9lgo
From Proteopedia
Cryo-EM structure of the SPATA5-SPATA5L1-CINP-C1orf109 complex
Structural highlights
DiseaseAFG2A_HUMAN Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome. The disease is caused by variants affecting the gene represented in this entry. FunctionAFG2A_HUMAN ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). Plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024, PubMed:38554706). May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By similarity).[UniProtKB:Q3UMC0][1] [2] References
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Categories: Homo sapiens | Large Structures | Dai Y | Gao N | Zhang Y
