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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RSPO1 Gene

protein-coding   GIFtS: 53
GCID: GC01M038076

R-spondin 1

(Previous name: R-spondin homolog (Xenopus laevis) )
 Explore 13 diseases affiliated with
RSPO1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RSPO1    

Aliases
for RSPO1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
R-Spondin 11 2     CRISTIN32
Roof Plate-Specific Spondin-12 3     R-Spondin-11
FLJ409061 5     RSPO2
RSPONDIN1     R-Spondin Homolog2
R-Spondin Homolog (Xenopus Laevis)1     HRspo11

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


Summaries
for RSPO1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RSPO1:
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)

UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
Function: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the
canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably 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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RSPO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for RSPO1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Secreted (By similarity)
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q2MKA7

    • RSPO1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: RSPO1
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    Novus Biologicals RSPO1 Protein
    Novus Biologicals RSPO1 Lysate
    Sino Biological Recombinant Protein for RSPO1
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RSPO1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    RSPO1 for ontologies           About GeneDecksing



    RSPO1 Antibody Products: 
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    Uscn Antibodies for RSPO1
    ThermoFisher Antibodies for RSPO1

    Assay Products for RSPO1: 
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    Uscn ELISAs and CLIAs for RSPO1

    Protein Domains /
    Families
    for RSPO1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RSPO1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000884 Thrombospondin_1_rpt
     IPR006212 Furin_repeat
     IPR009030 Growth_fac_rcpt

    Graphical View of Domain Structure for InterPro Entry Q2MKA7

    ProtoNet protein and cluster: Q2MKA7

    1 Blocks protein family: 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


    Function
    for RSPO1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
    Function: Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the
    canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RSPO1
    8/10 QIAGEN miScript miRNA 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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RSPO1 (see all 7)
    OriGene shRNA RFP: RSPO1
    OriGene siRNA: RSPO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RSPO1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RSPO1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RSPO1 (see all 3)
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    Cell Line
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    Search LifeMap BioReagents cell lines for RSPO1

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IEA--
    GO:0005515protein binding IPI17804805
    GO:0008201heparin binding IEA--


    RSPO1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RSPO1:
     Small cells 

    Animal Models:
         Mouse knock-out Rspo1tm1.1Ktom for RSPO1
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rspo1):
     endocrine/exocrine gland  mortality/aging  reproductive system 

    RSPO1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RSPO1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt signaling network
    		Wnt signaling network1.00
    2Wnt Signaling Pathway
    		Wnt Signaling Pathway0.33

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for RSPO1
        Wnt Signaling Pathway


    1 BioSystems Pathway for RSPO1 
        Wnt signaling network


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RSPO1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for RSPO1 (ENSP000003489444) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DKK1ENSP000003630814STRING: ENSP00000363081
    LRP6ENSP000002613494STRING: ENSP00000261349
    ZNRF3ENSP000003286144STRING: ENSP00000328614
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002090regulation of receptor internalization IDA17804805
    GO:0030177positive regulation of Wnt receptor signaling pathway IDA--
    GO:0060070canonical Wnt receptor signaling pathway IEA--
    GO:0090263positive regulation of canonical Wnt receptor signaling pathway IDA17804805


    RSPO1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RSPO1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RSPO1
    Search CenterWatch for drugs/clinical trials and news about RSPO1 

    Transcripts
    for RSPO1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    8/10 QIAGEN miScript miRNA 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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RSPO1 (see all 7)
    OriGene shRNA RFP: RSPO1
    OriGene siRNA: RSPO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RSPO1
    Clone
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    GenScript: all cDNA clones in your preferred vector: RSPO1 (NM_001038633)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RSPO1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPO1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RSPO1

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.70105148  DT.97802441 

    16 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for RSPO1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RSPO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGAGACAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RSPO1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryOvigerous CordOvarian Somatic CellsOvary
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    OvaryPrimary FollicleGranulosa CellsOvary
    Reproductive SystemMesonephrosMesonephric cellsReproductive System
    KidneyMetanephrosKidney
    KidneyRenal VesicleKidney
    Neural TubeTelencephalonNeural Tube
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RSPO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSPO1

    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
    Assay Products:     
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    Orthologs
    for RSPO1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for RSPO1 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RSPO11 R-spondin 1 71.17(n)
    68.73(a)    		   419613  XM_417760.3  XP_417760.3 
    lizard
    (Anolis carolinensis)    		 Reptilia RSPO16
    		 --
    		 65(a)
    		 1 ↔ 1
    		 GL343426.1(521545-527117)
    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
    for RSPO1 gene

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

    RSPO1 for paralogs           About GeneDecksing



    Genomic Variants
    for RSPO1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/436 NCBI SNPs in RSPO1 are shown (see all 436)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs344739361,2
    		C--36193827(+) TTTTTT/-TTTTT 4 -- ds50011Minor allele frequency- -:0.50NA 2
    rs115859051,2
    		C,H--36194013(+) tagtaA/Gagacg 4 -- ds50010--------
    rs1166009301,2
    		C,F,--36194535(+) ATTGTC/TCCCAA 4 -- ut311Minor allele frequency- T:0.04WA 118
    rs800948931,2
    		--36194809(+) TGCCAA/GTCATC 4 -- ut311Minor allele frequency- G:0.01WA 118
    rs797600131,2
    		C,--36194855(+) CTGGAA/GTGAGA 4 -- ut312Minor allele frequency- G:0.21CSA WA 120
    rs756757741,2
    		C,--36195089(+) AAGGAA/GTGTGG 4 -- ut312Minor allele frequency- G:0.08CSA WA 120
    rs1113325101,2
    		--36195220(+) ATAAAG/TTCACA 4 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1134565051,2
    		C,F,--36196273(+) TCTGGG/AGCCAG 4 -- int11Minor allele frequency- A:0.08NA 120
    rs746631541,2
    		--36197096(+) TTACCC/TGGCCC 4 -- int11Minor allele frequency- T:0.01WA 118
    rs115885711,2
    		C,F,A,H,--36197361(+) CTCATC/ACCCAG 4 -- int11Minor allele frequency- A:0.04NA 120

    HapMap Linkage Disequilibrium report for RSPO1 (38076951 - 38100595 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RSPO1
         1 Indel: 41300
    Human Gene Mutation Database (HGMD): RSPO1

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    Disorders / Diseases
    for RSPO1 gene

    (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.)
    About This Section
    RSPO1 for disorders           About GeneDecksing

    OMIM gene information: 609595   
    OMIM disorders: 610644  
    UniProtKB/Swiss-Prot: RSPO1_HUMAN, Q2MKA7
  • Defects in RSPO1 are the cause of palmoplantar keratoderma with squamous cell carcinoma of skin and sex
    • reversal (PKKSCC) [MIM:610644]. This recessive syndrome is characterized by XX (female to male) SRY-independent sex
    reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin

    13 diseases for RSPO1:    About MalaCards
    palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal    palmoplantar hyperkeratosis and true hermaphroditism    sex reversal    palmoplantar keratosis
    squamous cell carcinoma    keratoderma    hermaphroditism    keratosis
    esophageal cancer    esophagitis    carcinoma    thyroiditis
    prostatitis

    2 Novoseek 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

    Publications
    for RSPO1 gene

    (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)
    About This Section

    PubMed articles for RSPO1 gene, integrated from 9 sources (see all 32):
    (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. (2005)
    2. R-spondin1 is essential in sex determination, skin differentiation and malignancy. (PubMed id 17041600)1, 2, 9 Parma P.... Camerino G. (2006)
    3. ZNRF3 promotes Wnt receptor turnover in an R-spondin-sensitive manner. (PubMed id 22575959)1, 2 Hao H.X....Cong F. (2012)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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. (2004)
    7. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. (PubMed id 18085567)1, 9 Tomaselli S....Grammatico P. (2008)
    8. 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. (2009)
    9. R-Spondin potentiates Wnt/b-catenin signaling through orphan receptors LGR4 and LGR5. (PubMed id 22815884)1 Ruffner H....Cong F. (2012)
    10. Human RSPO1/R-spondin1 is expressed during early ovar y development and augments I^-catenin signaling. (PubMed id 21297984)1 Tomaselli S....Achermann J.C. (2011)

    External Searches for RSPO1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing RSPO1 gene

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

    Other Databases showing RSPO1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RSPO1 gene

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

    Intellectual Property
    for RSPO1 gene

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

    GeneCards and IP:
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