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RGN regucalcin [ Homo sapiens (human) ]

Gene ID: 9104, updated on 7-Dec-2018

Summary

Official Symbol
RGNprovided by HGNC
Official Full Name
regucalcinprovided by HGNC
Primary source
HGNC:HGNC:9989
See related
Ensembl:ENSG00000130988 MIM:300212
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RC; GNL; SMP30; HEL-S-41
Summary
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]
Expression
Biased expression in liver (RPKM 68.0), adrenal (RPKM 65.2) and 11 other tissues See more
Orthologs

Genomic context

See RGN in Genome Data Viewer
Location:
Xp11.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (47078355..47093314)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46937775..46952712)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1545 Neighboring gene jade family PHD finger 3 Neighboring gene RNA, U6 small nuclear 1189, pseudogene Neighboring gene uncharacterized LOC105373193 Neighboring gene uncharacterized LOC107985720 Neighboring gene RNA, U12 small nuclear 2, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enzyme regulator activity IEA
Inferred from Electronic Annotation
more info
 
gluconolactonase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconolactonase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-ascorbic acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
liver regeneration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of RNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of bone development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of calcium-dependent ATPase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cyclic-nucleotide phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
negative regulation of leucine-tRNA ligase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nitric oxide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium-transporting ATPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dUTP diphosphatase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of proteolysis involved in cellular protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of superoxide dismutase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of triglyceride biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of calcium-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
regucalcin
Names
epididymis secretory protein Li 41
gluconolactonase
senescence marker protein 30
NP_001269777.1
NP_001269778.1
NP_004674.1
NP_690608.1
XP_006724630.1
XP_006724631.1
XP_016885443.1
XP_024308245.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282848.1NP_001269777.1  regucalcin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region and initiates translation at a downstream start codon, compared to variant 2. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK223360, BC058880, HY260443
    UniProtKB/Swiss-Prot
    Q15493
    Conserved Domains (2) summary
    pfam08450
    Location:1211
    SGL; SMP-30/Gluconolaconase/LRE-like region
    sd00039
    Location:150186
    7WD40; WD40 repeat [structural motif]
  2. NM_001282849.1NP_001269778.1  regucalcin isoform 3

    See identical proteins and their annotated locations for NP_001269778.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 2. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AK223360, BC050371, HY260443
    Consensus CDS
    CCDS75968.1
    UniProtKB/Swiss-Prot
    Q15493
    Related
    ENSP00000406568.1, ENST00000457380.5
    Conserved Domains (2) summary
    pfam08450
    Location:16192
    SGL; SMP-30/Gluconolaconase/LRE-like region
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  3. NM_004683.5NP_004674.1  regucalcin isoform 1

    See identical proteins and their annotated locations for NP_004674.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK223360, AK290136, HY260443
    Consensus CDS
    CCDS14272.1
    UniProtKB/Swiss-Prot
    Q15493
    UniProtKB/TrEMBL
    V9HWF8
    Related
    ENSP00000253303.4, ENST00000352078.8
    Conserved Domains (1) summary
    pfam08450
    Location:16264
    SGL; SMP-30/Gluconolaconase/LRE-like region
  4. NM_152869.4NP_690608.1  regucalcin isoform 1

    See identical proteins and their annotated locations for NP_690608.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC050371, D31815, HY260443
    Consensus CDS
    CCDS14272.1
    UniProtKB/Swiss-Prot
    Q15493
    UniProtKB/TrEMBL
    V9HWF8
    Related
    ENSP00000380365.1, ENST00000397180.5
    Conserved Domains (1) summary
    pfam08450
    Location:16264
    SGL; SMP-30/Gluconolaconase/LRE-like region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    47078355..47093314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452477.1XP_024308245.1  regucalcin isoform X1

    Conserved Domains (1) summary
    pfam08450
    Location:16264
    SGL; SMP-30/Gluconolaconase/LRE-like region
  2. XM_017029954.2XP_016885443.1  regucalcin isoform X3

    Conserved Domains (1) summary
    COG3386
    Location:1181
    YvrE; Sugar lactone lactonase YvrE [Carbohydrate transport and metabolism]
  3. XM_006724567.2XP_006724630.1  regucalcin isoform X2

    See identical proteins and their annotated locations for XP_006724630.1

    UniProtKB/Swiss-Prot
    Q15493
    Conserved Domains (2) summary
    pfam08450
    Location:16192
    SGL; SMP-30/Gluconolaconase/LRE-like region
    sd00039
    Location:5895
    7WD40; WD40 repeat [structural motif]
  4. XM_006724568.2XP_006724631.1  regucalcin isoform X3

    Conserved Domains (1) summary
    COG3386
    Location:1181
    YvrE; Sugar lactone lactonase YvrE [Carbohydrate transport and metabolism]
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