• Gene id: 1264

Gene Summary

• Gene Symbol: CNN1   Gene   UCSC   Ensembl
• Aliases: HEL-S-14, SMCC, Sm-Calp
• Gene name: calponin 1
• Alternate names: calponin-1, basic calponin, calponin 1, basic, smooth muscle, calponin H1, smooth muscle, calponins, basic, epididymis secretory protein Li 14,
• Gene location: 19p13.2 (11538774: 11550322)     Exons: 10     NC_000019.10
• OMIM: 600806

Protein Summary

• Protein general information: P51911  
  • Name: Calponin 1 (Basic calponin) (Calponin H1, smooth muscle)
  • Length: 297  
  • Mass: 33170
  • Tissue specificity: Smooth muscle, and tissues containing significant amounts of smooth muscle.
• Sequence:

  MSSAHFNRGPAYGLSAEVKNKLAQKYDHQREQELREWIEGVTGRRIGNNFMDGLKDGIILCEFINKLQPGSVKKI
  NESTQNWHQLENIGNFIKAITKYGVKPHDIFEANDLFENTNHTQVQSTLLALASMAKTKGNKVNVGVKYAEKQER
  KFEPGKLREGRNIIGLQMGTNKFASQQGMTAYGTRRHLYDPKLGTDQPLDQATISLQMGTNKGASQAGMTAPGTK
  RQIFEPGLGMEHCDTLNVSLQMGSNKGASQRGMTVYGLPRQVYDPKYCLTPEYPELGEPAHNHHAHNYYNSA

• Structural information:
  • Protein Domains: (28..13-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001997  IPR000557  IPR001715  IPR036872  IPR003096  
  • Prosite: PS01052 PS51122 PS50021
  • CDD: cd00014
  • PDB: 1WYP
  • PDBsum: 1WYP
  • STRING: ENSP00000252456
• Other Databases: GeneCards:  CNN1  Malacards:  CNN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0031032	actomyosin structure organization	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	IGI	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0006940	regulation of smooth muscle contraction	TAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray