KATNA1
katanin catalytic subunit A1
Summary
Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148963342 | 6:149,916,190 | A/C | — | uncertain significance |
| rs758877724 | 6:149,918,259 | A/G | — | uncertain significance |
| rs570083415 | 6:149,918,299 | T/C | — | uncertain significance |
| rs2482812717 | 6:149,918,662 | G/C | — | uncertain significance |
| rs1778407082 | 6:149,919,485 | G/C | — | uncertain significance |
| rs9322194 | 6:149,920,249 | C/T | downstream gene variant | — |
| rs58189451 | 6:149,921,388 | G/T | — | — |
| rs534743192 | 6:149,922,746 | C/T | — | uncertain significance |
| rs368136770 | 6:149,922,827 | G/A | — | uncertain significance |
| rs761454896 | 6:149,922,873 | C/T | — | uncertain significance |
| rs1250564677 | 6:149,924,425 | C/A | — | uncertain significance |
| rs2482830061 | 6:149,924,478 | T/G | — | uncertain significance |
| rs758348801 | 6:149,924,484 | C/G | — | uncertain significance |
| rs780584106 | 6:149,925,870 | T/C | — | uncertain significance |
| rs372543973 | 6:149,925,905 | G/A | — | uncertain significance |
| rs9498383 | 6:149,934,177 | G/A | intron variant | — |
| rs9505982 | 6:149,939,601 | G/A | intron variant | — |
| rs1779472307 | 6:149,944,304 | T/C | — | uncertain significance |
| rs1023782706 | 6:149,944,352 | G/A | — | uncertain significance |
| rs778764236 | 6:149,944,357 | T/C | — | uncertain significance |
| rs186994920 | 6:149,944,789 | G/A | intron variant | — |
| rs1179291154 | 6:149,953,896 | T/C | — | uncertain significance |
| rs758929490 | 6:149,953,929 | C/T | — | uncertain significance |
| rs150419039 | 6:149,953,961 | G/A | — | uncertain significance |
| rs2482913144 | 6:149,953,962 | C/G | — | uncertain significance |
| rs778977868 | 6:149,959,613 | G/A | — | uncertain significance |
| rs748303578 | 6:149,959,619 | T/C | — | uncertain significance |
| rs374517735 | 6:149,959,643 | C/T | — | uncertain significance |
| rs771314781 | 6:149,959,657 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.