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,
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Part of the ACTR1A/ACTB filament around which the dynactin complex is built. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Motor proteins","Salmonella infection","COPI-mediated anterograde transport","MHC class II antigen presentation","Regulation of PLK1 Activity at G2\/M Transition","HSP90 chaperone cycle for steroid hormone receptors (SHR)","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","COPI-independent Golgi-to-ER retrograde traffic"]
["Motor proteins","Salmonella infection","COPI-mediated anterograde transport","MHC class II antigen presentation","Regulation of PLK1 Activity at G2\/M Transition","HSP90 chaperone cycle for steroid hormone receptors (SHR)","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","COPI-independent Golgi-to-ER retrograde traffic"]
["Motor proteins","Salmonella infection","COPI-mediated anterograde transport","MHC class II antigen presentation","Regulation of PLK1 Activity at G2\/M Transition","HSP90 chaperone cycle for steroid hormone receptors (SHR)","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","COPI-independent Golgi-to-ER retrograde traffic"]
["Motor proteins","Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Motor proteins","Salmonella infection","COPI-mediated anterograde transport","MHC class II antigen presentation","Regulation of PLK1 Activity at G2\/M Transition","HSP90 chaperone cycle for steroid hormone receptors (SHR)","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","COPI-independent Golgi-to-ER retrograde traffic"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to ACTR1A (see Related Genes above), that are NOT already directly curated for ACTR1A itself -- a lead worth checking, not a confirmed association.