SUFU Q9UMX1

融合抑制因子同源蛋白 (SUFUH)

功能描述

hedgehog/smoothened信号通路中的负调控因子 (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:28965847). 下调GLI1介导的靶基因反式激活 (PubMed:15367681, PubMed:24217340, PubMed:24311597). 下调GLI2介导的靶基因反式激活 (PubMed:24217340, PubMed:24311597). 作用于结合DNA的GLI1的共抑制复合物的一部分。也可能通过将GLI1连接到BTRC，从而靶向GLI1被蛋白酶体降解 (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). 将GLI1、GLI2和GLI3隔离在细胞质中，这种效应可通过STK36与SUFU及GLI蛋白的结合而被克服 (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:24217340). beta-catenin信号通路的负调控因子 (By similarity). 调控全长形式GLI3 (GLI3FL) 形成抑制形式 (GLI3R) 或激活形式 (GLI3A) (PubMed:24311597, PubMed:28965847). GLI3FL在细胞质中与SUFU形成复合物并保持中性状态 (PubMed:24311597, PubMed:28965847). 没有Hh信号时，SUFU-GLI3复合物被招募到纤毛，导致GLI3FL高效加工成GLI3R (PubMed:24311597, PubMed:28965847). 当Hh信号启动时，SUFU与GLI3FL解离，后者易位至细胞核，在那里被磷酸化、去稳定化，并转化为转录激活因子 (GLI3A) (PubMed:24311597, PubMed:28965847). 正常胚胎发育所必需 (By similarity). 毛囊正常形成和表皮分化控制所必需 (By similarity). {ECO:0000250|UniProtKB:Q9Z0P7, ECO:0000269|PubMed:10559945, ECO:0000269|PubMed:10564661, ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:12068298, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15367681, ECO:0000269|PubMed:22365972, ECO:0000269|PubMed:24217340, ECO:0000269|PubMed:24311597, ECO:0000269|PubMed:27234298, ECO:0000269|PubMed:28965847}.

组织特异性

Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much lower levels in fetal brain, lung and kidney.

亚细胞定位

Cytoplasm