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  2. RSPO1 - R-spondin 1 Gene

RSPO1 - R-spondin 1 Gene

中文名称:R-spondin 1

种属: Homo sapiens

同用名: RSPO; CRISTIN3

基因 ID: 284654 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种分泌型激活蛋白,具有两个富含半胱氨酸的弗林蛋白酶样结构域和一个血小板反应蛋白 1 型结构域。编码的蛋白质是富含亮氨酸重复序列的 G 蛋白偶联受体 (LGR 蛋白) 的配体,并正向调节 Wnt 信号通路。在小鼠中,该蛋白诱导隐窝细胞快速增殖并促进肠上皮愈合,从而对化疗引起的不良反应提供保护作用。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables G protein-coupled receptor binding IPI
IPI: 通过物理相互作用推断
21727895 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17804805 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
22615920 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of Wnt signaling pathway IDA
IDA: 通过直接分析推断
22575959 GOA
involved in positive regulation of canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
17804805 GOA
involved in positive regulation of protein phosphorylation IDA
IDA: 通过直接分析推断
22615920 GOA
involved in regulation of receptor internalization IDA
IDA: 通过直接分析推断
17804805 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RSPO1 蛋白结构

TSP_1

TSP_1: Thrombospondin type 1 domain (151 - 202)

  • 0
  • 100
  • 200
  • 263 a.a.
蛋白主名 其他名称

R-spondin-1

R-spondin homolog

RSPO1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RSPO1 Q2MKA7 ZNRF3 Homo sapiens Q9ULT6
SPR
24165923
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 RSPO1 蛋白

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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