• Gene id: 6608

Gene Summary

• Gene Symbol: SMO   Gene   UCSC   Ensembl
• Aliases: CRJS, FZD11, Gx, SMOH
• Gene name: smoothened, frizzled class receptor
• Alternate names: smoothened homolog, frizzled family member 11, protein Gx, seven transmembrane helix receptor, smoothened, frizzled family receptor, smoothened, seven transmembrane spanning receptor,
• Gene location: 7q32.1 (129188632: 129213547)     Exons: 8     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein comp
• OMIM: 601500

Protein Summary

• Protein general information: Q99835  
  • Name: Smoothened homolog (SMO) (Protein Gx)
  • Length: 787  
  • Mass: 86397
• Sequence:

  MAAARPARGPELPLLGLLLLLLLGDPGRGAASSGNATGPGPRSAGGSARRSAAVTGPPPPLSHCGRAAPCEPLRY
  NVCLGSVLPYGATSTLLAGDSDSQEEAHGKLVLWSGLRNAPRCWAVIQPLLCAVYMPKCENDRVELPSRTLCQAT
  RGPCAIVERERGWPDFLRCTPDRFPEGCTNEVQNIKFNSSGQCEVPLVRTDNPKSWYEDVEGCGIQCQNPLFTEA
  EHQDMHSYIAAFGAVTGLCTLFTLATFVADWRNSNRYPAVILFYVNACFFVGSIGWLAQFMDGARREIVCRADGT
  MRLGEPTSNETLSCVIIFVIVYYALMAGVVWFVVLTYAWHTSFKALGTTYQPLSGKTSYFHLLTWSLPFVLTVAI
  LAVAQVDGDSVSGICFVGYKNYRYRAGFVLAPIGLVLIVGGYFLIRGVMTLFSIKSNHPGLLSEKAASKINETML
  RLGIFGFLAFGFVLITFSCHFYDFFNQAEWERSFRDYVLCQANVTIGLPTKQPIPDCEIKNRPSLLVEKINLFAM
  FGTGIAMSTWVWTKATLLIWRRTWCRLTGQSDDEPKRIKKSKMIAKAFSKRHELLQNPGQELSFSMHTVSHDGPV
  AGLAFDLNEPSADVSSAWAQHVTKMVARRGAILPQDISVTPVATPVPPEEQANLWLVEAEISPELQKRLGRKKKR
  RKRKKEVCPLAPPPELHPPAPAPSTIPRLPQLPRQKCLVAAGAWGAGDSCRQGAWTLVSNPFCPEPSPPQDPFLP
  SAPAPVAWAHGRRQGLGPIHSRTNLMDTELMDADSDF

• Structural information:
  • Protein Domains: (65..18-)
    (/note="FZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00090"-)
  • Interpro: IPR015526  IPR000539  IPR020067  IPR036790  IPR017981   IPR026544  IPR041771  
  • Prosite: PS50038 PS50261
  • CDD: cd07451
  • PDB: 4JKV 4N4W 4O9R 4QIM 4QIN 5L7D 5L7I 5V56 5V57 6OT0
  • PDBsum: 4JKV 4N4W 4O9R 4QIM 4QIN 5L7D 5L7I 5V56 5V57 6OT0
  • DIP: 34574
  • STRING: ENSP00000249373
• Other Databases: GeneCards:  SMO  Malacards:  SMO

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0071679	commissural neuron axon guidance	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0007417	central nervous system development	IBA	biological process
GO:0005113	patched binding	IBA	molecular function
GO:0045880	positive regulation of smoothened signaling pathway	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0001503	ossification	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0007228	positive regulation of hh target transcription factor activity	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0007494	midgut development	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0021542	dentate gyrus development	IEA	biological process
GO:0021696	cerebellar cortex morphogenesis	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021910	smoothened signaling pathway involved in ventral spinal cord patterning	IEA	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0034504	protein localization to nucleus	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0051799	negative regulation of hair follicle development	IEA	biological process
GO:0060413	atrial septum morphogenesis	IEA	biological process
GO:0060684	epithelial-mesenchymal cell signaling	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0097731	9+0 non-motile cilium	IEA	cellular component
GO:2000826	regulation of heart morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001708	cell fate specification	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003140	determination of left/right asymmetry in lateral mesoderm	IEA	biological process
GO:0003323	type B pancreatic cell development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007371	ventral midline determination	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0008144	drug binding	IEA	molecular function
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030857	negative regulation of epithelial cell differentiation	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0043392	negative regulation of DNA binding	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046622	positive regulation of organ growth	IEA	biological process
GO:0048143	astrocyte activation	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048853	forebrain morphogenesis	IEA	biological process
GO:0051451	myoblast migration	IEA	biological process
GO:0060170	ciliary membrane	IEA	cellular component
GO:0060644	mammary gland epithelial cell differentiation	IEA	biological process
GO:0061113	pancreas morphogenesis	IEA	biological process
GO:0070986	left/right axis specification	IEA	biological process
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0072285	mesenchymal to epithelial transition involved in metanephric renal vesicle formation	IEA	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:2000036	regulation of stem cell population maintenance	IEA	biological process
GO:0005113	patched binding	IPI	molecular function
GO:0005113	patched binding	IPI	molecular function
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0005901	caveola	IDA	colocalizes with
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0001947	heart looping	ISS	biological process
GO:0007228	positive regulation of hh target transcription factor activity	ISS	biological process
GO:0007494	midgut development	ISS	biological process
GO:0060242	contact inhibition	IMP	biological process
GO:0061053	somite development	ISS	biological process
GO:2000826	regulation of heart morphogenesis	ISS	biological process
GO:0003140	determination of left/right asymmetry in lateral mesoderm	ISS	biological process
GO:0007224	smoothened signaling pathway	IMP	biological process
GO:0007371	ventral midline determination	ISS	biological process
GO:0048853	forebrain morphogenesis	ISS	biological process
GO:0071397	cellular response to cholesterol	ISS	biological process
GO:0005929	cilium	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0008144	drug binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0007224	smoothened signaling pathway	IMP	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0072285	mesenchymal to epithelial transition involved in metanephric renal vesicle formation	ISS	biological process
GO:0043392	negative regulation of DNA binding	ISS	biological process
GO:0007224	smoothened signaling pathway	IMP	biological process
GO:0048745	smooth muscle tissue development	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04360	Axon guidance
hsa05205	Proteoglycans in cancer
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Medulloblastoma	KEGG:H01667
Meningioma	KEGG:H01556
Basal cell carcinoma	KEGG:H00039
Medulloblastoma	KEGG:H01667
Meningioma	KEGG:H01556
Basal cell carcinoma	KEGG:H00039
pancreatic cancer	PMID:19396459
nevoid basal cell carcinoma syndrome	PMID:15308259
basal cell carcinoma	PMID:10504535
basal cell carcinoma	PMID:9422511
pancreatic ductal carcinoma	PMID:16826192
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)