Human Gene SMO (uc003vor.3)
  Description: Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.
RefSeq Summary (NM_005631): 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 complex. [provided by RefSeq, Jul 2010].
Transcript (Including UTRs)
   Position: hg19 chr7:128,828,713-128,853,385 Size: 24,673 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr7:128,828,993-128,852,292 Size: 23,300 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:128,828,713-128,853,385)mRNA (may differ from genome)Protein (787 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMO_HUMAN
DESCRIPTION: RecName: Full=Smoothened homolog; Short=SMO; AltName: Full=Protein Gx; Flags: Precursor;
FUNCTION: 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 and GLI3 in the cilia.
SUBUNIT: Interacts with ARRB2 (By similarity). Interacts with KIF7.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the G-protein coupled receptor Fz/Smo family.
SIMILARITY: Contains 1 FZ (frizzled) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SMO
CDC HuGE Published Literature: SMO

-  MalaCards Disease Associations
  MalaCards Gene Search: SMO
Diseases sorted by gene-association score: curry-jones syndrome, somatic mosaic* (1550), basal cell carcinoma 1* (636), basal cell carcinoma* (465), medulloblastoma* (197), ameloblastoma (10), keratocystic odontogenic tumor (7), basal cell nevus syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.95 RPKM in Ovary
Total median expression: 354.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -153.50280-0.548 Picture PostScript Text
3' UTR -443.321093-0.406 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000539 - Frizzled
IPR015526 - Frizzled/SFRP
IPR020067 - Frizzled_dom
IPR017981 - GPCR_2-like
IPR026544 - SMO

Pfam Domains:
PF01392 - Fz domain
PF01534 - Frizzled/Smoothened family membrane region
PF05462 - Slime mold cyclic AMP receptor

SCOP Domains:
63501 - Frizzled cysteine-rich domain

ModBase Predicted Comparative 3D Structure on Q99835
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004888 transmembrane signaling receptor activity
GO:0004930 G-protein coupled receptor activity
GO:0005113 patched binding
GO:0005515 protein binding
GO:0008144 drug binding
GO:0017147 Wnt-protein binding
GO:0042813 Wnt-activated receptor activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001503 ossification
GO:0001570 vasculogenesis
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001708 cell fate specification
GO:0001755 neural crest cell migration
GO:0001947 heart looping
GO:0002052 positive regulation of neuroblast proliferation
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003007 heart morphogenesis
GO:0003140 determination of left/right asymmetry in lateral mesoderm
GO:0003323 type B pancreatic cell development
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007224 smoothened signaling pathway
GO:0007228 positive regulation of hh target transcription factor activity
GO:0007275 multicellular organism development
GO:0007368 determination of left/right symmetry
GO:0007371 ventral midline determination
GO:0007389 pattern specification process
GO:0007417 central nervous system development
GO:0007494 midgut development
GO:0008284 positive regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0021542 dentate gyrus development
GO:0021696 cerebellar cortex morphogenesis
GO:0021794 thalamus development
GO:0021904 dorsal/ventral neural tube patterning
GO:0021910 smoothened signaling pathway involved in ventral spinal cord patterning
GO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
GO:0021953 central nervous system neuron differentiation
GO:0021987 cerebral cortex development
GO:0030857 negative regulation of epithelial cell differentiation
GO:0031069 hair follicle morphogenesis
GO:0034504 protein localization to nucleus
GO:0035264 multicellular organism growth
GO:0040018 positive regulation of multicellular organism growth
GO:0042307 positive regulation of protein import into nucleus
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043066 negative regulation of apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046622 positive regulation of organ growth
GO:0048143 astrocyte activation
GO:0048468 cell development
GO:0048565 digestive tract development
GO:0048568 embryonic organ development
GO:0048589 developmental growth
GO:0048741 skeletal muscle fiber development
GO:0048853 forebrain morphogenesis
GO:0048873 homeostasis of number of cells within a tissue
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050821 protein stabilization
GO:0051451 myoblast migration
GO:0051799 negative regulation of hair follicle development
GO:0060248 detection of cell density by contact stimulus involved in contact inhibition
GO:0060413 atrial septum morphogenesis
GO:0060644 mammary gland epithelial cell differentiation
GO:0060684 epithelial-mesenchymal cell signaling
GO:0061053 somite development
GO:0061113 pancreas morphogenesis
GO:0070986 left/right axis specification
GO:0071397 cellular response to cholesterol
GO:0072001 renal system development
GO:0072285 mesenchymal to epithelial transition involved in metanephric renal vesicle formation
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:2000036 regulation of stem cell population maintenance
GO:2000826 regulation of heart morphogenesis
GO:0035567 non-canonical Wnt signaling pathway
GO:0060070 canonical Wnt signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030666 endocytic vesicle membrane
GO:0042995 cell projection
GO:0043231 intracellular membrane-bounded organelle
GO:0060170 ciliary membrane
GO:0070062 extracellular exosome
GO:0097542 ciliary tip
GO:0005794 Golgi apparatus
GO:0005901 caveola


-  Descriptions from all associated GenBank mRNAs
  LF213729 - JP 2014500723-A/21232: Polycomb-Associated Non-Coding RNAs.
LF207062 - JP 2014500723-A/14565: Polycomb-Associated Non-Coding RNAs.
BC009989 - Homo sapiens smoothened homolog (Drosophila), mRNA (cDNA clone MGC:15193 IMAGE:4127774), complete cds.
AF120103 - Homo sapiens Gx protein mRNA, complete cds.
AB587396 - Synthetic construct DNA, clone: pF1KB5715, Homo sapiens SMO gene for smoothened homolog, without stop codon, in Flexi system.
DQ896647 - Synthetic construct Homo sapiens clone IMAGE:100011107; FLH196247.01L; RZPDo839G05153D smoothened homolog (Drosophila) (SMO) gene, encodes complete protein.
U84401 - Human smoothened mRNA, complete cds.
AF071494 - Homo sapiens Gx protein (GX) mRNA, complete cds.
MA449306 - JP 2018138019-A/21232: Polycomb-Associated Non-Coding RNAs.
MA442639 - JP 2018138019-A/14565: Polycomb-Associated Non-Coding RNAs.
LF212016 - JP 2014500723-A/19519: Polycomb-Associated Non-Coding RNAs.
JD560369 - Sequence 541393 from Patent EP1572962.
LF360938 - JP 2014500723-A/168441: Polycomb-Associated Non-Coding RNAs.
MA447593 - JP 2018138019-A/19519: Polycomb-Associated Non-Coding RNAs.
MA596515 - JP 2018138019-A/168441: Polycomb-Associated Non-Coding RNAs.
BC004332 - Homo sapiens smoothened homolog (Drosophila), mRNA (cDNA clone IMAGE:3630958), with apparent retained intron.
LF360949 - JP 2014500723-A/168452: Polycomb-Associated Non-Coding RNAs.
LF360951 - JP 2014500723-A/168454: Polycomb-Associated Non-Coding RNAs.
AF130867 - Homo sapiens smoothened mRNA, partial cds.
JD240231 - Sequence 221255 from Patent EP1572962.
JD045119 - Sequence 26143 from Patent EP1572962.
JD283044 - Sequence 264068 from Patent EP1572962.
LF360952 - JP 2014500723-A/168455: Polycomb-Associated Non-Coding RNAs.
JD212159 - Sequence 193183 from Patent EP1572962.
JD487799 - Sequence 468823 from Patent EP1572962.
JD562359 - Sequence 543383 from Patent EP1572962.
JD157543 - Sequence 138567 from Patent EP1572962.
JD192649 - Sequence 173673 from Patent EP1572962.
JD535526 - Sequence 516550 from Patent EP1572962.
JD279166 - Sequence 260190 from Patent EP1572962.
JD073611 - Sequence 54635 from Patent EP1572962.
JD307569 - Sequence 288593 from Patent EP1572962.
JD058029 - Sequence 39053 from Patent EP1572962.
JD051879 - Sequence 32903 from Patent EP1572962.
AF089720 - Homo sapiens smoothened mRNA, 3' UTR.
JD552424 - Sequence 533448 from Patent EP1572962.
JD203418 - Sequence 184442 from Patent EP1572962.
JD516033 - Sequence 497057 from Patent EP1572962.
JD503647 - Sequence 484671 from Patent EP1572962.
JD041581 - Sequence 22605 from Patent EP1572962.
JD427374 - Sequence 408398 from Patent EP1572962.
JD523960 - Sequence 504984 from Patent EP1572962.
JD476593 - Sequence 457617 from Patent EP1572962.
JD147845 - Sequence 128869 from Patent EP1572962.
JD494029 - Sequence 475053 from Patent EP1572962.
JD074388 - Sequence 55412 from Patent EP1572962.
JD554542 - Sequence 535566 from Patent EP1572962.
JD250780 - Sequence 231804 from Patent EP1572962.
JD187816 - Sequence 168840 from Patent EP1572962.
MA596526 - JP 2018138019-A/168452: Polycomb-Associated Non-Coding RNAs.
MA596528 - JP 2018138019-A/168454: Polycomb-Associated Non-Coding RNAs.
MA596529 - JP 2018138019-A/168455: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04340 - Hedgehog signaling pathway
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

Reactome (by CSHL, EBI, and GO)

Protein Q99835 (Reactome details) participates in the following event(s):

R-HSA-445124 Patched binds Smoothened
R-HSA-5624126 ARL6:GTP and the BBSome bind ciliary cargo
R-HSA-5632667 SMO dimer binds ARRB and KIF3A
R-HSA-5632671 CSNK1A1 binds SMO dimer
R-HSA-5632679 EVC2:EVC binds p-SMO
R-HSA-5633040 CSNK1A1 and ADRBK1 dissociate from p-SMO dimer
R-HSA-5632670 CSNK1A1 phosphorylates SMO dimer
R-HSA-5632674 ADRBK1 binds phosphorylated SMO dimer
R-HSA-5632672 ADRBK1 phosphorylates SMO dimer
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium
R-HSA-500792 GPCR ligand binding
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5635838 Activation of SMO
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-372790 Signaling by GPCR
R-HSA-5358351 Signaling by Hedgehog
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5617833 Cilium Assembly
R-HSA-162582 Signal Transduction
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: NM_005631, NP_005622, Q99835, SMOH, SMO_HUMAN
UCSC ID: uc003vor.3
RefSeq Accession: NM_005631
Protein: Q99835 (aka SMO_HUMAN)
CCDS: CCDS5811.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SMO:
evc (Ellis-van Creveld Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005631.4
exon count: 12CDS single in 3' UTR: no RNA size: 3772
ORF size: 2364CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 4817.00frame shift in genome: no % Coverage: 99.07
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.