UniProtKB - Q99835 (SMO_HUMAN)

BLAST

>sp|Q99835|SMO_HUMAN Smoothened homolog OS=Homo sapiens OX=9606 GN=SMO PE=1 SV=1
MAAARPARGPELPLLGLLLLLLLGDPGRGAASSGNATGPGPRSAGGSARRSAAVTGPPPP
LSHCGRAAPCEPLRYNVCLGSVLPYGATSTLLAGDSDSQEEAHGKLVLWSGLRNAPRCWA
VIQPLLCAVYMPKCENDRVELPSRTLCQATRGPCAIVERERGWPDFLRCTPDRFPEGCTN
EVQNIKFNSSGQCEVPLVRTDNPKSWYEDVEGCGIQCQNPLFTEAEHQDMHSYIAAFGAV
TGLCTLFTLATFVADWRNSNRYPAVILFYVNACFFVGSIGWLAQFMDGARREIVCRADGT
MRLGEPTSNETLSCVIIFVIVYYALMAGVVWFVVLTYAWHTSFKALGTTYQPLSGKTSYF
HLLTWSLPFVLTVAILAVAQVDGDSVSGICFVGYKNYRYRAGFVLAPIGLVLIVGGYFLI
RGVMTLFSIKSNHPGLLSEKAASKINETMLRLGIFGFLAFGFVLITFSCHFYDFFNQAEW
ERSFRDYVLCQANVTIGLPTKQPIPDCEIKNRPSLLVEKINLFAMFGTGIAMSTWVWTKA
TLLIWRRTWCRLTGQSDDEPKRIKKSKMIAKAFSKRHELLQNPGQELSFSMHTVSHDGPV
AGLAFDLNEPSADVSSAWAQHVTKMVARRGAILPQDISVTPVATPVPPEEQANLWLVEAE
ISPELQKRLGRKKKRRKRKKEVCPLAPPPELHPPAPAPSTIPRLPQLPRQKCLVAAGAWG
AGDSCRQGAWTLVSNPFCPEPSPPQDPFLPSAPAPVAWAHGRRQGLGPIHSRTNLMDTEL
MDADSDF

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History
Entry version 186 (12 Sep 2018)
Sequence version 1 (01 May 1997)
Previous versions | rss
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Protein

Smoothened homolog

Gene

SMO

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in the cilia (PubMed:19592253). Interacts with DLG5 at the ciliary base to induce the accumulation of KIF7 and GLI2 at the ciliary tip for GLI2 activation (By similarity).By similarity1 Publication

GO - Molecular functionⁱ

drug binding
Source: UniProtKB
Inferred from direct assayⁱ
- 19304771
- 21177415
G-protein coupled receptor activity Source: GO_Central
patched binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 9811851
Wnt-protein binding Source: GO_Central

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anterior/posterior pattern specification Source: Ensembl
astrocyte activation Source: Ensembl
atrial septum morphogenesis Source: Ensembl
cell fate specification Source: Ensembl
cellular response to cholesterol Source: BHF-UCL
central nervous system neuron differentiation Source: Ensembl
cerebellar cortex morphogenesis Source: Ensembl
cerebral cortex development Source: Ensembl
dentate gyrus development Source: Ensembl
detection of cell density by contact stimulus involved in contact inhibition
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 9422511
determination of left/right asymmetry in lateral mesoderm Source: BHF-UCL
dorsal/ventral neural tube patterning Source: Ensembl
epithelial-mesenchymal cell signaling Source: Ensembl
forebrain morphogenesis Source: BHF-UCL
hair follicle morphogenesis Source: Ensembl
heart looping Source: BHF-UCL
homeostasis of number of cells within a tissue Source: Ensembl
in utero embryonic development Source: Ensembl
left/right axis specification Source: Ensembl
mammary gland epithelial cell differentiation Source: Ensembl
mesenchymal to epithelial transition involved in metanephric renal vesicle formation Source: UniProtKB
midgut development Source: BHF-UCL
multicellular organism growth Source: Ensembl
myoblast migration Source: Ensembl
negative regulation of apoptotic process Source: Ensembl
negative regulation of DNA binding Source: UniProtKB
negative regulation of epithelial cell differentiation Source: Ensembl
negative regulation of gene expression Source: UniProtKB
negative regulation of hair follicle development Source: Ensembl
negative regulation of transcription by RNA polymerase II Source: Ensembl
neural crest cell migration Source: Ensembl
odontogenesis of dentin-containing tooth Source: Ensembl
osteoblast differentiation Source: Ensembl
pancreas morphogenesis Source: Ensembl
positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
positive regulation of epithelial cell proliferation Source: Ensembl
positive regulation of gene expression Source: UniProtKB
positive regulation of hh target transcription factor activity Source: BHF-UCL
positive regulation of mesenchymal cell proliferation Source: Ensembl
positive regulation of multicellular organism growth Source: Ensembl
positive regulation of neuroblast proliferation Source: Ensembl
positive regulation of organ growth Source: Ensembl
positive regulation of protein import into nucleus Source: Ensembl
positive regulation of smoothened signaling pathway Source: Ensembl
positive regulation of transcription by RNA polymerase II Source: Ensembl
protein localization to nucleus Source: Ensembl
protein stabilization Source: Ensembl
regulation of heart morphogenesis Source: BHF-UCL
regulation of stem cell population maintenance Source: Ensembl
renal system development
Source: UniProtKB
Inferred from expression patternⁱ
- 17850284
skeletal muscle fiber development Source: Ensembl
smoothened signaling pathway
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 19304771
- 21177415
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Source: Ensembl
smoothened signaling pathway involved in ventral spinal cord patterning Source: Ensembl
somite development Source: BHF-UCL
thalamus development Source: Ensembl
type B pancreatic cell development Source: Ensembl
vasculogenesis Source: Ensembl
ventral midline determination Source: BHF-UCL
Wnt signaling pathway Source: GOC

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, G-protein coupled receptor, Receptor, Transducer

Molecular function

Developmental protein, G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

Reactomeⁱ	R-HSA-373080 Class B/2 (Secretin family receptors) R-HSA-5610787 Hedgehog 'off' state R-HSA-5620922 BBSome-mediated cargo-targeting to cilium R-HSA-5632684 Hedgehog 'on' state R-HSA-5635838 Activation of SMO
SignaLinkⁱ	Q99835
SIGNORⁱ	Q99835

Protein family/group databases

TCDBⁱ

9.A.14.16.4 the g-protein-coupled receptor (gpcr) family

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Smoothened homolog Short name: SMO Alternative name(s): Protein Gx
Gene namesⁱ	Name:SMO Synonyms:SMOH
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000128602.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11119 SMO
MIMⁱ	601500 gene
neXtProtⁱ	NX_Q99835

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	28 – 233	ExtracellularSequence analysisAdd BLAST	206
Transmembraneⁱ	234 – 254	Helical; Name=1Sequence analysisAdd BLAST	21
Topological domainⁱ	255 – 262	CytoplasmicSequence analysis	8
Transmembraneⁱ	263 – 283	Helical; Name=2Sequence analysisAdd BLAST	21
Topological domainⁱ	284 – 314	ExtracellularSequence analysisAdd BLAST	31
Transmembraneⁱ	315 – 335	Helical; Name=3Sequence analysisAdd BLAST	21
Topological domainⁱ	336 – 358	CytoplasmicSequence analysisAdd BLAST	23
Transmembraneⁱ	359 – 379	Helical; Name=4Sequence analysisAdd BLAST	21
Topological domainⁱ	380 – 402	ExtracellularSequence analysisAdd BLAST	23
Transmembraneⁱ	403 – 423	Helical; Name=5Sequence analysisAdd BLAST	21
Topological domainⁱ	424 – 451	CytoplasmicSequence analysisAdd BLAST	28
Transmembraneⁱ	452 – 472	Helical; Name=6Sequence analysisAdd BLAST	21
Topological domainⁱ	473 – 524	ExtracellularSequence analysisAdd BLAST	52
Transmembraneⁱ	525 – 545	Helical; Name=7Sequence analysisAdd BLAST	21
Topological domainⁱ	546 – 787	CytoplasmicSequence analysisAdd BLAST	242

Keywords - Cellular componentⁱ

Cell projection, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Curry-Jones syndrome (CRJS)2 Publications

The disease is caused by mutations affecting the gene represented in this entry. 8 individuals have been identified with the disease-causing mutation Phe-412 and all were mosaic. The mutation could not be reliably detected in blood, greatest success rates were obtained with affected tissues obtained by invasive procedures. It is thought that the mutation has arisen postzygotically early during embryonic development (PubMed:27236920). This mutation has also been identified in ameloblastoma, medulloblastoma, meningioma, and basal cell carcinoma, and has been reported as the oncogenic driver in some of these tumors (PubMed:24859340).2 Publications

Disease descriptionA multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	6608
MalaCards human disease database More...MalaCardsⁱ	SMO
MIMⁱ	601707 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000128602
PharmGKBⁱ	PA35968

Chemistry databases

ChEMBLⁱ	CHEMBL5971
Drug and drug target database More...DrugBankⁱ	DB01047 Fluocinonide DB06786 Halcinonide DB09143 Sonidegib DB08828 Vismodegib
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	239

Polymorphism and mutation databases

BioMutaⁱ	SMO
DMDMⁱ	6226142

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 27	Sequence analysisAdd BLAST		27
ChainⁱPRO_0000013015	28 – 787	Smoothened homologAdd BLAST		760

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	35	N-linked (GlcNAc...) asparagineSequence analysis	1
Disulfide bondⁱ	70 ↔ 134	PROSITE-ProRule annotation
Disulfide bondⁱ	78 ↔ 127	PROSITE-ProRule annotation
Disulfide bondⁱ	118 ↔ 154	PROSITE-ProRule annotation
Disulfide bondⁱ	147 ↔ 169	PROSITE-ProRule annotation
Glycosylationⁱ	188	N-linked (GlcNAc...) asparagineSequence analysis	1
Disulfide bondⁱ	193 ↔ 213	PROSITE-ProRule annotation1 Publication
Disulfide bondⁱ	217 ↔ 295	PROSITE-ProRule annotation1 Publication
Glycosylationⁱ	309	N-linked (GlcNAc...) asparagineSequence analysis	1
Disulfide bondⁱ	314 ↔ 390	PROSITE-ProRule annotation1 Publication
Disulfide bondⁱ	490 ↔ 507	PROSITE-ProRule annotation1 Publication

Keywords - PTMⁱ

Disulfide bond, Glycoprotein

Proteomic databases

EPDⁱ	Q99835
PaxDbⁱ	Q99835
PeptideAtlas More...PeptideAtlasⁱ	Q99835
PRIDEⁱ	Q99835
ProteomicsDBⁱ	78499

PTM databases

iPTMnetⁱ	Q99835
PhosphoSitePlusⁱ	Q99835

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000128602 Expressed in 181 organ(s), highest expression level in left ovary
CleanExⁱ	HS_SMO
ExpressionAtlasⁱ	Q99835 baseline and differential
Genevisibleⁱ	Q99835 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB011446

HPAⁱ

CAB011446

Interactionⁱ

Subunit structureⁱ

Homodimer (PubMed:23636324). Interacts with ARRB2 (By similarity). Interacts with KIF7 (PubMed:19592253). Interacts with BBS5 and BBS7; the interactions are indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO (PubMed:22072986). Interacts with DLG5 and SDCBP (By similarity). Interacts with GAS8/DRC4 (PubMed:21659505).By similarity4 Publications

GO - Molecular functionⁱ

patched binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 9811851
Wnt-protein binding Source: GO_Central

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	112492, 8 interactors
Database of interacting proteins More...DIPⁱ	DIP-34574N
IntActⁱ	Q99835, 7 interactors
Molecular INTeraction database More...MINTⁱ	Q99835
STRINGⁱ	9606.ENSP00000249373

Chemistry databases

BindingDBⁱ

Q99835

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	65 – 67	Combined sources	3
Beta strandⁱ	76 – 78	Combined sources	3
Beta strandⁱ	86 – 88	Combined sources	3
Beta strandⁱ	90 – 92	Combined sources	3
Helixⁱ	99 – 109	Combined sources	11
Helixⁱ	110 – 113	Combined sources	4
Helixⁱ	116 – 130	Combined sources	15
Beta strandⁱ	136 – 140	Combined sources	5
Helixⁱ	144 – 151	Combined sources	8
Turnⁱ	152 – 154	Combined sources	3
Helixⁱ	155 – 160	Combined sources	6
Turnⁱ	165 – 167	Combined sources	3
Turnⁱ	171 – 173	Combined sources	3
Turnⁱ	182 – 184	Combined sources	3
Beta strandⁱ	190 – 192	Combined sources	3
Beta strandⁱ	197 – 199	Combined sources	3
Helixⁱ	203 – 205	Combined sources	3
Beta strandⁱ	210 – 218	Combined sources	9
Helixⁱ	224 – 254	Combined sources	31
Helixⁱ	256 – 259	Combined sources	4
Turnⁱ	262 – 265	Combined sources	4
Helixⁱ	266 – 282	Combined sources	17
Helixⁱ	283 – 285	Combined sources	3
Helixⁱ	289 – 294	Combined sources	6
Beta strandⁱ	299 – 301	Combined sources	3
Beta strandⁱ	304 – 306	Combined sources	3
Beta strandⁱ	308 – 310	Combined sources	3
Helixⁱ	313 – 347	Combined sources	35
Turnⁱ	354 – 356	Combined sources	3
Helixⁱ	361 – 378	Combined sources	18
Beta strandⁱ	381 – 384	Combined sources	4
Turnⁱ	385 – 388	Combined sources	4
Beta strandⁱ	389 – 395	Combined sources	7
Helixⁱ	397 – 403	Combined sources	7
Helixⁱ	405 – 432	Combined sources	28
Beta strandⁱ	436 – 442	Combined sources	7
Helixⁱ	443 – 492	Combined sources	50
Beta strandⁱ	501 – 503	Combined sources	3
Helixⁱ	515 – 532	Combined sources	18
Helixⁱ	533 – 536	Combined sources	4
Helixⁱ	539 – 548	Combined sources	10
Beta strandⁱ	554 – 558	Combined sources	5

Show more details

3D structure databases

ProteinModelPortalⁱ	Q99835
SMRⁱ	Q99835
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	65 – 181	FZPROSITE-ProRule annotationAdd BLAST		117

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	538 – 569	Interaction with BBS5 and BBS71 PublicationAdd BLAST		32
Regionⁱ	581 – 593	Interaction with DLG5By similarityAdd BLAST		13

Sequence similaritiesⁱ

Belongs to the G-protein coupled receptor Fz/Smo family.Curated

Keywords - Domainⁱ

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3577 Eukaryota ENOG410XRC8 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118864
HOGENOMⁱ	HOG000252964
HOVERGENⁱ	HBG000352
InParanoidⁱ	Q99835
KEGG Orthology (KO) More...KOⁱ	K06226
OMAⁱ	KNSNRYP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G04OK
PhylomeDBⁱ	Q99835
TreeFamⁱ	TF106460

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd15030 7tmF_SMO_homolog, 1 hit
Gene3Dⁱ	1.10.2000.10, 1 hit
InterProⁱ	View protein in InterPro IPR015526 Frizzled/SFRP IPR000539 Frizzled/Smoothened_TM IPR020067 Frizzled_dom IPR036790 Frizzled_dom_sf IPR017981 GPCR_2-like IPR026544 SMO IPR035683 SMO_7TM
PANTHERⁱ	PTHR11309 PTHR11309, 1 hit PTHR11309:SF35 PTHR11309:SF35, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01534 Frizzled, 1 hit PF01392 Fz, 1 hit
PRINTSⁱ	PR00489 FRIZZLED
SMARTⁱ	View protein in SMART SM00063 FRI, 1 hit SM01330 Frizzled, 1 hit
SUPFAMⁱ	SSF63501 SSF63501, 1 hit
PROSITEⁱ	View protein in PROSITE PS50038 FZ, 1 hit PS50261 G_PROTEIN_RECEP_F2_4, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.ⁱShow all

Q99835-1 [UniParc]FASTA Add to basket

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        10         20         30         40         50
MAAARPARGP ELPLLGLLLL LLLGDPGRGA ASSGNATGPG PRSAGGSARR 
        60         70         80         90        100
SAAVTGPPPP LSHCGRAAPC EPLRYNVCLG SVLPYGATST LLAGDSDSQE 
       110        120        130        140        150
EAHGKLVLWS GLRNAPRCWA VIQPLLCAVY MPKCENDRVE LPSRTLCQAT 
       160        170        180        190        200
RGPCAIVERE RGWPDFLRCT PDRFPEGCTN EVQNIKFNSS GQCEVPLVRT 
       210        220        230        240        250
DNPKSWYEDV EGCGIQCQNP LFTEAEHQDM HSYIAAFGAV TGLCTLFTLA 
       260        270        280        290        300
TFVADWRNSN RYPAVILFYV NACFFVGSIG WLAQFMDGAR REIVCRADGT 
       310        320        330        340        350
MRLGEPTSNE TLSCVIIFVI VYYALMAGVV WFVVLTYAWH TSFKALGTTY 
       360        370        380        390        400
QPLSGKTSYF HLLTWSLPFV LTVAILAVAQ VDGDSVSGIC FVGYKNYRYR 
       410        420        430        440        450
AGFVLAPIGL VLIVGGYFLI RGVMTLFSIK SNHPGLLSEK AASKINETML 
       460        470        480        490        500
RLGIFGFLAF GFVLITFSCH FYDFFNQAEW ERSFRDYVLC QANVTIGLPT 
       510        520        530        540        550
KQPIPDCEIK NRPSLLVEKI NLFAMFGTGI AMSTWVWTKA TLLIWRRTWC 
       560        570        580        590        600
RLTGQSDDEP KRIKKSKMIA KAFSKRHELL QNPGQELSFS MHTVSHDGPV 
       610        620        630        640        650
AGLAFDLNEP SADVSSAWAQ HVTKMVARRG AILPQDISVT PVATPVPPEE 
       660        670        680        690        700
QANLWLVEAE ISPELQKRLG RKKKRRKRKK EVCPLAPPPE LHPPAPAPST 
       710        720        730        740        750
IPRLPQLPRQ KCLVAAGAWG AGDSCRQGAW TLVSNPFCPE PSPPQDPFLP 
       760        770        780 
SAPAPVAWAH GRRQGLGPIH SRTNLMDTEL MDADSDF

Length:787

Mass (Da):86,397

Last modified:May 1, 1997 - v1

Checksum:ⁱ8B4C459B34D13F83

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation
	H7C509	H7C509_HUMAN		Smoothened homolog Smoothened homolog	SMO	151	Annotation score:
	H7C5S9	H7C5S9_HUMAN		Smoothened homolog Smoothened homolog	SMO	70	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_077087	412	L → F in CRJS; constitutive activation of the smoothened signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs879255280EnsemblClinVar.	1
Natural variantⁱVAR_037891	473	D → H. Corresponds to variant dbSNP:rs17710891EnsemblClinVar.	1
Natural variantⁱVAR_007848	535	W → L in basal cell carcinoma and ameloblastoma samples; somatic mutation; constitutive activation of the smoothened signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs121918347EnsemblClinVar.	1
Natural variantⁱVAR_007849	562	R → Q in basal cell carcinoma samples; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121918348EnsemblClinVar.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U84401 mRNA Translation: AAB41788.1 AF114821, AF114819, AF114820 Genomic DNA Translation: AAD17202.1 AF120103 mRNA Translation: AAF31757.1 AF071494 mRNA Translation: AAC24863.1 CH236950 Genomic DNA Translation: EAL24102.1 CH471070 Genomic DNA Translation: EAW83715.1 BC009989 mRNA Translation: AAH09989.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS5811.1
NCBI Reference Sequences More...RefSeqⁱ	NP_005622.1, NM_005631.4
UniGeneⁱ	Hs.437846

Genome annotation databases

Ensemblⁱ	ENST00000249373; ENSP00000249373; ENSG00000128602
GeneIDⁱ	6608
KEGGⁱ	hsa:6608
UCSC genome browser More...UCSCⁱ	uc003vor.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q99835	Smoothened, frizzled class receptor		AOTNA		790	UniRef90_Q99835
SMO isoform 1		PONAB		789
Smoothened, frizzled class receptor		Cebus capucinus imitator		789
Smoothened, frizzled class receptor		CALJA		787
Smoothened, frizzled class receptor		CHLSB		787
+78

Protein	Similar proteins		Species	Score	Length	Source
Q99835	Smoothened homolog (Fragment)		CHICK		794	UniRef50_Q99835
Smoothened, frizzled class receptor		AOTNA		790
Smoothened, frizzled class receptor		Cebus capucinus imitator		789
SMO isoform 1		PONAB		789
Smoothened, frizzled class receptor		CALJA		787
+129

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U84401 mRNA Translation: AAB41788.1 AF114821, AF114819, AF114820 Genomic DNA Translation: AAD17202.1 AF120103 mRNA Translation: AAF31757.1 AF071494 mRNA Translation: AAC24863.1 CH236950 Genomic DNA Translation: EAL24102.1 CH471070 Genomic DNA Translation: EAW83715.1 BC009989 mRNA Translation: AAH09989.1
CCDSⁱ	CCDS5811.1
RefSeqⁱ	NP_005622.1, NM_005631.4
UniGeneⁱ	Hs.437846

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4JKV	X-ray	2.45	A/B	190-555	[»]
	4N4W	X-ray	2.80	A	190-555	[»]
	4O9R	X-ray	3.20	A	190-433	[»]
				A	441-555	[»]
	4QIM	X-ray	2.61	A	190-433	[»]
				A	441-555	[»]
	4QIN	X-ray	2.60	A	190-433	[»]
				A	441-555	[»]
	5L7D	X-ray	3.20	A/B	32-428	[»]
				A/B	443-555	[»]
	5L7I	X-ray	3.30	A/B	32-428	[»]
				A/B	443-555	[»]
	5V56	X-ray	2.90	A/B	53-437	[»]
				A/B	444-558	[»]
	5V57	X-ray	3.00	A/B	58-437	[»]
				A/B	444-558	[»]
ProteinModelPortalⁱ	Q99835
SMRⁱ	Q99835
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	112492, 8 interactors
DIPⁱ	DIP-34574N
IntActⁱ	Q99835, 7 interactors
MINTⁱ	Q99835
STRINGⁱ	9606.ENSP00000249373

Chemistry databases

BindingDBⁱ	Q99835
ChEMBLⁱ	CHEMBL5971
DrugBankⁱ	DB01047 Fluocinonide DB06786 Halcinonide DB09143 Sonidegib DB08828 Vismodegib
GuidetoPHARMACOLOGYⁱ	239

Protein family/group databases

TCDBⁱ	9.A.14.16.4 the g-protein-coupled receptor (gpcr) family
GPCRDBⁱ	Search...

PTM databases

iPTMnetⁱ	Q99835
PhosphoSitePlusⁱ	Q99835

Polymorphism and mutation databases

BioMutaⁱ	SMO
DMDMⁱ	6226142

Proteomic databases

EPDⁱ	Q99835
PaxDbⁱ	Q99835
PeptideAtlasⁱ	Q99835
PRIDEⁱ	Q99835
ProteomicsDBⁱ	78499

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	6608
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000249373; ENSP00000249373; ENSG00000128602
GeneIDⁱ	6608
KEGGⁱ	hsa:6608
UCSCⁱ	uc003vor.4 human

Organism-specific databases

CTDⁱ	6608
DisGeNETⁱ	6608
EuPathDBⁱ	HostDB:ENSG00000128602.9
GeneCardsⁱ	SMO
HGNCⁱ	HGNC:11119 SMO
HPAⁱ	CAB011446
MalaCardsⁱ	SMO
MIMⁱ	601500 gene 601707 phenotype
neXtProtⁱ	NX_Q99835
OpenTargetsⁱ	ENSG00000128602
PharmGKBⁱ	PA35968
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3577 Eukaryota ENOG410XRC8 LUCA
GeneTreeⁱ	ENSGT00760000118864
HOGENOMⁱ	HOG000252964
HOVERGENⁱ	HBG000352
InParanoidⁱ	Q99835
KOⁱ	K06226
OMAⁱ	KNSNRYP
OrthoDBⁱ	EOG091G04OK
PhylomeDBⁱ	Q99835
TreeFamⁱ	TF106460

Enzyme and pathway databases

Reactomeⁱ	R-HSA-373080 Class B/2 (Secretin family receptors) R-HSA-5610787 Hedgehog 'off' state R-HSA-5620922 BBSome-mediated cargo-targeting to cilium R-HSA-5632684 Hedgehog 'on' state R-HSA-5635838 Activation of SMO
SignaLinkⁱ	Q99835
SIGNORⁱ	Q99835

Miscellaneous databases

ChiTaRSⁱ	SMO human
GeneWikiⁱ	Smoothened
GenomeRNAiⁱ	6608
Protein Ontology More...PROⁱ	PR:Q99835
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000128602 Expressed in 181 organ(s), highest expression level in left ovary
CleanExⁱ	HS_SMO
ExpressionAtlasⁱ	Q99835 baseline and differential
Genevisibleⁱ	Q99835 HS

Family and domain databases

CDDⁱ	cd15030 7tmF_SMO_homolog, 1 hit
Gene3Dⁱ	1.10.2000.10, 1 hit
InterProⁱ	View protein in InterPro IPR015526 Frizzled/SFRP IPR000539 Frizzled/Smoothened_TM IPR020067 Frizzled_dom IPR036790 Frizzled_dom_sf IPR017981 GPCR_2-like IPR026544 SMO IPR035683 SMO_7TM
PANTHERⁱ	PTHR11309 PTHR11309, 1 hit PTHR11309:SF35 PTHR11309:SF35, 1 hit
Pfamⁱ	View protein in Pfam PF01534 Frizzled, 1 hit PF01392 Fz, 1 hit
PRINTSⁱ	PR00489 FRIZZLED
SMARTⁱ	View protein in SMART SM00063 FRI, 1 hit SM01330 Frizzled, 1 hit
SUPFAMⁱ	SSF63501 SSF63501, 1 hit
PROSITEⁱ	View protein in PROSITE PS50038 FZ, 1 hit PS50261 G_PROTEIN_RECEP_F2_4, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	SMO_HUMAN
Accessionⁱ	Q99835Primary (citable) accession number: Q99835 Secondary accession number(s): A4D1K5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
	Last sequence update:	May 1, 1997
	Last modified:	September 12, 2018
	This is version 186 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

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Supporting data

UniProtKB - Q99835 (SMO_HUMAN)

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Smoothened homolog

SMO

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Extracellular region or secreted

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Computationally mapped potential isoform sequencesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ