ACTR1A
actin related protein 1A
Summary
This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It 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 is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2544808061 | 10:104,241,759 | T/A | — | uncertain significance |
| rs747885479 | 10:104,241,880 | A/G | — | uncertain significance |
| rs756997769 | 10:104,243,984 | T/C | — | uncertain significance |
| rs748380848 | 10:104,243,987 | A/T | — | uncertain significance |
| rs1312953202 | 10:104,247,941 | T/C | — | uncertain significance |
| rs7069356 | 10:104,254,359 | G/C | intron variant | — |
| rs2296590 | 10:104,262,628 | G/A | regulatory region variant | — |
| rs28942088 | 10:104,263,953 | C/T | missense variant | pathogenic |
| rs863224925 | 10:104,264,020 | — | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.