HUMAN:SMO

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	SMO ( synonyms: SMOH )
Protein Name(s)	Smoothened homolog SMO Protein Gx
External Links
UniProt Identifier	SMO_HUMAN
UniProt Accessions	Q99835,
EMBL	U84401, AF114821, AF114819, AF114820, AF120103, AF071494, BC009989,
RefSeq	NP_005622.1,
Ensembl	ENST00000249373,
Pfam	PF01534, PF01392,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0005929	cilium	PMID:19190184^[1]	IEP: Inferred from Expression Pattern		C	Fig 3E. Smoothened (Smo) observed at the cilium.	complete
	GO:0001570	vasculogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0001649	osteoblast differentiation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0001649	osteoblast differentiation	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0001755	neural crest cell migration	GO_REF:0000033		PANTHER:PTHR11309_AN3	P
	GO:0001947	heart looping	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0002052	positive regulation of neuroblast proliferation	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0002053	positive regulation of mesenchymal cell proliferation	GO_REF:0000033		PANTHER:PTHR11309_AN2	P
	GO:0003007	heart morphogenesis	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0003007	heart morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0003140	determination of left/right asymmetry in lateral mesoderm	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0004871	signal transducer activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0807	F
	GO:0004872	receptor activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0675	F
	GO:0004888	transmembrane signaling receptor activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017981	F
	GO:0004930	G-protein coupled receptor activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0297	F
	GO:0005515	protein binding	PMID:19592253^[2]	IPI: Inferred from Physical Interaction	UniProtKB:Q2M1P5	F
	GO:0005737	cytoplasm	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	C
	GO:0005737	cytoplasm	GO_REF:0000033		PANTHER:PTHR11309_AN0	C
	GO:0005886	plasma membrane	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	C
	GO:0005886	plasma membrane	GO_REF:0000033		PANTHER:PTHR11309_AN0	C
	GO:0005929	cilium	GO_REF:0000033		PANTHER:PTHR11309_AN1	C
	GO:0007165	signal transduction	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0807	P
	GO:0007166	cell surface receptor linked signaling pathway	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000539	P
	GO:0007166	cell surface receptor linked signaling pathway	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017981	P
	GO:0007186	G-protein coupled receptor protein signaling pathway	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0297	P
	GO:0007224	smoothened signaling pathway	PMID:17850284^[3]	IEP: Inferred from Expression Pattern		P
	GO:0007224	smoothened signaling pathway	PMID:9422511^[4]	IMP: Inferred from Mutant Phenotype		P
	GO:0007228	positive regulation of hh target transcription factor activity	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0007275	multicellular organismal development	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0217	P
	GO:0007283	spermatogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0007283	spermatogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0007368	determination of left/right symmetry	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0007494	midgut development	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0008406	gonad development	GO_REF:0000033		PANTHER:PTHR11309_AN0	P
	GO:0009611	response to wounding	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0010002	cardioblast differentiation	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0010033	response to organic substance	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000539	C
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017981	C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016020	membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0162	C
	GO:0016021	integral to membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0812	C
	GO:0017147	Wnt-protein binding	GO_REF:0000033		PANTHER:PTHR11309_AN0	F
	GO:0021508	floor plate formation	GO_REF:0000033		PANTHER:PTHR11309_AN2	P
	GO:0021561	facial nerve development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0021561	facial nerve development	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0021696	cerebellar cortex morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0021904	dorsal/ventral neural tube patterning	GO_REF:0000033		PANTHER:PTHR11309_AN2	P
	GO:0021910	smoothened signaling pathway involved in ventral spinal cord patterning	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0021953	central nervous system neuron differentiation	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0021984	adenohypophysis development	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0030165	PDZ domain binding	GO_REF:0000033		PANTHER:PTHR11309_AN0	F
	GO:0031017	exocrine pancreas development	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0031076	embryonic camera-type eye development	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0031102	neuron projection regeneration	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0031102	neuron projection regeneration	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0032474	otolith morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0033687	osteoblast proliferation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0042475	odontogenesis of dentine-containing tooth	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0042693	muscle cell fate commitment	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0042813	Wnt receptor activity	GO_REF:0000033		PANTHER:PTHR11309_AN0	F
	GO:0043025	neuronal cell body	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	C
	GO:0043025	neuronal cell body	GO_REF:0000033		PANTHER:PTHR11309_AN1	C
	GO:0043066	negative regulation of apoptosis	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0045880	positive regulation of smoothened signaling pathway	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0048557	embryonic digestive tract morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0048663	neuron fate commitment	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0048702	embryonic neurocranium morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0048703	embryonic viscerocranium morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0048752	semicircular canal morphogenesis	GO_REF:0000033		PANTHER:PTHR11309_AN4	P
	GO:0048846	axon extension involved in axon guidance	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000011356	P
	GO:0048846	axon extension involved in axon guidance	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0048853	forebrain morphogenesis	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0050679	positive regulation of epithelial cell proliferation	GO_REF:0000033		PANTHER:PTHR11309_AN2	P
	GO:0060070	canonical Wnt receptor signaling pathway	GO_REF:0000033		PANTHER:PTHR11309_AN0	P
	GO:0060248	detection of cell density by contact stimulus involved in contact inhibition	PMID:9422511^[4]	IMP: Inferred from Mutant Phenotype		P
	GO:0060830	ciliary receptor clustering involved in smoothened signaling pathway	GO_REF:0000033		PANTHER:PTHR11309_AN1	P
	GO:0061053	somite development	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P56726	P
	GO:0072001	renal system development	PMID:17850284^[3]	IEP: Inferred from Expression Pattern		P
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Marion V et al. (2009) Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 106: 1820-5 PubMed GONUTS page
↑ Endoh-Yamagami S et al. (2009) The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol 19: 1320-6 PubMed GONUTS page
↑ ^3.0 ^3.1 Jenkins D et al. (2007) Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development. J Anat 211: 620-9 PubMed GONUTS page
↑ ^4.0 ^4.1 Xie J et al. (1998) Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391: 90-2 PubMed GONUTS page

[PMID:19190184-0] Marion V et al. (2009) Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 106: 1820-5 PubMed GONUTS page

[PMID:19592253-1] Endoh-Yamagami S et al. (2009) The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol 19: 1320-6 PubMed GONUTS page

[PMID:17850284-2] 3.0 ^3.1 Jenkins D et al. (2007) Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development. J Anat 211: 620-9 PubMed GONUTS page

[PMID:9422511-3] 4.0 ^4.1 Xie J et al. (1998) Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391: 90-2 PubMed GONUTS page

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HUMAN:SMO

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