RGN regucalcin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: Xp11.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (47078443..47093313)
RS_2023_10	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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regucalcin downregulation in human cancer.
Title: Regucalcin downregulation in human cancer.
Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1.
Title: Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1.
The inflammatory macrophages repress the growth of bone metastatic human prostate cancer cells via TNF-alpha and IL-6 signaling: Involvement of cell signaling regulator regucalcin.
Title: The inflammatory macrophages repress the growth of bone metastatic human prostate cancer cells via TNF-α and IL-6 signaling: Involvement of cell signaling regulator regucalcin.
Senescence in oral lichen planus as assessed by the immunohistochemical evaluation of senescence marker protein-30 (Regucalcin).
Title: Senescence in oral lichen planus as assessed by the immunohistochemical evaluation of senescence marker protein-30 (Regucalcin).
Functional pleiotropy of calcium binding protein Regucalcin in signaling and diseases.
Title: Functional pleiotropy of calcium binding protein Regucalcin in signaling and diseases.
Senescence marker protein30 protects lens epithelial cells against oxidative damage by restoring mitochondrial function.
Title: Senescence marker protein30 protects lens epithelial cells against oxidative damage by restoring mitochondrial function.
Overexpression of regucalcin blocks the migration, invasion, and bone metastatic activity of human prostate cancer cells: Crosstalk between cancer cells and bone cells.
Title: Overexpression of regucalcin blocks the migration, invasion, and bone metastatic activity of human prostate cancer cells: Crosstalk between cancer cells and bone cells.
Senescence Marker Protein 30 (SMP30): A Novel Pan-Species Diagnostic Marker for the Histopathological Diagnosis of Breast Cancer in Humans and Animals.
Title: Senescence Marker Protein 30 (SMP30): A Novel Pan-Species Diagnostic Marker for the Histopathological Diagnosis of Breast Cancer in Humans and Animals.
Results demonstrate that RGN is epigenetically modified in non-small cell lung cancer (NSCLC) tissues. A high expression of RGN on the RNA level was positively correlated with patients' survival in adenocarcinomas. Also, high expression of Regucalcin seems to be protective in never smokers.
Title: Live and let die: epigenetic modifications of Survivin and Regucalcin in non-small cell lung cancer tissues contribute to malignancy.
In vitro experiments on colonic epithelial cells showed that stable SMP30 expression inhibited but that SMP30 siRNA expression increased TNF-alpha-induced apoptosis. SMP30 inhibition decreased Nrf2 mRNA expression levels (p<0.0001), but SMP30 overexpression increased Nrf2 mRNA expression levels (p=0.0495).
Title: Senescence marker protein 30 protects intestinal epithelial cells against inflammation-induced cell death by enhancing Nrf2 activity.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
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
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
involved_in intracellular 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 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 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 nitric oxide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein phosphorylation	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 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 proteolysis involved in protein catabolic process	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 nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: regucalcin

Names: epididymis secretory protein Li 41; gluconolactonase; senescence marker protein 30

NP_001269777.1

EC 3.1.1.17

NP_001269778.1

EC 3.1.1.17

NP_004674.1

EC 3.1.1.17

NP_690608.1

EC 3.1.1.17

XP_006724630.1

EC 3.1.1.17

XP_006724631.1

EC 3.1.1.17

XP_016885443.1

EC 3.1.1.17

XP_054184061.1

EC 3.1.1.17

XP_054184062.1

EC 3.1.1.17

XP_054184063.1

EC 3.1.1.17

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)

NM_001282848.2 → NP_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:1 → 211

SGL; SMP-30/Gluconolaconase/LRE-like region

sd00039
Location:150 → 186

7WD40; WD40 repeat [structural motif]
NM_001282849.2 → NP_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:16 → 192

SGL; SMP-30/Gluconolaconase/LRE-like region

sd00039
Location:58 → 95

7WD40; WD40 repeat [structural motif]
NM_004683.6 → NP_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

A4FTW1, A8K271, Q15493, Q53FC9, Q5JRR5

UniProtKB/TrEMBL

V9HWF8

Related

ENSP00000253303.4, ENST00000352078.8

Conserved Domains (1) summary

pfam08450
Location:16 → 264

SGL; SMP-30/Gluconolaconase/LRE-like region
NM_152869.4 → NP_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

A4FTW1, A8K271, Q15493, Q53FC9, Q5JRR5

UniProtKB/TrEMBL

V9HWF8

Related

ENSP00000380365.1, ENST00000397180.6

Conserved Domains (1) summary

pfam08450
Location:16 → 264

SGL; SMP-30/Gluconolaconase/LRE-like region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

47078443..47093313

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029954.3 → XP_016885443.1 regucalcin isoform X2

Conserved Domains (1) summary

COG3386
Location:1 → 181

YvrE; Sugar lactone lactonase YvrE [Carbohydrate transport and metabolism]
XM_006724567.3 → XP_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:16 → 192

SGL; SMP-30/Gluconolaconase/LRE-like region

sd00039
Location:58 → 95

7WD40; WD40 repeat [structural motif]
XM_006724568.3 → XP_006724631.1 regucalcin isoform X2

Conserved Domains (1) summary

COG3386
Location:1 → 181

YvrE; Sugar lactone lactonase YvrE [Carbohydrate transport and metabolism]