• Gene id: 219537

Gene Summary

• Gene Symbol: SMTNL1   Gene   UCSC   Ensembl
• Aliases: CHASM
• Gene name: smoothelin like 1
• Alternate names: smoothelin-like protein 1, calponin homology-associated smooth muscle protein,
• Gene location: 11q12.1 (57536840: 57550273)     Exons: 8     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by
• OMIM: 601416

Protein Summary

• Protein general information: A8MU46  
  • Name: Smoothelin like protein 1
  • Length: 494  
  • Mass: 52987
  • Tissue specificity: Expressed in striated muscles, specifically in type 2a fibers (at protein level). {ECO
• Sequence:

  MEQKEGKLSEDGTTVSPAADNPEMSGGGAPAEETKGTAGKAINEGPPTESGKQEKAPAEDGMSAELQGEANGLDE
  VKVESQREAGGKEDAEAELKKEDGEKEETTVGSQEMTGRKEETKSEPKEAEEKESTLASEKQKAEEKEAKPESGQ
  KADANDRDKPEPKATVEEEDAKTASQEETGQRKECSTEPKEKATDEEAKAESQKAVVEDEAKAEPKEPDGKEEAK
  HGAKEEADAKEEAEDAEEAEPGSPSEEQEQDVEKEPEGGAGVIPSSPEEWPESPTGEGHNLSTDGLGPDCVASGQ
  TSPSASESSPSDVPQSPPESPSSGEKKEKAPERRVSAPARPRGPRAQNRKAIVDKFGGAASGPTALFRNTKAAGA
  AIGGVKNMLLEWCRAMTKKYEHVDIQNFSSSWSSGMAFCALIHKFFPDAFDYAELDPAKRRHNFTLAFSTAEKLA
  DCAQLLDVDDMVRLAVPDSKCVYTYIQELYRSLVQKGLVKTKKK

• Structural information:
  • Protein Domains: (378..48-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  
  • Prosite: PS50021
  • CDD: cd00014
  • STRING: ENSP00000432651
• Other Databases: GeneCards:  SMTNL1  Malacards:  SMTNL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031674	I band	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0008157	protein phosphatase 1 binding	IBA	molecular function
GO:0005523	tropomyosin binding	IBA	molecular function
GO:0045907	positive regulation of vasoconstriction	IBA	biological process
GO:0043292	contractile fiber	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0031430	M band	IBA	cellular component
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0097756	negative regulation of blood vessel diameter	ISS	biological process
GO:0045907	positive regulation of vasoconstriction	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005523	tropomyosin binding	IEA	molecular function
GO:0008157	protein phosphatase 1 binding	IEA	molecular function
GO:0014823	response to activity	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	IEA	biological process
GO:0031674	I band	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0048644	muscle organ morphogenesis	IEA	biological process
GO:0051401	CH domain binding	IEA	molecular function
GO:0097718	disordered domain specific binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0043292	contractile fiber	IEA	cellular component
GO:0043621	protein self-association	IEA	molecular function
GO:0045907	positive regulation of vasoconstriction	IEA	biological process
GO:0097756	negative regulation of blood vessel diameter	IEA	biological process
GO:0031674	I band	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0043292	contractile fiber	IDA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray