RSPO1 (R-spondin 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284654
Gene name Gene Name - the full gene name approved by the HGNC.
R-spondin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPO1
Synonyms (NCBI Gene) Gene synonyms aliases
CRISTIN3, RSPO
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez 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 re
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1570099690 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(57)
miRTarBase ID miRNA Experiments Reference
MIRT017565 hsa-miR-335-5p Microarray 18185580
MIRT1321362 hsa-miR-15a CLIP-seq
MIRT1321363 hsa-miR-15b CLIP-seq
MIRT1321364 hsa-miR-16 CLIP-seq
MIRT1321365 hsa-miR-195 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IPI 21727895
GO:0001934 Process Positive regulation of protein phosphorylation IDA 22615920
GO:0002090 Process Regulation of receptor internalization IDA 17804805
GO:0005102 Function Signaling receptor binding IBA
GO:0005102 Function Signaling receptor binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609595 21679 ENSG00000169218
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q2MKA7
Protein name R-spondin-1 (Roof plate-specific spondin-1) (hRspo1)
Protein function Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by ex
PDB 4BSO , 4BSP , 4BSR , 4BSS , 4BST , 4BSU , 4CDK , 4KNG , 4KT1 , 4LI2 , 4QXF , 8WVU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15913 Furin-like_2 40 → 142 Furin-like repeat, cysteine-rich Domain
PF00090 TSP_1 151 → 206 Thrombospondin type 1 domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:17041600}.
Sequence 
MRLGLCVVALVLSWTHLTISSRGIKGKRQRRISAEGSQACAKGCELCSEVNGCLKCSPKL
FILLERNDIRQVGVCLPSCPPGYFDARNPDMNKCIKCKIEHCEACFSHNFCTKCKEGLYL
HKGRCYPACPEGSSAANGTMECSSPAQCEMSEWSPWGPCSKKQQLCGFRRGSEERTRRVL
HAPVGDHAACSDTKETRRCTVRRVPCPEGQKRRKGGQGRRENANRNLARKESKEAGAGSR
RRKGQQQQQQQGTVGPLTSAGPA
Sequence length 263
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Wnt signaling pathway   Regulation of FZD by ubiquitination
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Palmoplantar Hyperkeratosis And True Hermaphroditism palmoplantar hyperkeratosis and true hermaphroditism rs1570099690 N/A
Palmoplantar Keratoderma-XX Sex Reversal-Predisposition To Carcinoma Syndrome palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome rs2147483647 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26356813
Adenoma Associate 29789649
Adenomatous Polyposis Coli Associate 22895193, 39519079
Anonychia congenita Associate 23809763
Arthritis Rheumatoid Associate 37737195
Axial osteomalacia Associate 32761137
Calcinosis Cutis Associate 36811382
Carcinogenesis Associate 22895193, 28219935
Carcinoma Ductal Associate 24373193
Carcinoma Ductal Breast Associate 24373193