| Gene Symbol |
SUFU
|
| Entrez Gene |
51684
|
| Alt Symbol |
PRO1280, SUFUH, SUFUXL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
suppressor of fused homolog (Drosophila)
|
| Other Description |
suppressor of fused homolog
|
| Swissprots |
Q9UMX1 Q9NZ07 Q7LCP7 Q9UHK2 Q9UMY0 Q9UHM8 Q9NT90
|
| Accessions |
AAM08947 EAW49681 EAW49682 EAW49683 EAW49684 Q9UMX1 AF144231 AAF23890 AF159447 AAF23893 AF172319 AAD51655 AF175770 AAD50501 AF222345 AAF35866 AK307370 AK311503 AK312319 BAG35241 AL137465 CAB70752 AY358550 AAQ88914 BC013291 AAH13291 DA248208 DQ892586 ABM83512 DQ895804 ABM86730 XM_011539858 XP_011538160 XM_011539859 XP_011538161 XM_011539860 XP_011538162 XM_011539861 XP_011538163 XM_011539862 XP_011538164 XM_011539863 XP_011538165 XM_011539864 XP_011538166 NM_001178133 NP_001171604 NM_016169 NP_057253
|
| Function |
Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU- GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Required f
|
| Subcellular Location |
Cytoplasm. Nucleus.
|
| Tissue Specificity |
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. {ECO:0000269|PubMed:10559945, ECO:0000269|PubMed:10564661}.
|
| Top Pathways |
Hedgehog signaling pathway, Basal cell carcinoma
|