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RSPO1 Gene

protein-coding   GIFtS: 53
GCID: GC01M038076

R-Spondin 1

(Previous name: R-spondin homolog (Xenopus laevis))
  See RSPO1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
R-Spondin 11 2     RSPO2
Roof Plate-Specific Spondin-12 3     R-Spondin Homolog2
R-Spondin Homolog (Xenopus Laevis)1     hRspo13
CRISTIN32     FLJ409065
R-spondin-12     

External Ids:    HGNC: 216791   Entrez Gene: 2846542   Ensembl: ENSG000001692187   OMIM: 6095955   UniProtKB: Q2MKA73   

Export aliases for RSPO1 gene to outside databases

Previous GC identifers: GC01M037747 GC01M037849 GC01M036194


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RSPO1 Gene:
This gene is a member of the R-spondin family and encodes a secreted activator protein with two cystein-rich,
furin-like domains and one thrombospondin type 1 domain. 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. (provided by RefSeq, Jul 2008)

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 hyperkeratosis and true hermaphroditism. GO annotations related to this gene include heparin binding and receptor binding. An important paralog of this gene is RSPO3.

UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
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 Wiki entry for RSPO1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RSPO1 gene promoter:
         POU2F2 (Oct-2.1)   Bach1   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RSPO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RSPO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.2

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M038076:  view genomic region     (about GC identifiers)

Start:
38,076,951 bp from pter      End:
38,100,595 bp from pter
Size:
23,645 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7 (See protein sequence)
Recommended Name: R-spondin-1 precursor  
Size: 263 amino acids; 28959 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for RSPO1 (see all 10):
4BSO (3D)        4BSP (3D)        4BSR (3D)        4BSS (3D)        4BST (3D)        4BSU (3D)    
Secondary accessions: A2A420 Q0H8S6 Q14C72 Q5T0F2 Q8N7L5
Alternative splicing: 3 isoforms:  Q2MKA7-1   Q2MKA7-2   Q2MKA7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RSPO1: NX_Q2MKA7

Explore proteomics data for RSPO1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn137

  • See RSPO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001033722.1  NP_001229837.1  NP_001229838.1  NP_001229839.1  

    ENSEMBL proteins: 
     ENSP00000362150   ENSP00000383848   ENSP00000383847   ENSP00000383846   ENSP00000348944  
     ENSP00000383849  
    Reactome Protein details: Q2MKA7

    RSPO1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    3 InterPro protein domains:
     IPR000884 Thrombospondin_1_rpt
     IPR006212 Furin_repeat
     IPR009030 Growth_fac_rcpt_N_dom

    Graphical View of Domain Structure for InterPro Entry Q2MKA7

    ProtoNet protein and cluster: Q2MKA7

    1 Blocks protein domain: IPB006212 Furin-like repeat

    UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
    Domain: The FU repeats are required for activation and stabilization of beta-catenin (By similarity)
    Similarity: Belongs to the R-spondin family
    Similarity: Contains 2 FU (furin-like) repeats
    Similarity: Contains 1 TSP type-1 domain


    Find genes that share domains with RSPO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RSPO1_HUMAN, Q2MKA7
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI--
    GO:0005515protein binding IPI17804805
    GO:0008201heparin binding IEA--
         
    Find genes that share ontologies with RSPO1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RSPO1:
     Small cells 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rspo1):
     endocrine/exocrine gland  mortality/aging  reproductive system 

    Find genes that share phenotypes with RSPO1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rspo1tm1.1Ktom for RSPO1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RSPO1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RSPO1

    miRNA
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    hsa-mir-335-5p (MIRT017565)

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    Selected qRT-PCR Assays for microRNAs that regulate RSPO1 (see all 10):
    hsa-miR-203 hsa-miR-142-5p hsa-miR-4328 hsa-miR-122 hsa-miR-519e* hsa-miR-515-5p hsa-miR-370 hsa-miR-544
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RSPO1_HUMAN, Q2MKA7: Secreted (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    nucleus2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IEA--

    Find genes that share ontologies with RSPO1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RSPO1 About    
    See pathways by source

    SuperPathContained pathways About
    1Non-Canonical Wnt Pathway
    Non-Canonical Wnt Pathway0.53
    Canonical Wnt Pathway0.53
    2Wnt signaling pathway (KEGG)
    Wnt Signaling Pathways0.40
    3Wnt signaling network
    Wnt signaling network


    Find genes that share SuperPaths with RSPO1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RSPO1
        Wnt Signaling Pathways


    1 BioSystems Pathway for RSPO1
        Wnt signaling network

    2 Sino Biological Pathways for RSPO1
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway

    1 Reactome Pathway for RSPO1
        regulation of FZD by ubiquitination


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RSPO1
    Interactions:

        Search GeneGlobe Interaction Network for RSPO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for RSPO1 (ENSP000003489444) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DKK1ENSP000003630814STRING: ENSP00000363081
    LRP6ENSP000002613494STRING: ENSP00000261349
    ZNRF3ENSP000003286144STRING: ENSP00000328614
    DMXL1ENSP000003096904STRING: ENSP00000309690
    DMXL2ENSP000002510764STRING: ENSP00000251076
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002090regulation of receptor internalization IDA17804805
    GO:0007140male meiosis IEA--
    GO:0010468regulation of gene expression IEA--
    GO:0030177positive regulation of Wnt signaling pathway IDA--
    GO:0060070canonical Wnt signaling pathway IEA--

    Find genes that share ontologies with RSPO1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RSPO1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RSPO1 gene (5 alternative transcripts): 
    NM_001038633.3  NM_001242908.1  NM_001242909.1  NM_001242910.1  NM_173640.1  

    Unigene Cluster for RSPO1:

    R-spondin 1
    Hs.135015  [show with all ESTs]
    Unigene Representative Sequence: NM_001038633
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373059 ENST00000401070 ENST00000401069 ENST00000401068 ENST00000356545(uc001cbl.2 uc009vvf.2 uc001cbm.2 uc009vvg.2)
    ENST00000401071
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    hsa-miR-203 hsa-miR-142-5p hsa-miR-4328 hsa-miR-122 hsa-miR-519e* hsa-miR-515-5p hsa-miR-370 hsa-miR-544
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    Additional mRNA sequence: 

    AK098225.1 BC114966.1 DQ165084.1 DQ165085.1 DQ318235.1 

    2 DOTS entries:

    DT.70105148  DT.97802441 

    16 AceView cDNA sequences:

    BE645002 AW043873 AI872161 AK098225 NM_173640 AI391544 AI224952 BQ027971 
    CD676015 CA438631 AI095718 BX092298 AI217533 BM803497 BM693752 BM546020 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RSPO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGAGACAA
    RSPO1 Expression
    About this image


    RSPO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Somatic Cells Ovigerous Cord
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
    RSPO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RSPO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.135015

    UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RSPO1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rspo11 , 5 R-spondin homolog (Xenopus laevis)1, 5 87.15(n)1
    89.31(a)1
      4 (57.96 cM)5
    1921991  NM_138683.21  NP_619624.21 
     1249864305 
    chicken
    (Gallus gallus)
    Aves RSPO11 R-spondin 1 71.17(n)
    68.73(a)
      419613  XM_004947753.1  XP_004947810.1 
    lizard
    (Anolis carolinensis)
    Reptilia RSPO16
    R-spondin 1
    57(a)
    1 ↔ 1
    GL343426.1(521062-527408)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rspo11 R-spondin 1 63.57(n)
    59.92(a)
      100158609  NM_001128028.1  NP_001121500.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj81e052 wufj81e05 76.74(n)   337531  CF943707.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RSPO1 gene
    RSPO32  RSPO42  RSPO22  
    3 SIMAP similar genes for RSPO1 using alignment to 1 protein entry:     RSPO1_HUMAN:
    RSPO3    RSPO2    RSPO4

    Find genes that share paralogs with RSPO1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RSPO1 (see all 535)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs562948731,2
    C--38086332(+) TAATA-/ATA/  
      ATAATA
    TATGA
    8 -- cds11NA 2
    rs718637131,2
    C--38096696(+) GAGTCAGAG/-  
            
    AGTTC
    4 -- int11Minor allele frequency- -:0.50CSA 2
    rs57735961,2
    C--38096698(+) gTCAG-/AGAG  
            
    TTCAG
    4 -- int12Minor allele frequency- AGAG:0.25NA 4
    rs57735971,2
    C--38098178(+) ATACC-/AGGGGG 4 -- int11Minor allele frequency- A:0.00NA 2
    rs1115856321,2
    C--38098178(+) ATACCA/GGGGGG 4 -- int10--------
    rs1853306501,2
    --38157589(+) ACTCCC/TGGGCT 4 -- ds50010--------
    rs344739361,2
    C--38157662(+) TTTTTT/-TTTTT 4 -- ds50011Minor allele frequency- -:0.50NA 2
    rs109083631,2
    C,F,A,H--38157752(+) ctccaC/Tctccc 4 -- ds50017Minor allele frequency- T:0.44NA WA 16
    rs115859051,2
    C,H--38157848(+) tagtaA/Gagacg 4 -- ds50010--------
    rs1884734951,2
    --38157854(+) AGACGA/GGGTTT 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for RSPO1 (38076951 - 38100595 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RSPO1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv992523CNV Deletion20482838
    esv3503CNV Deletion18987735
    esv2747208CNV Deletion23290073
    esv2747219CNV Deletion23290073
    nsv160858CNV Loss16902084
    nsv834746CNV Loss17160897

    Human Gene Mutation Database (HGMD): RSPO1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RSPO1
    DNA2.0 Custom Variant and Variant Library Synthesis for RSPO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609595   
    OMIM disorders: 610644  
    UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
  • 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

  • 3 diseases for RSPO1:    
    About MalaCards
    palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal    palmoplantar hyperkeratosis and true hermaphroditism    hermaphroditism


    Find genes that share disorders with RSPO1           About GenesLikeMe

    2 Novoseek inferred disease relationships for RSPO1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucositis 45.9 1 16357527 (1)
    cancer 4.26 3 19385064 (1), 17426450 (1), 16357527 (1)


    Export disorders for RSPO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RSPO1 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with RSPO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitogenic influence of human R-spondin1 on the intestinal epithelium. (PubMed id 16109882)1, 2, 9 Kim K.-A.... Tomizuka K. (Science 2005)
    2. R-spondin1 is essential in sex determination, skin differentiation and malignancy. (PubMed id 17041600)1, 2, 9 Parma P.... Camerino G. (Nat. Genet. 2006)
    3. The structural basis of R-spondin recognition by LGR5 and RNF43. (PubMed id 23756651)1, 2 Chen P.H....He X. (amp 2013)
    4. R-Spondin potentiates Wnt/beta-catenin signaling through orphan receptors LGR4 and LGR5. (PubMed id 22815884)1, 2 Ruffner H....Cong F. (PLoS ONE 2012)
    5. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PubMed id 22575959)1, 2 Hao H.X....Cong F. (Nature 2012)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. (PubMed id 18085567)1, 9 Tomaselli S....Grammatico P. (Hum. Mutat. 2008)
    10. The human and mouse sex-determining SRY genes repress the Rspol/beta-catenin signaling. (PubMed id 19376480)1, 9 Lau Y.F. and Li Y. (J Genet Genomics 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 284654 HGNC: 21679 AceView: R-spondin Ensembl:ENSG00000169218 euGenes: HUgn284654
    ECgene: RSPO1 H-InvDB: RSPO1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RSPO1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RSPO1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RSPO1 gene:
    Search GeneIP for patents involving RSPO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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