Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RSPO1 Gene

Aliases for RSPO1 Gene

  • R-Spondin 1 2 3 5
  • Roof Plate-Specific Spondin-1 3 4
  • R-Spondin Homolog (Xenopus Laevis) 2
  • R-Spondin Homolog 3
  • R-Spondin-1 3
  • CRISTIN3 3
  • 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 Chemical Colitis. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and mTOR signaling pathway (KEGG). GO annotations related to this gene include receptor binding and G-protein coupled receptor binding. An important paralog of this gene is RSPO2.

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

Enhancers for RSPO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F037470 1.6 FANTOM5 ENCODE 10 +155.6 155560 18.3 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SSRP1 GNL2 ZC3H12A LINC01137 SNIP1 MTF1 SF3A3 FTH1P1 DNALI1 FHL3 RSPO1
GH01F038557 1.3 Ensembl ENCODE 10 -924.5 -924465 2.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SF3A3 GNL2 MYCBP INPP5B RSPO1 LOC105378658 GC01P038607
GH01F037988 1.2 ENCODE 10 -354.9 -354865 2.4 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SF3A3 SNIP1 GNL2 MYCBP FTH1P1 FHL3 INPP5B DNALI1 RSPO1 RRAGC
GH01F037513 1.1 ENCODE 10.1 +120.3 120292 2.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 SNIP1 GNL2 DNALI1 MEAF6 SF3A3 RPS27P9 FTH1P1 RSPO1 LINC01137 MIR5581
GH01F037890 0.7 ENCODE 10 -255.7 -255661 0.2 CTCF ZNF654 HLF TRIM22 REST RAD21 GATA3 THRAP3 SMC3 ZZZ3 SF3A3 GNL2 INPP5B RNU6-510P MYCBP SNIP1 FHL3 UTP11 RSPO1 RNU6-584P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RSPO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPO1 Gene

Chromosome:
1
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

Genes around RSPO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for RSPO1 Gene

  • Glycosylation at Asn 137
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for RSPO1
  • Cloud-Clone Corp. Antibodies for RSPO1

No data available for DME Specific Peptides for RSPO1 Gene

Domains & Families for RSPO1 Gene

Gene Families for RSPO1 Gene

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 :
  • The FU repeats are required for activation and stabilization of beta-catenin.
  • Belongs to the R-spondin family.
  • Contains 2 FU (furin-like) repeats.
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
genes like me logo Genes that share phenotypes with RSPO1: view

Human Phenotype Ontology for RSPO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RSPO1 Gene

MGI Knock Outs for RSPO1:

Animal Model Products

  • Taconic Biosciences Mouse Models for RSPO1

miRNA for RSPO1 Gene

miRTarBase miRNAs that target RSPO1

Flow Cytometry Products

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

Localization for RSPO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPO1 Gene

Secreted. Nucleus. Note=Seems to mainly localize to nucleoli. {ECO:0000250 UniProtKB:Q9Z132}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSPO1 gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RSPO1 Gene

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

Pathways & Interactions for RSPO1 Gene

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

SIGNOR curated interactions for RSPO1 Gene

Inactivates:

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:0016055 Wnt signaling pathway IEA --
GO:0030177 positive regulation of Wnt signaling pathway NAS 24431302
GO:0050896 response to stimulus IEA --
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x10.4), Cervix - Ectocervix (x7.9), Vagina (x5.6), Fallopian Tube (x5.2), and Cervix - Endocervix (x5.1).

Protein differential expression in normal tissues from HIPED for RSPO1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSPO1 Gene



Protein tissue co-expression partners for RSPO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSPO1 Gene:

RSPO1

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 expression patterns with RSPO1: view

Primer Products

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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia RSPO1 34 35
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Rspo1 34 16 35
  • 87.15 (n)
cow
(Bos Taurus)
Mammalia RSPO1 34 35
  • 87.02 (n)
rat
(Rattus norvegicus)
Mammalia Rspo1 34
  • 86.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RSPO1 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSPO1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPO1 34 35
  • 71.17 (n)
lizard
(Anolis carolinensis)
Reptilia RSPO1 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rspo1 34
  • 63.57 (n)
zebrafish
(Danio rerio)
Actinopterygii rspo1 34 35
  • 57.14 (n)
wufj81e05 34
Species where no ortholog for RSPO1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs10437320 -- 37,612,522(+) TGTGT(A/G)TGTGT utr-variant-3-prime
rs10437321 -- 37,612,524(+) tgtat(A/G)tgtgt utr-variant-3-prime
rs10796911 -- 37,622,895(+) GGTGA(C/G)AGAGA intron-variant
rs10796912 -- 37,625,925(+) CGCCC(A/G)CCTCA intron-variant
rs10908363 -- 37,611,020(+) ctcca(C/T)ctccc downstream-variant-500B

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

Variation tolerance for RSPO1 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPO1 Gene

Human Gene Mutation Database (HGMD)
RSPO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSPO1

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

Disorders for RSPO1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RSPO1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
  • palmoplantar hyperkeratosis and true hermaphroditism
chemical colitis
hermaphroditism
- elite association - COSMIC cancer census association via MalaCards
Search RSPO1 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:17041600}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPO1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPO1
genes like me logo Genes that share disorders with RSPO1: view

No data available for Genatlas for RSPO1 Gene

Publications for RSPO1 Gene

  1. R-spondin1 is essential in sex determination, skin differentiation and malignancy. (PMID: 17041600) Parma P. … Camerino G. (Nat. Genet. 2006) 3 4 22 64
  2. Mitogenic influence of human R-spondin1 on the intestinal epithelium. (PMID: 16109882) Kim K.-A. … Tomizuka K. (Science 2005) 3 4 22 64
  3. The structural basis of R-spondin recognition by LGR5 and RNF43. (PMID: 23756651) Chen P.H. … He X. (Genes Dev. 2013) 3 4 64
  4. Structural basis for R-spondin recognition by LGR4/5/6 receptors. (PMID: 23756652) Wang D. … Wang X. (Genes Dev. 2013) 3 4 64
  5. Structure of stem cell growth factor R-spondin 1 in complex with the ectodomain of its receptor LGR5. (PMID: 23809763) Peng W.C. … Gros P. (Cell Rep. 2013) 3 4 64

Products for RSPO1 Gene

Sources for RSPO1 Gene

Content
Loading form....