Human Gene RGN (uc004dha.1)
  Description: Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 1, mRNA.
RefSeq Summary (NM_004683): 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 in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
Transcript (Including UTRs)
   Position: hg19 chrX:46,937,775-46,952,712 Size: 14,938 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chrX:46,940,544-46,952,346 Size: 11,803 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:46,937,775-46,952,712)mRNA (may differ from genome)Protein (299 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RGN_HUMAN
DESCRIPTION: RecName: Full=Regucalcin; Short=RC; AltName: Full=Gluconolactonase; Short=GNL; EC=3.1.1.17; AltName: Full=Senescence marker protein 30; Short=SMP-30;
FUNCTION: Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)-dependent cellular processes and enzyme activities (By similarity).
CATALYTIC ACTIVITY: D-glucono-1,5-lactone + H(2)O = D-gluconate.
COFACTOR: Binds 1 divalent metal cation per subunit. Most active with zinc and manganese ions. The physiological cofactor is most likely calcium or magnesium.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=2.7 mM for gluconolactone (with Zn(2+) as cofactor); KM=0.6 mM for gluconolactone (with Mn(2+) as cofactor); KM=1.3 mM for gluconolactone (with Mg(2+) as cofactor); KM=3.7 mM for gluconolactone (with Ca(2+) as cofactor);
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
SIMILARITY: Belongs to the SMP-30/CGR1 family.
CAUTION: Gluconolactonase catalyzes a key step in ascorbic acid (vitamin C) biosynthesis, but primates lack the last enzyme in the pathway and are unable to synthesize vitamin C.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 84.94 RPKM in Adrenal Gland
Total median expression: 392.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -148.12349-0.424 Picture PostScript Text
3' UTR -86.20366-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR008367 - Regucalcin
IPR013658 - SGL
IPR005511 - SMP-30

Pfam Domains:
PF08450 - SMP-30/Gluconolaconase/LRE-like region

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3G4E - X-ray MuPIT 3G4H - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15493
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004341 gluconolactonase activity
GO:0005509 calcium ion binding
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0030234 enzyme regulator activity
GO:0046872 metal ion binding

Biological Process:
GO:0001822 kidney development
GO:0001889 liver development
GO:0001933 negative regulation of protein phosphorylation
GO:0006469 negative regulation of protein kinase activity
GO:0006874 cellular calcium ion homeostasis
GO:0007283 spermatogenesis
GO:0007568 aging
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0010907 positive regulation of glucose metabolic process
GO:0010922 positive regulation of phosphatase activity
GO:0019853 L-ascorbic acid biosynthetic process
GO:0032515 negative regulation of phosphoprotein phosphatase activity
GO:0032781 positive regulation of ATPase activity
GO:0034260 negative regulation of GTPase activity
GO:0043066 negative regulation of apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050848 regulation of calcium-mediated signaling
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0097421 liver regeneration
GO:1901318 negative regulation of flagellated sperm motility
GO:1901671 positive regulation of superoxide dismutase activity
GO:1901896 positive regulation of calcium-transporting ATPase activity
GO:1902679 negative regulation of RNA biosynthetic process
GO:1903011 negative regulation of bone development
GO:1903052 positive regulation of proteolysis involved in cellular protein catabolic process
GO:1903611 negative regulation of calcium-dependent ATPase activity
GO:1903625 negative regulation of DNA catabolic process
GO:1903629 positive regulation of dUTP diphosphatase activity
GO:1903634 negative regulation of leucine-tRNA ligase activity
GO:2000279 negative regulation of DNA biosynthetic process

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK223360 - Homo sapiens mRNA for regucalcin variant, clone: FCC101A02.
BC050371 - Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:51842 IMAGE:5760604), complete cds.
BC058880 - Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone IMAGE:5731957), partial cds.
AK290136 - Homo sapiens cDNA FLJ75608 complete cds, highly similar to Homo sapiens regucalcin (senescence marker protein-30) (RGN),transcript variant 1, mRNA.
BC073173 - Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:87766 IMAGE:6186669), complete cds.
AB032064 - Homo sapiens mRNA for regucalcin, complete cds.
EU794655 - Homo sapiens epididymis secretory protein Li 41 (HEL-S-41) mRNA, complete cds.
JD461393 - Sequence 442417 from Patent EP1572962.
JD475113 - Sequence 456137 from Patent EP1572962.
JD252561 - Sequence 233585 from Patent EP1572962.
AB028125 - Homo sapiens mRNA for regucalcin, complete cds.
D31815 - Homo sapiens mRNA for SMP-30 (senescence marker protein-30), complete cds.
E09013 - cDNA encoding human-SMP30 protein.
KJ892688 - Synthetic construct Homo sapiens clone ccsbBroadEn_02082 RGN gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY3DJ-35471 - L-ascorbate biosynthesis VI

-  Other Names for This Gene
  Alternate Gene Symbols: A4FTW1, A8K271, NM_004683, NP_690608, Q15493, Q53FC9, Q5JRR5, RGN_HUMAN, SMP30
UCSC ID: uc004dha.1
RefSeq Accession: NM_004683
Protein: Q15493 (aka RGN_HUMAN)
CCDS: CCDS14272.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004683.4
exon count: 7CDS single in 3' UTR: no RNA size: 1635
ORF size: 900CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2000.00frame shift in genome: no % Coverage: 98.78
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.