RSPO1 - R-spondin 1 Gene

Homo sapiens

Also known as RSPO; CRISTIN3

Gene ID: 284654 | Gene type: protein coding

About RSPO1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,611,350-37,634,892 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in endometrium (RPKM 16.2), skin (RPKM 2.3) and 5 other tissues.

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 regulates the Wnt signaling pathway. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

RSPO1 Products(4)

mRNA	Protein	Name
NM_001038633.4	NP_001033722.1	R-spondin-1 isoform 1 precursor
NM_001242908.2	NP_001229837.1	R-spondin-1 isoform 1 precursor
NM_001242909.2	NP_001229838.1	R-spondin-1 isoform 2
NM_001242910.2	NP_001229839.1	R-spondin-1 isoform 3 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables G protein-coupled receptor binding	IPI IPI: Inferred from physical interaction	21727895	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17804805	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	22615920	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of Wnt signaling pathway	IDA IDA: Inferred from direct assay	22575959	GOA
involved in positive regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	17804805	GOA
involved in positive regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	22615920	GOA
involved in regulation of receptor internalization	IDA IDA: Inferred from direct assay	17804805	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RSPO1 Protein Structure

TSP_1

0
100
200
263 a.a.

Protein Preferred Names

Protein Names

R-spondin-1

R-spondin homolog

RSPO1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RSPO1	Q2MKA7	ZNRF3	Homo sapiens	Q9ULT6	SPR	24165923

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RSPO1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7114	RSPO1/R-spondin-1 Protein, Human (CHO, His)	Q2MKA7-1 (S21-A263)	≥95%
HY-P72784	RSPO1/R-spondin-1 Protein, Human (HEK293, His)	Q2MKA7-1 (S21-A263)	≥95%
HY-P72784A	RSPO1/R-spondin-1 Protein, Human (125a.a, HEK293, His)	Q2MKA7-1 (S21-A146)	≥95%
HY-P700443	RSPO1/R-spondin-1 Protein, Human (HEK293, His-Avi)	Q2MKA7-1 (R31-A263)	≥95%
HY-P700253AF	Animal-Free RSPO1/R-spondin-1 Protein, Human (243a.a, HEK293, His, SUMO)	Q2MKA7-1 (S21-A263)	≥95%

Related Diseases

Diseases

Alias

Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal

Palmoplantar Hyperkeratosis And True Hermaphroditism	Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And Sex Reversal	Palmoplantar Hyperkeratosis-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Keratoderma, Palmoplantar, With Squamous Cell Carcinoma Of Skin And Sex Reversal	PKKSCC

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Mucositis

Inflammatory Disease Of Mucous Membrane

Gastrointestinal Mucositis

46,Xx Sex Reversal

46,Xx Testicular Disorder Of Sex Development	46,Xx Testicular Dsd
De La Chapelle Syndrome	Srxx
Xx, Male Syndrome	46, Xx Testicular Disorders Of Sex Development

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome	Rudiger Syndrome 1
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1	EEC1
Eec Syndrome 1	Eec Syndrome-1
Walker-Clodius Syndrome	Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Eec	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome	Ectrodactyly-Cleft Lip/Palate Syndrome
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate	Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome	Ectrodactyly-Cleft Lip-Palate Syndrome
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Tetraamelia Syndrome

Tetra-Amelia Syndrome	Tetraamelia-Multiple Malformations Syndrome
Tetra-Amelia	Tetra-Amelia, Autosomal Recessive
Tetraamelia, Autosomal Recessive	Total Amelia
Zimmer Phocomelia	Tetams
Zimmer Taub Sova Syndrome

Mullerian Aplasia And Hyperandrogenism

Mullerian Duct Failure And Hyperandrogenism	Wnt4 Deficiency
Müllerian Aplasia And Hyperandrogenism	Biason-Lauber Syndrome
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome	Mayer-Rokitansky-Küster-Hauser-Like Syndrome
Müllerian Duct Failure	Wnt4 Müllerian Aplasia
Wnt4 Müllerian Aplasia And Ovarian Dysfunction	MULLAPL
Wnt4 Mullerian Aplasia And Ovarian Dysfunction

Chemical Colitis

Hermaphroditism

Colon Adenoma

Adenomatous Polyp Of Colon

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

Intestinal Benign Neoplasm

Intestinal Neoplasms	Intestinal Tumors
Intestine Growth	Neoplasm Of Intestinal Tract

Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome	Pmds
Persistent Oviduct Syndrome	Persistent Muellerian Duct Syndrome
Female Genital Ducts In Otherwise Normal Male	Hernia Uteri Inguinale
Persistent Mullerian Duct Syndrome, Types 1 And 2	Persistent Mullerian Derivatives

Norrie Disease

Atrophia Bulborum Hereditaria	Episkopi Blindness
Pseudoglioma	ND
Norrie-Warburg Disease	Anderson-Warburg Syndrome
Fetal Iritis Syndrome	Norrie Syndrome
Norrie-Warburg Syndrome	Ndp
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration	Norrie'S Disease
Oligophrenia Microphthalmus	Pseudoglioma Congenita
Whitnall-Norman Syndrome

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome	Fipa
Gastrointestinal Defects And Immunodeficiency Syndrome	Multiple Gastrointestinal Atresias
Familial Isolated Pituitary Adenoma	Intestinal Atresia, Multiple
Multiple Intestinal Atresia	GIDID1
Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency	Minat
Gidid	Meddra:10028210
Familial Isolated Pituitary Adenoma Syndrome	Intestinal Atresia Multiple
Combined Immunodeficiency-Enteropathy Spectrum	Cid-Mia/Early-Onset Ibd
Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency	Mia
Gastrointestinal Defect And Immunodeficiency Syndrome	Pituitary Adenoma Predisposition
Pituitary Adenoma, Familial Isolated

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Colonic Benign Neoplasm

Colon Neoplasm	Colonic Mass
Colonic Tumor	Neoplasm Of Colon
Neoplasm Of The Colon	Colonic Neoplasms
Colon Cancer	Colon Carcinoma Nos
Colonic Cancer	Metastatic Colon Cancer Nos

Lymphangioma

Lymphatic Malformation	Lymphatic Malformations
Benign Lymphangioma	Congenital Lymphangioma
Lymphangiomas

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12305	RSPO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RSPO1	VGNC	VGNC:45782
Rattus norvegicus	RSPO1	RGD	RGD:1565558
Bos taurus	RSPO1	VGNC	VGNC:34188
Macaca mulatta	RSPO1	VGNC	VGNC:77081
Mus musculus	RSPO1	MGD	MGI:2183426
Felis catus	RSPO1	VGNC	VGNC:64796
Others	RSPO1	NCBI

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