AlphaFold predicted structure
SUFU · Q9UMX1
Mean pLDDT
82.3/ 100
Confident
484 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)10%
- Low(50–70)6%
- Very low(< 50)18%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SUFU
Chr 10q24.32SUFU negative regulator of hedgehog signaling
- Aliases:
- SUFUH, SUFUXL, PRO1280
- MANE:
- ENST00000369902.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEmbryonal tumour of possible germline origin
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial tumours of the nervous system
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
medulloblastoma
0.80nevoid basal cell carcinoma syndrome
0.80Joubert syndrome 32
0.72familial meningioma
0.66Joubert syndrome
0.60hereditary neoplastic syndrome
0.55Inherited cancer-predisposing syndrome
0.55meningioma
0.45neurodevelopmental disorder
0.44skin basal cell carcinoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Suppressor of fused homolog
Negative regulator in the hedgehog/smoothened signaling pathway that acts by sequestering the GLI (GI1, GLI2 and GLI3) transcription factors in the cytoplasm (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:28965847, PubMed:35831023). When smoothened signaling is initiated, GLI transcription factors dissociate from SUFU, translocate to the nucleus and activate expression of target genes (PubMed:24311597, PubMed:28965847, PubMed:35831023). In absence of smoothened signaling, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of full-length GLI3 into transcription repressor GLI3R: SUFU participates to GLI3 processing by promoting recruitment of GSK3B to GLI3 (PubMed:24311597, PubMed:28965847). May also act as a negative regulator of beta-catenin signaling (By similarity). Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity)