Target intelligence / Profile preview

NudC domain-containing protein 3 (NUDCD3)

Target
NUDCD3
Molecular classification
Other (chaperone protein, dynein complex regulator), NudC family, Structural protein
01

Overview

NudC domain-containing protein 3 (NUDCD3) is a cytosolic protein encoded by the NUDCD3 gene on human chromosome 7. It stabilizes the dynein intermediate chain, and its depletion causes aggregation and degradation of the dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules and poles, and loss of gamma-tubulin from spindle poles, culminating in mitotic defects such as cell cycle arrest and cell death. NUDCD3 localizes to the Golgi apparatus during interphase, with elevated protein levels following the G1/S transition. It is also involved in protein folding, cilium assembly, and developmental processes. Mutations in NUDCD3 have been linked to severe combined immunodeficiency and Omenn syndrome due to disruption of V(D)J recombination in B and T cell development

Other names
NudCLKIAA1068NudC domain containing 3NUDCD3NudC-like protein
02

Mechanism of action

None identified. No drugs are known to modulate NUDCD3, thus no established mechanisms of action

03

Biological functions

Maintenance of dynein intermediate chain stabilityProtein foldingCilium assemblyCytoskeletal protein bindingCell division (mitosis)Protein localization, especially to Golgi during interphase
04

Disease associations

Severe combined immunodeficiency (SCID)Omenn syndromeLissencephalyOther developmental and metabolic disorders, based on functional associations (reported links include anemia, diabetes, and syndromic conditions, though evidence is limited and may not be direct)
05

Biomarkers

NUDCD3 deficiencies or mutations have been linked to SCID and Omenn syndrome (potential research biomarker for genetic immunodeficiency)

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