,140,674-34,210,096 (from NCBI)
TEXT
Description
Katanins are microtubule-severing ATPases, made up of catalytic and regulatory subunits, that regulate the length of the mitotic spindle. KATNBL1 is predicted to function as a katanin regulatory subunit (Roll-Mecak and McNally, 2010).
Cloning and Expression
By database analysis, Roll-Mecak and McNally (2010) identified C15ORF29 as a likely katanin regulatory subunit. However, unlike the canonical p80 katanin regulatory subunit KATNB1 (602703), C15ORF29 lacks an N-terminal WD40 domain and has only the conserved C-terminal domain.
Gene Function
Using human proteins expressed in E. coli, McNally and McNally (2011) found that C15ORF29 bound stabilized microtubules in vitro. Addition of the catalytic katanin subunit KATNAL1 (614764) increased the affinity of microtubule binding above that measured for either protein alone. Mutation analysis revealed that C15ORF29 bound KATNAL1 via an N-terminal domain.
Mapping
Hartz (2015) mapped the KATNBL1 gene to chromosome 15q14 based on an alignment of the KATNBL1 sequence (GenBank AK026210) with the genomic sequence (GRCh38).
REFERENCES
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Hartz, P. A. Personal Communication. Baltimore, Md. 2/19/2015.
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McNally, K. P., McNally, F. J. The spindle assembly function of Caenorhabditis elegans katanin does not require microtubule-severing activity. Molec. Biol. Cell 22: 1550-1560, 2011. Note: Erratum: Molec. Biol. Cell 23: 4472 only, 2012. [PubMed: 21372175] [Full Text: https://doi.org/10.1091/mbc.E10-12-0951]
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Roll-Mecak, A., McNally, F. J. Microtubule-severing enzymes. Curr. Opin. Cell Biol. 22: 96-103, 2010. [PubMed: 19963362] [Full Text: https://doi.org/10.1016/j.ceb.2009.11.001]
Creation Date:
Patricia A. Hartz : 2/19/2015
Edit History:
mgross : 08/12/2016
mgross : 02/24/2015
mcolton : 2/19/2015