Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1570099690	C>T	Pathogenic	Splice donor variant

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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
MIRT1321366	hsa-miR-3120-3p	CLIP-seq
MIRT1321367	hsa-miR-3182	CLIP-seq
MIRT1321368	hsa-miR-3545-5p	CLIP-seq
MIRT1321369	hsa-miR-3622a-3p	CLIP-seq
MIRT1321370	hsa-miR-3622b-3p	CLIP-seq
MIRT1321371	hsa-miR-424	CLIP-seq
MIRT1321372	hsa-miR-4299	CLIP-seq
MIRT1321373	hsa-miR-4456	CLIP-seq
MIRT1321374	hsa-miR-4711-3p	CLIP-seq
MIRT1321375	hsa-miR-4757-5p	CLIP-seq
MIRT1321376	hsa-miR-497	CLIP-seq
MIRT1321377	hsa-miR-513c	CLIP-seq
MIRT1321378	hsa-miR-514b-5p	CLIP-seq
MIRT1321379	hsa-miR-548q	CLIP-seq
MIRT1321380	hsa-miR-1207-3p	CLIP-seq
MIRT1321381	hsa-miR-125a-3p	CLIP-seq
MIRT1321382	hsa-miR-146b-3p	CLIP-seq
MIRT1321383	hsa-miR-147	CLIP-seq
MIRT1321384	hsa-miR-22	CLIP-seq
MIRT1321385	hsa-miR-3173-5p	CLIP-seq
MIRT1321386	hsa-miR-3192	CLIP-seq
MIRT1321387	hsa-miR-346	CLIP-seq
MIRT1321388	hsa-miR-3650	CLIP-seq
MIRT1321389	hsa-miR-3934	CLIP-seq
MIRT1321390	hsa-miR-4288	CLIP-seq
MIRT1321391	hsa-miR-4504	CLIP-seq
MIRT1321374	hsa-miR-4711-3p	CLIP-seq
MIRT1321375	hsa-miR-4757-5p	CLIP-seq
MIRT1321392	hsa-miR-512-3p	CLIP-seq
MIRT1321393	hsa-miR-542-3p	CLIP-seq
MIRT1321394	hsa-miR-632	CLIP-seq
MIRT1321395	hsa-miR-644	CLIP-seq
MIRT1321396	hsa-miR-764	CLIP-seq
MIRT1321397	hsa-miR-874	CLIP-seq
MIRT2319780	hsa-miR-1226	CLIP-seq
MIRT2319781	hsa-miR-1915	CLIP-seq
MIRT2319782	hsa-miR-3660	CLIP-seq
MIRT2319783	hsa-miR-3921	CLIP-seq
MIRT2319784	hsa-miR-4526	CLIP-seq
MIRT2319785	hsa-miR-4530	CLIP-seq
MIRT2319786	hsa-miR-4653-5p	CLIP-seq
MIRT2319787	hsa-miR-4659a-3p	CLIP-seq
MIRT2319788	hsa-miR-4659b-3p	CLIP-seq
MIRT2319789	hsa-miR-4726-3p	CLIP-seq
MIRT2319790	hsa-miR-4733-3p	CLIP-seq
MIRT2615607	hsa-miR-1299	CLIP-seq
MIRT2615608	hsa-miR-3177-5p	CLIP-seq
MIRT2615609	hsa-miR-4261	CLIP-seq
MIRT2615610	hsa-miR-4300	CLIP-seq
MIRT2615611	hsa-miR-595	CLIP-seq
MIRT2615612	hsa-miR-875-3p	CLIP-seq
MIRT2615613	hsa-miR-920	CLIP-seq

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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
GO:0005102	Function	Signaling receptor binding	IPI	22615920
GO:0005515	Function	Protein binding	IPI	17804805, 22575959, 22815884, 23809763, 23891289, 24165923, 24349440, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	24431302
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005634	Component	Nucleus	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	22575959, 29769720
GO:0030177	Process	Positive regulation of Wnt signaling pathway	NAS	24431302
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	17804805, 22815884
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA

MIM	HGNC	e!Ensembl
609595	21679	ENSG00000169218

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

	KEGG		Reactome
	Wnt signaling pathway		Regulation of FZD by ubiquitination

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Palmoplantar hyperkeratosis and true hermaphroditism	Pathogenic	rs1570099690	RCV000001672
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	Pathogenic; Likely pathogenic	rs2148163144, rs2522603990	RCV000001670 RCV003338098
RSPO1-related disorder	Likely pathogenic	rs2522603990	RCV003946497

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Carcinoma Hepatocellular	Associate	40264052
Carcinoma Squamous Cell	Associate	35854363
Colorectal Neoplasms	Associate	22895193, 23638973, 29886802, 36811382, 39519079
Colorectal Neoplasms	Inhibit	28939678
Craniocerebral Trauma	Associate	29789649
Disorders of Sex Development	Associate	35854363
Esophageal Squamous Cell Carcinoma	Associate	31917882
Graves Ophthalmopathy	Associate	38130930
Inflammation	Associate	37737195
Keratoderma Palmoplantar	Associate	35854363
Leukemia Lymphocytic Chronic B Cell	Associate	20484983
Neoplasms	Associate	31563876, 35854363
Osteoarthritis	Associate	22127703
Ovarian Neoplasms	Associate	33109540
Small Cell Lung Carcinoma	Associate	33572899
Stomach Neoplasms	Associate	28219935
Thyroid Cancer Papillary	Associate	26416247, 36611933

RSPO1 (R-spondin 1)