RSPO1 (R-spondin 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 284654
Gene name R-spondin 1
Gene symbol RSPO1
Synonyms (NCBI Gene)
CRISTIN3RSPO
Chromosome 1
Chromosome location 1p34.3
Summary 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.
1
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.
57
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609595 21679 ENSG00000169218
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Palmoplantar hyperkeratosis and true hermaphroditism Pathogenic rs1570099690 RCV000001672
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Pathogenic; Likely pathogenic rs2148163144, rs2522603990 RCV000001670
RCV003338098
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RSPO1-related disorder Likely pathogenic rs2522603990 RCV003946497
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (89)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XX Testicular Disorders of Sex Development 46, XX Gonadal Sex Reversal BEFREE 17041600, 18250097, 29575617
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31579414
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28543708
★★★★★
★☆☆☆☆
Found in Text Mining only
Anonychia congenita Anonychia Pubtator 23809763 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 27693487
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 37737195 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26889781, 28472820
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22895193, 28219935 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Ductal carcinoma Pubtator 24373193 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only