• Gene id: 6525

Gene Summary

• Gene Symbol: SMTN   Gene   UCSC   Ensembl
• Gene name: smoothelin
• Alternate names: smoothelin,
• Gene location: 22q12.2 (31081298: 31104623)     Exons: 26     NC_000022.11
• Gene summary(Entrez): This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and ou
• OMIM: 160000

Protein Summary

• Protein general information: P53814  
  • Name: Smoothelin
  • Length: 917  
  • Mass: 99059
  • Tissue specificity: Smooth muscle; contractile or vascular (for the long form).
• Sequence:

  MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQDNKENWLHSQQREAEQ
  RAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRAQEIEAATLAGRLYSGRPNSGSREDSKGLAA
  HRLEQCEVPEREEQEQQAEVSKPTPTPEGTSQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQC
  LTAEVPGSPEPPPSPPKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSL
  SVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLTPARLLGPSLTSTTPA
  SSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRGLAARPLENRAGGPVARSEEPGAPLPVAVGT
  AEPGGSMKTTFTIEIKDGRGQASTGRVLLPTGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVT
  HVTSFSHAPPSSRGGCSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQST
  DFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADGSAVSTVTKTERLVHS
  NDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGSIFDREDQASPRAGSLAALEKRQAEKKKELM
  KAQSLPKTSASQARKAMIEKLEKEGAAGSPGGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFS
  SSWSDGMAFCALVHNFFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQS
  LYNHLRRHELRLRGKNV

• Structural information:
  • Protein Domains: (799..90-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  IPR022189  
  • Prosite: PS50021
  • CDD: cd00014
  • PDB: 2D87
  • PDBsum: 2D87
  • STRING: ENSP00000484398
• Other Databases: GeneCards:  SMTN  Malacards:  SMTN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0031941	filamentous actin	IBA	cellular component
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0006939	smooth muscle contraction	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0031941	filamentous actin	IBA	cellular component
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0006939	smooth muscle contraction	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq