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Aliases for RSPO1 Gene

Aliases for RSPO1 Gene

  • R-Spondin 1 2 3
  • Roof Plate-Specific Spondin-1 3 4
  • R-Spondin Homolog (Xenopus Laevis) 2
  • R-Spondin Homolog 3
  • R-Spondin-1 3
  • CRISTIN3 3
  • FLJ40906 6
  • HRspo1 4
  • RSPO 3

External Ids for RSPO1 Gene

Previous GeneCards Identifiers for RSPO1 Gene

  • GC01M037747
  • GC01M037849
  • GC01M038076
  • GC01M036194

Summaries for RSPO1 Gene

Entrez Gene Summary for RSPO1 Gene

  • 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]

GeneCards Summary for RSPO1 Gene

RSPO1 (R-Spondin 1) is a Protein Coding gene. Diseases associated with RSPO1 include palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal and palmoplantar keratoderma - xx sex reversal - predisposition to squamous cell carcinoma. Among its related pathways are Wnt signaling network and Wnt signaling pathway (KEGG). GO annotations related to this gene include receptor binding and heparin binding. An important paralog of this gene is RSPO3.

UniProtKB/Swiss-Prot for RSPO1 Gene

  • Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination.

Gene Wiki entry for RSPO1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPO1 Gene

Genomics for RSPO1 Gene

Regulatory Elements for RSPO1 Gene

Genomic Location for RSPO1 Gene

Start:
37,611,350 bp from pter
End:
37,634,923 bp from pter
Size:
23,574 bases
Orientation:
Minus strand

Genomic View for RSPO1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RSPO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPO1 Gene

Proteins for RSPO1 Gene

  • Protein details for RSPO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2MKA7-RSPO1_HUMAN
    Recommended name:
    R-spondin-1
    Protein Accession:
    Q2MKA7
    Secondary Accessions:
    • A2A420
    • Q0H8S6
    • Q14C72
    • Q5T0F2
    • Q8N7L5

    Protein attributes for RSPO1 Gene

    Size:
    263 amino acids
    Molecular mass:
    28959 Da
    Quaternary structure:
    • Interacts with the extracellular domain of FZD8 and LRP6. It however does not form a ternary complex with FZD8 and LRP6. Interacts with WNT1. Binds heparin (By similarity). Interacts with ZNRF3; promoting indirect interaction between ZNRF3 and LGR4 and membrane clearance of ZNRF3. Interacts with LGR4, LGR5 and LGR6. Identified in a complex composed of RNF43, LGR5 and RSPO1.
    Miscellaneous:
    • Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis suggesting possible therapeutic application in gastrointestinal diseases

    Three dimensional structures from OCA and Proteopedia for RSPO1 Gene

    Alternative splice isoforms for RSPO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPO1 Gene

Proteomics data for RSPO1 Gene at MOPED

Post-translational modifications for RSPO1 Gene

  • Glycosylation at Asn137
  • Modification sites at PhosphoSitePlus

Other Protein References for RSPO1 Gene

No data available for DME Specific Peptides for RSPO1 Gene

Domains for RSPO1 Gene

Gene Families for RSPO1 Gene

HGNC:

Protein Domains for RSPO1 Gene

Suggested Antigen Peptide Sequences for RSPO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2MKA7

UniProtKB/Swiss-Prot:

RSPO1_HUMAN :
  • Q2MKA7
Domain:
  • The FU repeats are required for activation and stabilization of beta-catenin.
  • Contains 1 TSP type-1 domain.
Family:
  • Belongs to the R-spondin family.
Similarity:
  • Contains 2 FU (furin-like) repeats.
genes like me logo Genes that share domains with RSPO1: view

Function for RSPO1 Gene

Molecular function for RSPO1 Gene

UniProtKB/Swiss-Prot Function: Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination.

Gene Ontology (GO) - Molecular Function for RSPO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IPI 21727895
GO:0005102 receptor binding IPI 22615920
GO:0005515 protein binding IPI 17804805
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with RSPO1: view

Phenotypes for RSPO1 Gene

genes like me logo Genes that share phenotypes with RSPO1: view

Animal Models for RSPO1 Gene

MGI Knock Outs for RSPO1:

miRNA for RSPO1 Gene

miRTarBase miRNAs that target RSPO1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RSPO1 Gene

Localization for RSPO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPO1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPO1 Gene COMPARTMENTS Subcellular localization image for RSPO1 gene
Compartment Confidence
extracellular 3
nucleus 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RSPO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RSPO1: view

Pathways for RSPO1 Gene

genes like me logo Genes that share pathways with RSPO1: view

Pathways by source for RSPO1 Gene

2 Sino Biological pathways for RSPO1 Gene
1 BioSystems pathway for RSPO1 Gene
1 R&D Systems pathway for RSPO1 Gene

Gene Ontology (GO) - Biological Process for RSPO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 22615920
GO:0002090 regulation of receptor internalization IDA 17804805
GO:0007140 male meiosis IEA --
GO:0010468 regulation of gene expression IEA --
GO:0030177 positive regulation of Wnt signaling pathway IDA 22575959
genes like me logo Genes that share ontologies with RSPO1: view

Transcripts for RSPO1 Gene

Unigene Clusters for RSPO1 Gene

R-spondin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RSPO1 Gene

No ASD Table

Relevant External Links for RSPO1 Gene

GeneLoc Exon Structure for
RSPO1
ECgene alternative splicing isoforms for
RSPO1

Expression for RSPO1 Gene

mRNA expression in normal human tissues for RSPO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RSPO1 Gene

This gene is overexpressed in Uterus (10.4), Cervix - Ectocervix (7.9), Vagina (5.6), Fallopian Tube (5.2), and Cervix - Endocervix (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RSPO1 Gene

SOURCE GeneReport for Unigene cluster for RSPO1 Gene Hs.135015

mRNA Expression by UniProt/SwissProt for RSPO1 Gene

Q2MKA7-RSPO1_HUMAN
Tissue specificity: Abundantly expressed in adrenal glands, ovary, testis, thyroid and trachea but not in bone marrow, spinal cord, stomach, leukocytes colon, small intestine, prostate, thymus and spleen.
genes like me logo Genes that share expressions with RSPO1: view

Orthologs for RSPO1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSPO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSPO1 35
  • 99.49 (n)
  • 98.86 (a)
RSPO1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RSPO1 35
  • 87.02 (n)
  • 88.93 (a)
RSPO1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPO1 35
  • 89.35 (n)
  • 90.49 (a)
RSPO1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rspo1 35
  • 87.15 (n)
  • 89.31 (a)
Rspo1 16
Rspo1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSPO1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPO1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rspo1 35
  • 86.64 (n)
  • 87.4 (a)
chicken
(Gallus gallus)
Aves RSPO1 35
  • 71.17 (n)
  • 68.73 (a)
RSPO1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPO1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rspo1 35
  • 63.57 (n)
  • 59.92 (a)
zebrafish
(Danio rerio)
Actinopterygii rspo1 35
  • 57.14 (n)
  • 56.33 (a)
rspo1 36
  • 50 (a)
OneToOne
wufj81e05 35
Species with no ortholog for RSPO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RSPO1 Gene

ENSEMBL:
Gene Tree for RSPO1 (if available)
TreeFam:
Gene Tree for RSPO1 (if available)

Paralogs for RSPO1 Gene

Paralogs for RSPO1 Gene

Selected SIMAP similar genes for RSPO1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RSPO1: view

Variants for RSPO1 Gene

Sequence variations from dbSNP and Humsavar for RSPO1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1134025 -- 37,611,466(-) GGAAT(C/T)GTACA utr-variant-3-prime
rs4073473 -- 37,626,403(+) TAGCT(A/G)CACCC intron-variant
rs4073941 -- 37,630,675(+) GAGCC(A/G)GTCCC intron-variant
rs4074961 -- 37,627,051(-) TCTGA(A/G)TGATG intron-variant
rs4233214 -- 37,632,118(+) AATGT(C/T)CCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RSPO1 Gene

Variant ID Type Subtype PubMed ID
nsv834746 CNV Loss 17160897
esv2747208 CNV Deletion 23290073
esv3503 CNV Deletion 18987735
esv992523 CNV Deletion 20482838
nsv160858 CNV Loss 16902084
esv2747219 CNV Deletion 23290073

Relevant External Links for RSPO1 Gene

HapMap Linkage Disequilibrium report
RSPO1
Human Gene Mutation Database (HGMD)
RSPO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPO1 Gene

Disorders for RSPO1 Gene

(1) OMIM Diseases for RSPO1 Gene (609595)

UniProtKB/Swiss-Prot

RSPO1_HUMAN
  • Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal (PKKSCC) [MIM:610644]: A recessive syndrome characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for RSPO1 Gene

Disease -log(P) Hits PubMed IDs
mucositis 45.9 1
cancer 4.26 3
genes like me logo Genes that share disorders with RSPO1: view

Publications for RSPO1 Gene

  1. Mitogenic influence of human R-spondin1 on the intestinal epithelium. (PMID: 16109882) Kim K.-A. … Tomizuka K. (Science 2005) 3 4 23
  2. R-spondin1 is essential in sex determination, skin differentiation and malignancy. (PMID: 17041600) Parma P. … Camerino G. (Nat. Genet. 2006) 3 4 23
  3. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. (PMID: 18085567) Tomaselli S. … Grammatico P. (Hum. Mutat. 2008) 3 23
  4. The human and mouse sex-determining SRY genes repress the Rspol/beta-catenin signaling. (PMID: 19376480) Lau Y.F. … Li Y. (J Genet Genomics 2009) 3 23
  5. R-spondin1 is a high affinity ligand for LRP6 and induces LRP6 phosphorylation and beta-catenin signaling. (PMID: 17400545) Wei Q. … He X. (J. Biol. Chem. 2007) 3 23

Products for RSPO1 Gene

Sources for RSPO1 Gene

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