• Gene id: 51684

Gene Summary

• Gene Symbol: SUFU   Gene   UCSC   Ensembl
• Aliases: JBTS32, PRO1280, SUFUH, SUFUXL
• Gene name: SUFU negative regulator of hedgehog signaling
• Alternate names: suppressor of fused homolog,
• Gene location: 10q24.32 (102502800: 102633534)     Exons: 16     NC_000010.11
• Gene summary(Entrez): The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedge
• OMIM: 607035

Protein Summary

• Protein general information: Q9UMX1  
  • Name: Suppressor of fused homolog (SUFUH)
  • Length: 484  
  • Mass: 53947
  • 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
• Sequence:

  MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKYWLGGPDPLDYVSMYR
  NVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFELTFRLKRETGESAPPTWPAELMQGLARYVFQ
  SENTFCSGDHVSWHSPLDNSESRIQHMLLTEDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRT
  VPIAGGPWLITDMRRGETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRL
  SGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHELIRTRQLESVHLKFNQ
  ESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATEEHPYAAHGPWLQILLTEEFVEKMLEDLEDL
  TSPEEFKLPKEYSWPEKKLKVSILPDVVFDSPLH

• Structural information:
  • Interpro: IPR020941  IPR024314  IPR038489  IPR037181  IPR007768   IPR016591  
  • PDB: 1M1L 4BL8 4BL9 4BLA 4BLB 4BLD 4KM8 4KM9 4KMD 4KMH
  • PDBsum: 1M1L 4BL8 4BL9 4BLA 4BLB 4BLD 4KM8 4KM9 4KMD 4KMH
  • STRING: ENSP00000358918
• Other Databases: GeneCards:  SUFU  Malacards:  SUFU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0042994	cytoplasmic sequestering of transcription factor	IBA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IBA	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005634	nucleus	IMP	cellular component
GO:0005737	cytoplasm	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045879	negative regulation of smoothened signaling pathway	IMP	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0006508	proteolysis	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0060976	coronary vasculature development	IEA	biological process
GO:0021513	spinal cord dorsal/ventral patterning	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:1901621	negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0042994	cytoplasmic sequestering of transcription factor	IEA	biological process
GO:0035904	aorta development	IEA	biological process
GO:0021776	smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA	biological process
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003281	ventricular septum development	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042308	negative regulation of protein import into nucleus	TAS	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	TAS	biological process
GO:0045668	negative regulation of osteoblast differentiation	TAS	biological process
GO:0045879	negative regulation of smoothened signaling pathway	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005737	cytoplasm	NAS	cellular component
GO:0003714	transcription corepressor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Medulloblastoma	KEGG:H01667
Meningioma	KEGG:H01556
Basal cell nevus syndrome	KEGG:H00895
Joubert syndrome	KEGG:H00530
Medulloblastoma	KEGG:H01667
Meningioma	KEGG:H01556
Basal cell nevus syndrome	KEGG:H00895
medulloblastoma	PMID:12068298
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R