Seroatlas · Human Serome Atlas

RSPO1

R-spondin-1

Also known as: FLJ40906, RSPO1_HUMAN, RSPONDIN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q2MKA7
Gene: RSPO1
Ensembl: ENSG00000169218
Chromosome: 1
Canonical length: 263 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Vesicles
Secretome location: Secreted in female reproductive system

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

263 residues, UniProt reviewed canonical sequence.

>Q2MKA7|RSPO1
     1  MRLGLCVVAL VLSWTHLTIS SRGIKGKRQR RISAEGSQAC AKGCELCSEV NGCLKCSPKL
    61  FILLERNDIR QVGVCLPSCP PGYFDARNPD MNKCIKCKIE HCEACFSHNF CTKCKEGLYL
   121  HKGRCYPACP EGSSAANGTM ECSSPAQCEM SEWSPWGPCS KKQQLCGFRR GSEERTRRVL
   181  HAPVGDHAAC SDTKETRRCT VRRVPCPEGQ KRRKGGQGRR ENANRNLARK ESKEAGAGSR
   241  RRKGQQQQQQ QGTVGPLTSA GPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RSPO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 34 nTPM

Expression across tissuesHPA

Tissue

endometrium: 34 nTPM
cervix: 23 nTPM
fallopian tube: 21 nTPM
vagina: 17 nTPM
smooth muscle: 12 nTPM
adipose tissue: 9.7 nTPM

Single-cell type

mesothelial cells: 44 nCPM
fallopian secretory cells: 23 nCPM
epicardial cells: 21 nCPM
smooth muscle cells: 19 nCPM
fibroblasts: 9.1 nCPM
breast secretory cells: 8.7 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 2.1 nTPM
white matter: 2 nTPM
cerebellum: 1.8 nTPM
thalamus: 1.8 nTPM
medulla oblongata: 1.7 nTPM
midbrain: 1.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RSPO1.

Disease | AllUniProt

Conditions RSPO1 is implicated in, by any mechanism.

Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal (PKKSCC) MIM:610644

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 93 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar hyperkeratosis and true hermaphroditism
RSPO1-related disorder
Differences in sex development

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.4
gnomAD pLI: 0
gnomAD missense Z: 0.65
DepMap mean gene effect: 0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RSPO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RSPO1 as an antibody target. Whether an autoantibody or antibody against RSPO1 could matter depends on whether native RSPO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RSPO1 is annotated as secreted, so native RSPO1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label RSPO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...