Rspo1 R-spondin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rspo1provided by MGI
Official Full Name: R-spondin 1provided by MGI
Primary source: MGI:MGI:2183426
See related: Ensembl:ENSMUSG00000028871 AllianceGenome:MGI:2183426
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rspondin; R-spondin
Summary: Enables heparin binding activity and signaling receptor binding activity. Involved in positive regulation of canonical Wnt signaling pathway. Acts upstream of or within several processes, including male meiotic nuclear division; positive regulation of non-canonical Wnt signaling pathway; and regulation of male germ cell proliferation. Located in extracellular space and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and skeleton. Orthologous to human RSPO1 (R-spondin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in ovary adult (RPKM 13.8), CNS E11.5 (RPKM 10.5) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 57.96 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (124880197..124902895)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (124986401..125009102)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rspo1 and Rspo3 are required for sensory lineage neural crest formation in mouse embryos.
Title: Rspo1 and Rspo3 are required for sensory lineage neural crest formation in mouse embryos.
Silencing of RSPO1 mitigates obesity-related renal fibrosis in mice by deactivating Wnt/beta-catenin pathway.
Title: Silencing of RSPO1 mitigates obesity-related renal fibrosis in mice by deactivating Wnt/β-catenin pathway.
R-spondin substitutes for neuronal input for taste cell regeneration in adult mice.
Title: R-spondin substitutes for neuronal input for taste cell regeneration in adult mice.
Rspo1/Rspo3-LGR4 signaling inhibits hepatic cholesterol synthesis through the AMPKalpha-SREBP2 pathway.
Title: Rspo1/Rspo3-LGR4 signaling inhibits hepatic cholesterol synthesis through the AMPKα-SREBP2 pathway.
A novel function of R-spondin1 in regulating estrogen receptor expression independent of Wnt/beta-catenin signaling.
Title: A novel function of R-spondin1 in regulating estrogen receptor expression independent of Wnt/β-catenin signaling.
Amphiregulin mediates the hormonal regulation on Rspondin-1 expression in the mammary gland.
Title: Amphiregulin mediates the hormonal regulation on Rspondin-1 expression in the mammary gland.
the Rspo3-Lgr5 axis simultaneously regulates both antimicrobial defence and mucosal regeneration
Title: R-spondin-3 induces secretory, antimicrobial Lgr5(+) cells in the stomach.
blocking Rspo-Lgr4 signaling overcame Lewis lung carcinoma (LLC) resistance to anti-PD-1 therapy and improved the efficacy of PD-1 immunotherapy against B16F10 melanoma, indicating vital roles of Rspo-Lgr4 in host antitumor immunity and a potential therapeutic target in cancer immunotherapy.
Title: Inhibition of Rspo-Lgr4 Facilitates Checkpoint Blockade Therapy by Switching Macrophage Polarization.
reciprocal control of antagonistic Wnt signaling pathways by Rspo1 in muscle stem cell progeny is a key step ensuring normal tissue architecture restoration following acute damage.
Title: R-spondin1 Controls Muscle Cell Fusion through Dual Regulation of Antagonistic Wnt Signaling Pathways.
In Rspo1 knock-out mice during pregnancy, a stronger expression of mesenchymal markers was observed, without modifications to the structure of mammary epithelial tissue. Mammary epithelial cell immunohistochemical analysis revealed a persistence of virgin markers, which signify a delay in cell differentiation.
Title: Phenotypic and Molecular Alterations in the Mammary Tissue of R-Spondin1 Knock-Out Mice during Pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (6) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235023

Rspo1 (e-PCR), detects polymorphism
- UniSTS:527526

UniSTS:498602 (e-PCR)
- UniSTS:498602

Rspo1 (e-PCR), detects polymorphism
- UniSTS:498602

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	ISO Inferred from Sequence Orthology more info
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male meiotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of non-canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of male germ cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: R-spondin-1

Names: R-spondin homolog; cristin-3; cysteine-rich and single thrombospondin domain-containing protein 3; mCristin-3; roof plate-specific spondin-1; thrombospondin type 1 domain containing gene Rspondin

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_138683.2 → NP_619624.2 R-spondin-1 precursor

See identical proteins and their annotated locations for NP_619624.2

Status: VALIDATED

Source sequence(s)

AB016768, AK132277

Consensus CDS

CCDS18633.1

UniProtKB/Swiss-Prot

Q3V1S3, Q9Z132

UniProtKB/TrEMBL

B1ASC1

Related

ENSMUSP00000030687.8, ENSMUST00000030687.8

Conserved Domains (3) summary

cd00064
Location:100 → 142

FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.

pfam15913
Location:42 → 144

Furin-like_2; Furin-like repeat, cysteine-rich

cl15278
Location:151 → 208

TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

124880197..124902895

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006502862.4 → XP_006502925.1 R-spondin-1 isoform X1

Conserved Domains (2) summary

PTZ00441
Location:89 → 143

PTZ00441; sporozoite surface protein 2 (SSP2); Provisional

pfam15913
Location:19 → 78

Furin-like_2; Furin-like repeat, cysteine-rich