SMO
Protein smoothened
Also known as: FZD11, SMO_HUMAN, SMOH
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99835
- Gene
- SMO
- Ensembl
- ENSG00000128602
- Chromosome
- 7
- Canonical length
- 787 aa
- Protein class
- Cancer-related genes, Disease related genes, FDA approved drug targets, G-protein coupled receptors, Human disease related genes, Plasma proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
787 residues, UniProt reviewed canonical sequence.
>Q99835|SMO
1 MAAARPARGP ELPLLGLLLL LLLGDPGRGA ASSGNATGPG PRSAGGSARR SAAVTGPPPP
61 LSHCGRAAPC EPLRYNVCLG SVLPYGATST LLAGDSDSQE EAHGKLVLWS GLRNAPRCWA
121 VIQPLLCAVY MPKCENDRVE LPSRTLCQAT RGPCAIVERE RGWPDFLRCT PDRFPEGCTN
181 EVQNIKFNSS GQCEVPLVRT DNPKSWYEDV EGCGIQCQNP LFTEAEHQDM HSYIAAFGAV
241 TGLCTLFTLA TFVADWRNSN RYPAVILFYV NACFFVGSIG WLAQFMDGAR REIVCRADGT
301 MRLGEPTSNE TLSCVIIFVI VYYALMAGVV WFVVLTYAWH TSFKALGTTY QPLSGKTSYF
361 HLLTWSLPFV LTVAILAVAQ VDGDSVSGIC FVGYKNYRYR AGFVLAPIGL VLIVGGYFLI
421 RGVMTLFSIK SNHPGLLSEK AASKINETML RLGIFGFLAF GFVLITFSCH FYDFFNQAEW
481 ERSFRDYVLC QANVTIGLPT KQPIPDCEIK NRPSLLVEKI NLFAMFGTGI AMSTWVWTKA
541 TLLIWRRTWC RLTGQSDDEP KRIKKSKMIA KAFSKRHELL QNPGQELSFS MHTVSHDGPV
601 AGLAFDLNEP SADVSSAWAQ HVTKMVARRG AILPQDISVT PVATPVPPEE QANLWLVEAE
661 ISPELQKRLG RKKKRRKRKK EVCPLAPPPE LHPPAPAPST IPRLPQLPRQ KCLVAAGAWG
721 AGDSCRQGAW TLVSNPFCPE PSPPQDPFLP SAPAPVAWAH GRRQGLGPIH SRTNLMDTEL
781 MDADSDFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMO can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 30 nTPM
Expression across tissuesHPA
Tissue
- cervix: 30 nTPM
- ovary: 26 nTPM
- liver: 22 nTPM
- prostate: 18 nTPM
- kidney: 18 nTPM
- endometrium: 18 nTPM
Single-cell type
- pituitary stem cells: 49 nCPM
- peritubular myoid cells: 44 nCPM
- bergmann glia: 42 nCPM
- astrocytes: 42 nCPM
- thyrotrophs: 42 nCPM
- leydig cells: 40 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 29 nTPM
- midbrain: 14 nTPM
- medulla oblongata: 13 nTPM
- spinal cord: 12 nTPM
- thalamus: 11 nTPM
- basal ganglia: 9.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMO.
Disease | AllUniProt
Conditions SMO is implicated in, by any mechanism.
- Curry-Jones syndrome (CRJS) MIM:601707
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 233 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital hypothalamic hamartoma syndrome
- Basal cell carcinoma, somatic
- Curry-Jones syndrome
- Meningioma
- Medulloblastoma WNT activated
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.68
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.9
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- apoptotic process
- astrocyte activation
- atrial septum morphogenesis
- cell fate specification
- cellular response to cholesterol
- central nervous system development
- central nervous system neuron differentiation
- cerebellar cortex morphogenesis
- cerebral cortex development
- commissural neuron axon guidance
- contact inhibition
- dentate gyrus development
- determination of left/right asymmetry in lateral mesoderm
- dopaminergic neuron differentiation
- dorsal/ventral neural tube patterning
- epithelial cell proliferation
- epithelial-mesenchymal cell signaling
- forebrain morphogenesis
- gene expression
- hair follicle morphogenesis
- heart looping
- homeostasis of number of cells within a tissue
- in utero embryonic development
- left/right axis specification
- mammary gland epithelial cell differentiation
- midgut development
- multicellular organism growth
- myoblast migration
- negative regulation of apoptotic process
- negative regulation of DNA binding
- negative regulation of epithelial cell differentiation
- negative regulation of gene expression
- negative regulation of hair follicle development
- negative regulation of protein phosphorylation
- negative regulation of transcription by RNA polymerase II
- neural crest cell migration
- neuroblast proliferation
- odontogenesis of dentin-containing tooth
- osteoblast differentiation
- pancreas morphogenesis
- pattern specification process
- positive regulation of branching involved in ureteric bud morphogenesis
- positive regulation of cell migration
- positive regulation of epithelial cell proliferation
- positive regulation of gene expression
- positive regulation of mesenchymal cell proliferation
- positive regulation of multicellular organism growth
- positive regulation of neuroblast proliferation
- positive regulation of organ growth
- positive regulation of protein import into nucleus
- positive regulation of smoothened signaling pathway
- positive regulation of transcription by RNA polymerase II
- protein import into nucleus
- protein stabilization
- regulation of cerebellar granule cell precursor proliferation
- regulation of somatic stem cell population maintenance
- response to inositol
- skeletal muscle fiber development
- smooth muscle tissue development
- smoothened signaling pathway
- somite development
- spinal cord dorsal/ventral patterning
- thalamus development
- type B pancreatic cell development
- vasculogenesis
- mesenchymal to epithelial transition involved in metanephric renal vesicle formation
- regulation of heart morphogenesis
- ventral midline determination
Molecular functions
- cAMP-dependent protein kinase inhibitor activity
- G protein-coupled receptor activity
- oxysterol binding
- patched binding
- protein kinase A catalytic subunit binding
- protein sequestering activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SMO in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SMO as an antibody target. Whether an autoantibody or antibody against SMO could matter depends on whether native SMO is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMO is annotated at the cell surface, where native SMO is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SMO as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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