ACTR1B
actin related protein 1B
Summary
This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1674856965 | 2:98,273,364 | T/C | — | uncertain significance |
| rs1398677547 | 2:98,273,637 | G/C | — | uncertain significance |
| rs571901265 | 2:98,273,645 | G/A | — | uncertain significance |
| rs765785816 | 2:98,273,651 | G/A | — | uncertain significance |
| rs2482248214 | 2:98,273,936 | A/G | — | uncertain significance |
| rs753284851 | 2:98,274,552 | T/G | — | uncertain significance |
| rs543225703 | 2:98,274,562 | G/A | — | uncertain significance |
| rs565812380 | 2:98,274,730 | G/A | — | uncertain significance |
| rs1674916713 | 2:98,274,914 | A/T | — | uncertain significance |
| rs780715402 | 2:98,274,922 | C/G | — | uncertain significance |
| rs1559288845 | 2:98,274,951 | C/T | — | uncertain significance |
| rs773755356 | 2:98,274,963 | C/T | — | uncertain significance |
| rs776719600 | 2:98,274,973 | G/A | — | uncertain significance |
| rs756981148 | 2:98,274,979 | C/T | — | uncertain significance |
| rs762893226 | 2:98,274,985 | G/A | — | uncertain significance |
| rs763953615 | 2:98,274,988 | C/T | — | uncertain significance |
| rs200965492 | 2:98,275,011 | G/C | — | uncertain significance |
| rs376624854 | 2:98,275,043 | C/T | — | likely benign |
| rs762467775 | 2:98,275,411 | G/A | — | uncertain significance |
| rs750728284 | 2:98,275,441 | G/A | — | uncertain significance |
| rs142996046 | 2:98,275,449 | C/T | — | likely benign |
| rs2482262275 | 2:98,275,463 | G/T | — | uncertain significance |
| rs771783716 | 2:98,275,853 | C/T | — | uncertain significance |
| rs201200377 | 2:98,275,898 | C/T | — | uncertain significance |
| rs772561765 | 2:98,277,087 | G/A | — | uncertain significance |
| rs778736014 | 2:98,278,399 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.