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Rspo1
Gene Detail
Symbol

Name
ID
Rspo1
R-spondin homolog (Xenopus laevis)
MGI:2183426
Synonyms
Rspondin, R-spondin
Feature Type
protein coding gene
Genetic Map
Chromosome 4
57.96 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr4:124986430-125009099 bp, + strand
From VEGA annotation of GRCm38

  22670 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:52148  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RSPO1
Gene Tree: Rspo1

Human
homologs
RSPO1, R-spondin 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 284654
neXtProt AC: NX_Q2MKA7

Human Synonyms: CRISTIN3, RSPO

Human Chr (Location): 1p34.3; chr1:37611350-37634923 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human RSPO1

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Genomic Mutations involving Rspo1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous inactivation of this gene leads to abnormal ovarian development and masculinized features including pseudohermaphroditism in genital ducts, depletion of fetal oocytes, male-like vascularization, and ectopic testosterone production in the ovaries.
 
Interactions
Rspo1 interacts with 124 markers (Mir30a, Mir30c-1, Mir30c-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process canonical Wnt signaling pathway, male meiosis, ...
Component extracellular region, extracellular space, ...
Function G-protein coupled receptor binding, heparin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (43 records)
Data Summary: Results (390)    Tissues (340)    Images (43)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 8
RNA in situ 361
Northern blot 16
RT-PCR 5
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA RSPO1 ; Xenbase rspo1 ; ZFIN rspo1    NEW 
Molecular
reagents
All nucleic(18) Genomic(1) cDNA(14) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000009245 (Evidence)
Ensembl Gene Model ENSMUSG00000028871 (Evidence)
Entrez Gene 192199 (Evidence)
UniGene 42202
DFCI TC1588113
DoTS DT.55237140
NIA Mouse Gene Index U004794
Consensus CDS Project CCDS18633.1
International Mouse Phenotyping Consortium Status Rspo1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009245 VEGA Gene Model | MGI Sequence Detail 22670 C57BL/6J ±  kb
transcript OTTMUST00000020932 VEGA | MGI Sequence Detail 1834 Not Applicable 
polypeptide OTTMUSP00000009593 VEGA | MGI Sequence Detail 265 Not Applicable 

For the selected sequences
All sequences(23) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(104 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006212 Furin-like repeat
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR000884 Thrombospondin, type 1 repeat
Protein Ontology PR:000014330 R-spondin-1
References
(Earliest) J:77554 Kamata T, et al., R-spondin, a novel gene with thrombospondin type 1 domain, was expressed in the dorsal neural tube and affected in Wnts mutants. Biochim Biophys Acta. 2004 Jan 5;1676(1):51-62
(Latest) J:216158 Rastetter RH, et al., Marker genes identify three somatic cell types in the fetal mouse ovary. Dev Biol. 2014 Oct 15;394(2):242-52
All references(79)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory