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RSPO1 R-spondin 1 [ Homo sapiens (human) ]

Gene ID: 284654, updated on 18-Sep-2018

Summary

Official Symbol
RSPO1provided by HGNC
Official Full Name
R-spondin 1provided by HGNC
Primary source
HGNC:HGNC:21679
See related
Ensembl:ENSG00000169218 MIM:609595; Vega:OTTHUMG00000004321
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RSPO; CRISTIN3
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]
Expression
Biased expression in endometrium (RPKM 16.2), skin (RPKM 2.3) and 5 other tissues See more
Orthologs

Genomic context

See RSPO1 in Genome Data Viewer
Location:
1p34.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (37611350..37634923, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38076821..38100595, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene dynein axonemal light intermediate chain 1 Neighboring gene G protein nucleolar 2 Neighboring gene chromosome 1 open reading frame 109 Neighboring gene cell division cycle associated 8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
MedGen: C3149931 OMIM: 610644 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog

Pathways from BioSystems

  • Regulation of FZD by ubiquitination, organism-specific biosystem (from REACTOME)
    Regulation of FZD by ubiquitination, organism-specific biosystemWNT responsiveness is influenced by expression levels of FZD and LRP proteins. Levels of these receptors at the cell surface are regulated in part by endocytosis, but the mechanisms are not fully el...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Wnt signaling network, organism-specific biosystem (from Pathway Interaction Database)
    Wnt signaling network, organism-specific biosystem
    Wnt signaling network

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ40906

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
frizzled binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
R-spondin-1
Names
R-spondin homolog
roof plate-specific spondin-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012239.2 RefSeqGene

    Range
    4897..28470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001038633.3NP_001033722.1  R-spondin-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001033722.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK098225, AL513220, DB273983, DQ318235
    Consensus CDS
    CCDS41304.1
    UniProtKB/Swiss-Prot
    Q2MKA7
    Related
    ENSP00000383846.1, OTTHUMP00000180612, ENST00000401068.1, OTTHUMT00000012476
    Conserved Domains (2) summary
    PTZ00441
    Location:141227
    PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    pfam15913
    Location:42144
    Furin-like_2; Furin-like repeat, cysteine-rich
  2. NM_001242908.1NP_001229837.1  R-spondin-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001229837.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL513220, DB273983, DQ165084
    Consensus CDS
    CCDS41304.1
    UniProtKB/Swiss-Prot
    Q2MKA7
    Related
    ENSP00000348944.2, OTTHUMP00000275754, ENST00000356545.6, OTTHUMT00000012477
    Conserved Domains (2) summary
    PTZ00441
    Location:141227
    PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    pfam15913
    Location:42144
    Furin-like_2; Furin-like repeat, cysteine-rich
  3. NM_001242909.1NP_001229838.1  R-spondin-1 isoform 2

    See identical proteins and their annotated locations for NP_001229838.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and uses an alternate splice site in the 5' region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK098225, AL513220, DB273983
    Consensus CDS
    CCDS55591.1
    UniProtKB/Swiss-Prot
    Q2MKA7
    Related
    ENSP00000481178.1, OTTHUMP00000275752, ENST00000615459.4, OTTHUMT00000012475
    Conserved Domains (2) summary
    cd00064
    Location:73115
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam15913
    Location:15117
    Furin-like_2; Furin-like repeat, cysteine-rich
  4. NM_001242910.1NP_001229839.1  R-spondin-1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001229839.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' UTR and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AL513220, DB273983, DQ165085
    Consensus CDS
    CCDS55590.1
    UniProtKB/Swiss-Prot
    Q2MKA7
    Related
    ENSP00000479832.1, OTTHUMP00000275753, ENST00000612451.4, OTTHUMT00000280560
    Conserved Domains (2) summary
    cd00064
    Location:100142
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam15913
    Location:42144
    Furin-like_2; Furin-like repeat, cysteine-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    37611350..37634923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710583.4XP_006710646.1  R-spondin-1 isoform X1

    See identical proteins and their annotated locations for XP_006710646.1

    UniProtKB/Swiss-Prot
    Q2MKA7
    Conserved Domains (2) summary
    PTZ00441
    Location:141227
    PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    pfam15913
    Location:42144
    Furin-like_2; Furin-like repeat, cysteine-rich

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173640.1: Suppressed sequence

    Description
    NM_173640.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein.
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