Entity Details

Primary name SMO_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99835
EntryNameSMO_HUMAN
FullNameSmoothened homolog
TaxID9606
Evidenceevidence at protein level
Length787
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesSMO

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
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:0003140 determination of left/right asymmetry in lateral mesoderm
GO:0003323 type B pancreatic cell development
GO:0004930 G protein-coupled receptor activity
GO:0005113 patched binding
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0007224 smoothened signaling pathway
GO:0007228 positive regulation of hh target transcription factor activity
GO:0007371 ventral midline determination
GO:0007417 central nervous system development
GO:0007494 midgut development
GO:0009952 anterior/posterior pattern specification
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0016021 integral component of membrane
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:0030335 positive regulation of cell migration
GO:0030425 dendrite
GO:0030666 endocytic vesicle membrane
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:0043231 intracellular membrane-bounded organelle
GO:0043392 negative regulation of DNA binding
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046622 positive regulation of organ growth
GO:0048143 astrocyte activation
GO:0048741 skeletal muscle fiber development
GO:0048745 smooth muscle tissue 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:0060170 ciliary membrane
GO:0060242 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:0070062 extracellular exosome
GO:0070986 left/right axis specification
GO:0071397 cellular response to cholesterol
GO:0071679 commissural neuron axon guidance
GO:0072285 mesenchymal to epithelial transition involved in metanephric renal vesicle formation
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:0097542 ciliary tip
GO:0097731 9+0 non-motile cilium
GO:2000036 regulation of stem cell population maintenance
GO:2000826 regulation of heart morphogenesis

Subcellular Location

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Subcellular Location
Cell projection
Membrane

Domains

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DomainNameCategoryType
IPR000539 Frizzled/Smoothened, transmembrane domainDomainDomain
IPR015526 Frizzled/secreted frizzled-related proteinFamilyFamily
IPR017981 GPCR, family 2-likeDomainDomain
IPR020067 Frizzled domainDomainDomain
IPR026544 SmoothenedFamilyFamily
IPR035683 Smoothened, transmembrane domainDomainDomain
IPR036790 Frizzled cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR041771 Smoothened, cysteine-rich domainDomainDomain

Diseases

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Disease IDSourceNameDescription
601707 OMIMCurry-Jones syndrome (CRJS)A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. The disease is caused by variants 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).

Drugs

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DrugNameSourceType
DB01047 FluocinonideDrugbanksmall molecule
DB06786 HalcinonideDrugbanksmall molecule
DB08828 VismodegibDrugbanksmall molecule
DB09143 SonidegibDrugbanksmall molecule
DB11978 GlasdegibDrugbanksmall molecule

Interactions

36 interactions

InteractorPartnerSourcesPublicationsLink
SMO_HUMANILK_HUMANMINT23877428 details
SMO_HUMANARRB2_HUMANMINT23877428 details
SMO_HUMANARRB1_HUMANMINT23877428 details
SMO_HUMANARV1_HUMANBioGRID, MINT28298427 details
SMO_HUMANNFIP1_HUMANBioGRID, MINT28298427 details
SMO_HUMANJPH3_HUMANBioGRID, MINT28298427 details
SMO_HUMANNIPA1_HUMANBioGRID, MINT28298427 details
SMO_HUMANS41A3_HUMANBioGRID, MINT28298427 details
SMO_HUMANSSPN_HUMANBioGRID, MINT28298427 details
SMO_HUMANRPN2_HUMANBioGRID, MINT28298427 details
SMO_HUMANOBRG_HUMANBioGRID, MINT28298427 details
SMO_HUMANPLPP7_HUMANBioGRID, MINT28298427 details
SMO_HUMANCR032_HUMANBioGRID, MINT28298427 details
SMO_HUMANEMC10_HUMANBioGRID, MINT28298427 details
SMO_HUMANTIDC1_HUMANBioGRID, MINT28298427 details
SMO_HUMANS1PR5_HUMANBioGRID, MINT28298427 details
SMO_HUMANFKBP8_HUMANBioGRID, MINT28298427 details
SMO_HUMANWLS_HUMANBioGRID, MINT28298427 details
SMO_HUMANGBRL2_HUMANBioGRID, MINT28298427 details
SMO_HUMANGABR1_HUMANBioGRID, MINT28298427 details
SMO_HUMANCD003_HUMANBioGRID, MINT28298427 details
SMO_HUMANHMOX1_HUMANBioGRID, MINT28298427 details
SMO_HUMANHMOX2_HUMANBioGRID, MINT28298427 details
SMO_HUMANHMGN4_HUMANBioGRID, MINT28298427 details
SMO_HUMANITBP1_HUMANBioGRID, MINT28298427 details
SMO_HUMANNGEF_HUMANBioGRID, MINT28298427 details
SMO_HUMANTSN7_HUMANBioGRID, MINT28298427 details
SMO_HUMANTMCC2_HUMANBioGRID, MINT28298427 details
SMO_HUMANNEDD4_HUMANBioGRID23106887 details
SMO_HUMANPTC1_HUMANbhf-ucl, BioGRID, HPRD11278759 9811851 details
SMO_HUMANPTC2_HUMANBioGRID, HPRD9811851 details
SMO_HUMANGNAI1_HUMANBioGRID31168089 details
SMO_HUMANGBB1_HUMANBioGRID31168089 details
SMO_HUMANGBG1_HUMANBioGRID31168089 details
SMO_HUMANHERC4_HUMANBioGRID31010679 details
SMO_HUMANARBK1_HUMANBioGRID31253779 details