RSPO1 - R-spondin 1 Gene

Also Known as RSPO; CRISTIN3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284654

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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.
HY-P72784	RSPO1/R-spondin-1 Protein, Human (HEK293, His)	Q2MKA7-1 (S21-A263)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P72784A	RSPO1/R-spondin-1 Protein, Human (125a.a, HEK293, His)	Q2MKA7-1 (S21-A146)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700443	RSPO1/R-spondin-1 Protein, Human (HEK293, His-Avi)	Q2MKA7-1 (R31-A263)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700253AF	Animal-Free RSPO1/R-spondin-1 Protein, Human (243a.a, HEK293, His, SUMO)	Q2MKA7-1 (S21-A263)	≥ 95%, as determined by reducing SDS-PAGE.

RSPO1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85357	R-Spondin Antibody (YA5049)	WB, ELISA	Human
HY-P85357A	R-Spondin Antibody (YA5049)(PBS only)	WB, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10810	QPH-FR	Inhibitor	99.54%	Unkown
HY-RS12305	RSPO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16692	Rspo1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23127	Rspo1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990501	Anti-RSPO1 Antibody	Inhibitor	96.18%	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