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RGN regucalcin [ Homo sapiens (human) ]

Gene ID: 9104, updated on 5-Aug-2022

Summary

Official Symbol
RGNprovided by HGNC
Official Full Name
regucalcinprovided by HGNC
Primary source
HGNC:HGNC:9989
See related
Ensembl:ENSG00000130988 MIM:300212; AllianceGenome:HGNC:9989
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
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Genomic context

See RGN in Genome Data Viewer
Location:
Xp11.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47078443..47093313)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46485437..46503065)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46937842..46952712)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4088 Neighboring gene jade family PHD finger 3 Neighboring gene Sharpr-MPRA regulatory region 7060 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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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_001282848.2NP_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)
    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_001282849.2NP_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)
    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_004683.6NP_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)
    AK290136, HY260443
    Consensus CDS
    CCDS14272.1
    UniProtKB/Swiss-Prot
    Q15493, Q5JRR5
    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, Q5JRR5
    UniProtKB/TrEMBL
    V9HWF8
    Related
    ENSP00000380365.1, ENST00000397180.6
    Conserved Domains (1) summary
    pfam08450
    Location:16264
    SGL; SMP-30/Gluconolaconase/LRE-like region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    47078443..47093313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029954.3XP_016885443.1  regucalcin isoform X2

    Conserved Domains (1) summary
    COG3386
    Location:1181
    YvrE; Sugar lactone lactonase YvrE [Carbohydrate transport and metabolism]
  2. XM_006724567.3XP_006724630.1  regucalcin isoform X1

    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]
  3. XM_006724568.3XP_006724631.1  regucalcin isoform X2

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    46485437..46503065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)