1: SMO smoothened homolog (Drosophila) [ Homo sapiens ]

GeneID: 6608 updated 8-Nov-2009

[Top][Help]Summary

Official Symbol
SMOprovided by HGNC
Official Full Name
smoothened homolog (Drosophila)provided by HGNC
Primary Source
HGNC:11119
See related
Ensembl:ENSG00000128602; HPRD:03294; MIM:601500
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Gx; SMOH; SMO

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Studies suggest that Hh binding to Ptc leads to the de-repression of the GPCR-related protein Smo.
PubMed 2. the expression of Smoothened was very low or almost absent In the normal endometrium and significantly highly expressed in complex and atypical hyperplasia
PubMed 3. The interactions of small molecule agonists and antagonists with SMO were characterized.
PubMed 4. Observational study of gene-disease association. (HuGE Navigator)
PubMed 5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
PubMed 6. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
PubMed 7. Constitutive activation of the hedgehog signaling pathway in chondrosarcoma is rarely caused by SMO protein mutation.
PubMed 8. mutations are rare in SMO in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors
PubMed 9. Smo mutants augment p53 binding to the E3 ubiquitin-protein ligase Mdm2 and promote p53 ubiquitination.
PubMed 10. Significantly high levels of ultraviolet-specific mutations in the smoothened gene are found in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients.
PubMed 11. beta-Arrestin 2 and GRK2 are potential mediators of signaling by activated Smoothened
PubMed 12. the upstream part of the Hedgehog pathway involving Hedgehog interaction with Patched, regulation of Smoothened by Patched, and Smoothened enrichment at the plasma membrane is highly conserved between Drosophila and humans
PubMed 13. results suggest that the Ptc tumour suppressor functions normally as a transmembrane molecular transporter, which acts indirectly to inhibit Smo activity
PubMed 14. aberrant expressions of PTCH and Smo were common in pancreatic carcinoma tissues & were associated with low-level differentiation of tumor tissue & hyperglycemia; this indicated that these molecules played a fundamental role in pancreas tumorigenesis
PubMed 15. overexpression and/or tumorigenic activation of the Smo proto-oncogene mediates c-myc overexpression which plays a critical role in hepatocarcinogenesis; study suggests that Smo is a prognostic factor in HCC tumorigenesis
PubMed 16. smoothened expression in human astrocytic tumors inversely correlates with histological malignancy
PubMed 17. role of the human M2SMO mutant in BCC development in adult transgenic mice
PubMed 18. analysis of Hedgehog modulator properties after functional coupling of Smoothened to G15

[Top][Help]Interactions

Description ..........
  Product Interactant Other Gene Complex Source Pubs          
Beta-arr2 interacts with Smo. This interaction was modeled on a demonstrated interaction between Beta-arr2 and Smo both from an unspecified species.
  NP_005622.1      ARRB2      BIND    PubMed
 
  NP_005622.1   NP_000255.1   PTCH1      HPRD    PubMed
 
  NP_005622.1   Patched 2   PTCH2      HPRD    PubMed
Affinity Capture-Western
  BioGRID:112492   BioGRID:111699   PTCH1      BioGRID    PubMed
Affinity Capture-Western
  BioGRID:112492   BioGRID:114195   PTCH2      BioGRID    PubMed

[Top][Help]General gene information

Markers

MARC_16819-16820:1021560442:1(e-PCR)
Links: UniSTS:268130
RH121944(e-PCR)
Links: UniSTS:95082
RH12557(e-PCR)
Links: UniSTS:37016
RH16231(e-PCR)
Links: UniSTS:31427
SMO_853(e-PCR)
Links: UniSTS:277755
SMO_V157(e-PCR)
Links: UniSTS:277755

Phenotypes

Basal cell carcinoma, somatic
MIM: 601500

Homology

Homologs of the SMO gene The SMO gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and mosquito.


Map Viewer (Mouse, Rat)

Pathways

KEGG pathway: Basal cell carcinoma
05217
KEGG pathway: Hedgehog signaling pathway
04340
KEGG pathway: Pathways in cancer
05200

[Top][Help]General protein information

Preferred Names
smoothened
Names
smoothened
seven transmembrane helix receptor

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_005631.3NP_005622.1  smoothened precursor

    Source sequence(s)
    BC009989
    Consensus CDS
    CCDS5811.1
    UniProtKB/TrEMBL
    A4D1K5
    UniProtKB/Swiss-Prot
    Q99835
    Conserved Domains (3) summary
    pfam01534
    Location:220554
    Blast Score: 1152
    Frizzled; Frizzled/Smoothened family membrane region
    cl09373
    Location:272433
    Blast Score: 97
    7tm_2; 7 transmembrane receptor (Secretin family)
    cl02447
    Location:70181
    Blast Score: 322
    Fz; Fz domain

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000007.13

    Range
    128828712..128853385
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_007933.15 

    Range
    66861555..66886228
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000050.1

    Range
    123625431..123650108
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_923640.1 

    Range
    26384182..26408859
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000139.1

    Range
    123189938..123214626, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001839071.2 

    Range
    2439887..2464575, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (CRA_TCAGchr7v2)

Genomic

  1. AC_000068.1

    Range
    128212667..128237344
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_079596.2 

    Range
    28248235..28272912
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AB065574.1   BAC05807.1
  genomic   AC011005.7  (114386..139059)   None
  genomic   AF114821.1   AAD17202.1
  genomic   CH236950.1   EAL24102.1
  genomic   CH471070.1   EAW83715.1
  mRNA   AF071494.1   AAC24863.1
  mRNA   AF089720.1   None
  mRNA   AF120103.1   AAF31757.1
  mRNA   AF130867.1   AAD28625.1
  mRNA   BC004332.1   None
  mRNA   BC009989.2   AAH09989.1
  mRNA   U84401.1   AAB41788.1
  other-genetic   DQ896647.2   ABM87646.1
Protein Accession   Links
Q8NH34   GenPept   UniProtKB/TrEMBL:Q8NH34
Q99835.1   GenPept   UniProtKB/Swiss-Prot:Q99835
Q9Y2Y5   GenPept   UniProtKB/TrEMBL:Q9Y2Y5

[Top][Help]Additional Links

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