• Gene id: 9104

Gene Summary

• Gene Symbol: RGN   Gene   UCSC   Ensembl
• Aliases: GNL, HEL-S-41, RC, SMP30
• Gene name: regucalcin
• Alternate names: regucalcin, epididymis secretory protein Li 41, gluconolactonase, senescence marker protein 30,
• Gene location: Xp11.3 (47078354: 47093313)     Exons: 8     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role
• OMIM: 300212

Protein Summary

• Protein general information: Q15493  
  • Name: Regucalcin (RC) (Gluconolactonase) (GNL) (EC 3.1.1.17) (Senescence marker protein 30) (SMP 30)
  • Length: 299  
  • Mass: 33253
• Sequence:

  MSSIKIECVLPENCRCGESPVWEEVSNSLLFVDIPAKKVCRWDSFTKQVQRVTMDAPVSSVALRQSGGYVATIGT
  KFCALNWKEQSAVVLATVDNDKKNNRFNDGKVDPAGRYFAGTMAEETAPAVLERHQGALYSLFPDHHVKKYFDQV
  DISNGLDWSLDHKIFYYIDSLSYSVDAFDYDLQTGQISNRRSVYKLEKEEQIPDGMCIDAEGKLWVACYNGGRVI
  RLDPVTGKRLQTVKLPVDKTTSCCFGGKNYSEMYVTCARDGMDPEGLLRQPEAGGIFKITGLGVKGIAPYSYAG

• Structural information:
  • Interpro: IPR011042  IPR008367  IPR013658  IPR005511  IPR039096  
  • PDB: 3G4E 3G4H 4GNB 4GNC
  • PDBsum: 3G4E 3G4H 4GNB 4GNC
  • STRING: ENSP00000380365
• Other Databases: GeneCards:  RGN  Malacards:  RGN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019853	L-ascorbic acid biosynthetic process	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0004341	gluconolactonase activity	IBA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0004341	gluconolactonase activity	IDA	molecular function
GO:0004341	gluconolactonase activity	IDA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030234	enzyme regulator activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0004341	gluconolactonase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1903634	negative regulation of leucine-tRNA ligase activity	IEA	biological process
GO:1903052	positive regulation of proteolysis involved in cellular protein catabolic process	IEA	biological process
GO:1903011	negative regulation of bone development	IEA	biological process
GO:1901896	positive regulation of ATPase-coupled calcium transmembrane transporter activity	IEA	biological process
GO:1901671	positive regulation of superoxide dismutase activity	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0051344	negative regulation of cyclic-nucleotide phosphodiesterase activity	IEA	biological process
GO:0050848	regulation of calcium-mediated signaling	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0032781	positive regulation of ATPase activity	IEA	biological process
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0010867	positive regulation of triglyceride biosynthetic process	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001889	liver development	IEA	biological process
GO:0019853	L-ascorbic acid biosynthetic process	IEA	biological process
GO:0004341	gluconolactonase activity	IEA	molecular function
GO:2000279	negative regulation of DNA biosynthetic process	IEA	biological process
GO:1903629	positive regulation of dUTP diphosphatase activity	IEA	biological process
GO:1903625	negative regulation of DNA catabolic process	IEA	biological process
GO:1903611	negative regulation of calcium-dependent ATPase activity	IEA	biological process
GO:1902679	negative regulation of RNA biosynthetic process	IEA	biological process
GO:1901318	negative regulation of flagellated sperm motility	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0045723	positive regulation of fatty acid biosynthetic process	IEA	biological process
GO:0045019	negative regulation of nitric oxide biosynthetic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0010922	positive regulation of phosphatase activity	IEA	biological process
GO:0010907	positive regulation of glucose metabolic process	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004341	gluconolactonase activity	IEA	molecular function
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006874	cellular calcium ion homeostasis	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0050848	regulation of calcium-mediated signaling	ISS	biological process
GO:0032781	positive regulation of ATPase activity	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00030	Pentose phosphate pathway
hsa00053	Ascorbate and aldarate metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)