DYNC1I2
Function
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function (PubMed:31079899). Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules (PubMed:31079899). The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCTN1 (By similarity). Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes (By similarity).
Involvement in disease
Neurodevelopmental disorder with microcephaly and structural brain anomalies
NEDMIBA
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
The phosphorylation status of Ser-90 appears to be involved in dynactin-dependent target binding.
Pyrophosphorylation by 5-diphosphoinositol pentakisphosphate (5-IP7) promotes interaction with DCTN1. Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue.
Sequence Similarities
Belongs to the dynein intermediate chain family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cytoplasm
- Detected in the cytoplasm of pachytene spermatocytes. Localizes to the manchette in elongating spermatids.
Alternative names
DNCI2, DNCIC2, DYNC1I2, Cytoplasmic dynein 1 intermediate chain 2, Cytoplasmic dynein intermediate chain 2, DH IC-2