Seufert Florian, Pérez-Hernández Guillermo, Pándy-Szekeres Gáspár, Guixà-González Ramon, Langenhan Tobias, Gloriam David E, Hildebrand Peter W
Institute for Medical Physics and Biophysics, Leipzig University, Medical Faculty, Leipzig, Germany.
Institute for Medical Physics and Biophysics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Nat Commun. 2025 Jan 2;16(1):246. doi: 10.1038/s41467-024-55466-6.
The GPCR autoproteolysis inducing (GAIN) domain is an ancient protein fold ubiquitous in adhesion G protein-coupled receptors (aGPCR). It contains a tethered agonist necessary and sufficient for receptor activation. The GAIN domain is a hotspot for pathological mutations. However, the low primary sequence conservation of GAIN domains has thus far hindered the knowledge transfer across different GAIN domains in human receptors as well as species orthologs. Here, we present a scheme for generic residue numbering of GAIN domains, based on structural alignments of over 14,000 modeled GAIN domain structures. This scheme is implemented in the GPCR database (GPCRdb) and elucidates the domain topology across different aGPCRs and their homologs in a large panel of species. We identify conservation hotspots and statistically cancer-enriched positions in human aGPCRs and show the transferability of positional and structural information between GAIN domain homologs. The GAIN-GRN scheme provides a robust strategy to allocate structural homologies at the primary and secondary levels also to GAIN domains of polycystic kidney disease 1/PKD1-like proteins, which now renders positions in both GAIN domain types comparable to one another. In summary, our work enables researchers to generate hypothesis and rationalize experiments related to GAIN domain function and pathology.
GPCR自催化诱导(GAIN)结构域是一种古老的蛋白质折叠结构,广泛存在于粘附G蛋白偶联受体(aGPCR)中。它包含一个对受体激活既必要又充分的拴系激动剂。GAIN结构域是病理突变的热点区域。然而,GAIN结构域的一级序列保守性较低,这一情况迄今阻碍了人类受体以及物种直系同源物中不同GAIN结构域之间的知识转移。在此,我们基于对14000多个建模的GAIN结构域结构的比对,提出了一种GAIN结构域通用残基编号方案。该方案已在GPCR数据库(GPCRdb)中实施,阐明了不同aGPCR及其在大量物种中的同源物的结构域拓扑结构。我们确定了人类aGPCR中的保守热点和统计学上癌症富集的位置,并展示了GAIN结构域同源物之间位置和结构信息的可转移性。GAIN-GRN方案提供了一种强有力的策略,可将一级和二级水平的结构同源性也分配给多囊肾病1/PKD1样蛋白的GAIN结构域,这使得两种GAIN结构域类型中的位置现在可以相互比较。总之,我们的工作使研究人员能够生成与GAIN结构域功能和病理学相关的假设并使实验合理化。