Alternative titles; symbols
HGNC Approved Gene Symbol: CHCHD1
Cytogenetic location: 10q22.2 Genomic coordinates (GRCh38) : 10:73,782,048-73,783,652 (from NCBI)
By searching a placental bed cDNA library enriched for first-trimester extravillous trophoblasts to identify genes specific to early placenta development, Westerman et al. (2004) cloned CHCHD1, which they designated C2360. CHCHD1 contains a central coiled-coil-helix-coiled-coil-helix (CHCH) domain. Each helix contains 2 cysteines separated by 9 amino acids. Human and mouse CHCHD1 share 85% amino acid identity in the conserved domain. RT-PCR detected strongest expression in first-trimester placental bed and in a choriocarcinoma cell line. Weak expression was detected in developing tissues, such as embryonic brain, chorionic villus fibroblasts, and full-term placenta. No expression was detected in adult tissues. In situ hybridization showed that expression in the first-trimester placental bed was restricted to proliferative cytotrophoblasts at the proximal zone of placental anchoring villi. Transfected choriocarcinoma cells expressed fluorescence-labeled CHCHD1 in the nucleus, and mutation analysis indicated that the nuclear localization domain is in the N terminus.
Westerman et al. (2004) determined that the CHCHD1 gene contains 3 exons.
By genomic sequence analysis, Westerman et al. (2004) mapped the CHCHD1 gene to chromosome 10q22.
Itoh et al. (2022) determined sequential cryoelectron microscopy structures of stable assembly intermediates and initiation complexes of human mitoribosomes at 2.8- to 3.2-angstrom resolution that involved 6 factors: RBFA (620768), TFB1M (607033), METTL15 (618711), MTIF3 (619554), MS37 (CHCHD1), and MTIF2 (603766). The earliest intermediate small mitoribosomal subunit (SSU) contained RBFA and TFB1M and partially unfolded rRNA. RBFA promoted TFB1M binding to partially unfolded rRNA, while the mRNA channel was blocked. This conformation enabled binding of METTL15, which promoted further rRNA maturation and a large conformational change of RBFA. The new RBFA conformation allowed initiation factor MTIF3 to occupy the subunit interface during assembly. Finally, the mitochondria-specific ribosomal protein MS37 outcompeted RBFA to release it and complete assembly with the SSU-MS37-MTIF3 complex that proceeded towards MTIF2 binding and translation initiation.
Itoh, Y., Khawaja, A., Laptev, I., Cipullo, M., Atanassov, I., Sergiev, P., Rorbach, J., Amunts, A. Mechanism of mitoribosomal small subunit biogenesis and preinitiation. Nature 606: 603-608, 2022. [PubMed: 35676484] [Full Text: https://doi.org/10.1038/s41586-022-04795-x]
Westerman, B. A., Poutsma, A., Steegers, E. A. P., Oudejans, C. B. M. C2360, a nuclear protein expressed in human proliferative cytotrophoblasts, is a representative member of a novel protein family with a conserved coiled coil-helix-coiled coil-helix domain. Genomics 83: 1094-1104, 2004. [PubMed: 15177562] [Full Text: https://doi.org/10.1016/j.ygeno.2003.12.006]