RSPO1 R-spondin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RSPO1provided by HGNC
Official Full Name: R-spondin 1provided by HGNC
Primary source: HGNC:HGNC:21679
See related: Ensembl:ENSG00000169218 MIM:609595; AllianceGenome:HGNC:21679
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: RSPO; CRISTIN3
Summary: This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Expression: Biased expression in endometrium (RPKM 16.2), skin (RPKM 2.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (37611350..37634892, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (37476097..37499638, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (38076951..38100564, complement)

Chromosome 1 - NC_000001.11 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: 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?

R-spondin-1 induces Axin degradation via the LRP6-CK1epsilon axis.
Title: R-spondin-1 induces Axin degradation via the LRP6-CK1ε axis.
Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.
Title: Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.
RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
Title: RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
Association of WNT7B and RSPO1 with Axial Length in School Children.
Title: Association of WNT7B and RSPO1 with Axial Length in School Children.
WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade Serous Ovarian Cancer.
Title: WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade Serous Ovarian Cancer.
This study demonstrated the association between serum levels of RSPO1 and a range of metabolic parameters in humans.
Title: Serum R-Spondin 1 Is a New Surrogate Marker for Obesity and Insulin Resistance.
R-spondin1/Wnt activated Ascl2 expression dose-dependently in the CD133(+)CD44(+) colorectal cancer population.
Title: R-spondin1/Wnt-enhanced Ascl2 autoregulation controls the self-renewal of colorectal cancer progenitor cells.
In this study, we aimed at the Wnt signaling characteristic of Cancer stem cells (CSC) and designed a liposomal drug delivery system to target CSCs. Liposomes decorated with RSPO1 on the surface were constructed for specific interactions with the Wnt pathway coreceptor LGR5.
Title: Selective Targeting and Eradication of LGR5(+) Cancer Stem Cells Using RSPO-Conjugated Doxorubicin Liposomes.
High RSPO1 expression is associated with Gastric Carcinogenesis.
Title: Divergent Routes toward Wnt and R-spondin Niche Independency during Human Gastric Carcinogenesis.
R-spondin 1 regulates ovarian cancer biological activities via activating Wnt/beta-catenin. This highlights the critical roles of R-spondin 1 in ovarian cancer progression and chemoresistance.
Title: The role of R-spondin 1 through activating Wnt/β-catenin in the growth, survival and migration of ovarian cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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

Associated conditions

Description	Tests
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MedGen: C3149931 OMIM: 610644 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Wnt signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: R-spondin-1

Names: R-spondin homolog; roof plate-specific spondin-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.

Genomic

NG_012239.2 RefSeqGene

Range

4928..28470

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001038633.4 → NP_001033722.1 R-spondin-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001033722.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AK098225, AL513220, DB273983, DQ318235

Consensus CDS

CCDS41304.1

UniProtKB/Swiss-Prot

A2A420, Q0H8S6, Q14C72, Q2MKA7, Q5T0F2, Q8N7L5

Related

ENSP00000383846.1, ENST00000401068.1

Conserved Domains (2) summary

pfam15913
Location:42 → 142

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

pfam19028
Location:148 → 203

TSP1_spondin; Spondin-like TSP1 domain
NM_001242908.2 → NP_001229837.1 R-spondin-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001229837.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AL513220, DB273983, DQ165084

Consensus CDS

CCDS41304.1

UniProtKB/Swiss-Prot

A2A420, Q0H8S6, Q14C72, Q2MKA7, Q5T0F2, Q8N7L5

Related

ENSP00000348944.2, ENST00000356545.7

Conserved Domains (2) summary

pfam15913
Location:42 → 142

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

pfam19028
Location:148 → 203

TSP1_spondin; Spondin-like TSP1 domain
NM_001242909.2 → NP_001229838.1 R-spondin-1 isoform 2

See identical proteins and their annotated locations for NP_001229838.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and uses an alternate splice site in the 5' region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK098225, AL513220, DB273983

Consensus CDS

CCDS55591.1

UniProtKB/Swiss-Prot

Q2MKA7

Related

ENSP00000481178.1, ENST00000615459.4

Conserved Domains (2) summary

cd00064
Location:73 → 115

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:15 → 117

Furin-like_2; Furin-like repeat, cysteine-rich
NM_001242910.2 → NP_001229839.1 R-spondin-1 isoform 3 precursor

See identical proteins and their annotated locations for NP_001229839.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the 5' UTR and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL513220, DB273983, DQ165085

Consensus CDS

CCDS55590.1

UniProtKB/Swiss-Prot

Q2MKA7

Related

ENSP00000479832.1, ENST00000612451.4

Conserved Domains (1) summary

pfam15913
Location:42 → 143

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

37611350..37634892 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006710583.5 → XP_006710646.1 R-spondin-1 isoform X1

See identical proteins and their annotated locations for XP_006710646.1

UniProtKB/Swiss-Prot

A2A420, Q0H8S6, Q14C72, Q2MKA7, Q5T0F2, Q8N7L5

Conserved Domains (2) summary

pfam15913
Location:42 → 142

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

pfam19028
Location:148 → 203

TSP1_spondin; Spondin-like TSP1 domain

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

37476097..37499638 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336134.1 → XP_054192109.1 R-spondin-1 isoform X1

UniProtKB/Swiss-Prot

A2A420, Q0H8S6, Q14C72, Q2MKA7, Q5T0F2, Q8N7L5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173640.1: Suppressed sequence

Description

NM_173640.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein.