DYNC1LI1

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Description

The DYNC1LI1 (dynein cytoplasmic 1 light intermediate chain 1) is a protein-coding gene located on chromosome 3.

Cytoplasmic dynein 1 light intermediate chain 1 is a protein that in humans is encoded by the DYNC1LI1 gene.

DYNC1LI1 is a non-catalytic accessory component of the cytoplasmic dynein 1 complex, which is involved in linking dynein to cargos and adapter proteins that regulate dynein function. Cytoplasmic dynein 1 is a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. DYNC1LI1 may play a role in binding dynein to membranous organelles or chromosomes, and it is probably involved in the microtubule-dependent transport of pericentrin. DYNC1LI1 is required for progress through the spindle assembly checkpoint, and the phosphorylated form of DYNC1LI1 is involved in the selective removal of MAD1L1 and MAD1L2, but not BUB1B, from kinetochores. DYNC1LI1 forms a functional Rab11/RAB11FIP3/dynein complex on the endosomal membrane, regulating the movement of peripheral sorting endosomes (SE) along microtubule tracks toward the microtubule organizing center/centrosome, generating the endosomal recycling compartment (ERC).

DYNC1LI1 is also known as DLC-A, DLIC-1, DNCLI1, LIC1.

Associated Diseases

• nanophthalmos 2
• nanophthalmia
• hemoglobin D disease
• immunodeficiency 75
• dominant beta-thalassemia
• hemoglobin C-beta-thalassemia syndrome
• overhydrated hereditary stomatocytosis
• premature ovarian failure 12
• microphthalmia, isolated, with coloboma 7
• iridocorneal endothelial syndrome
• IRIDA syndrome
• X-linked dyserythropoetic anemia with abnormal platelets and neutropenia