GADD45GIP1

Description

The GADD45GIP1 (GADD45G interacting protein 1) is a protein-coding gene located on chromosome 19.

GADD45GIP1 (Growth arrest and DNA-damage-inducible proteins-interacting protein 1) is a protein that is encoded by the GADD45GIP1 gene in humans. It is a newly identified de novo component of the large subunit of the mitoribosome. GADD45GIP1 is essential for the translation of mitochondrial oxidative phosphorylation (OXPHOS) polypeptides in mammalian mitochondria. It interacts with low-sulfur (LSU) proteins, some of which surround the exit tunnel of the mitoribosome, as well as with nascent OXPHOS polypeptides and the mitochondrial-specific chaperone Tid1. The essential role of GADD45GIP1 in mitochondrial synthesis and membrane integration of OXPHOS polypeptides was demonstrated in brain-specific GADD45GIP1-deficient mice, which exhibited profound OXPHOS failure and marked neurodegeneration.

GADD45GIP1 acts as a negative regulator of the G1 to S cell cycle phase progression by inhibiting cyclin-dependent kinases. Its inhibitory effects are amplified in the presence of GADD45 proteins, but also occur independently of them. It represses the orphan nuclear receptor NR4A1 by inhibiting AB domain-mediated transcriptional activity. This protein may play a role in hormone-mediated regulation of NR4A1 transcriptional activity and mitochondrial protein synthesis.

GADD45GIP1 is also known as CKBBP2, CKbetaBP2, CRIF1, MRP-L59, PLINP, PLINP-1, PRG6, Plinp1, mL64.

Associated Diseases

WES Whole Exome Sequencing