|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:46,XX_sex_reversal
palmoplantar keratoderma
ovarian development
sex development
|
|
gptkbp:discoveredIn
|
2006
|
|
gptkbp:encodes
|
R-spondin-1 protein
|
|
gptkbp:Entrez_Gene_ID
|
284654
ENSG00000169218
|
|
gptkbp:expressedIn
|
gptkb:skin
gptkb:testis
|
|
gptkbp:fullName
|
R-spondin 1
|
|
gptkbp:function
|
regulates cell differentiation
regulates cell proliferation
activates Wnt/beta-catenin signaling pathway
|
|
gptkbp:HGNC_ID
|
HGNC:24666
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RSPO1
|
|
gptkbp:interactsWith
|
gptkb:LGR4
gptkb:LGR5
gptkb:LGR6
RNF43
ZNRF3
|
|
gptkbp:length
|
263 amino acids
|
|
gptkbp:locatedOnChromosome
|
1
1p34.3
|
|
gptkbp:mutationAssociatedWith
|
palmoplantar keratoderma
predisposition to squamous cell carcinoma
sex reversal in 46,XX individuals
|
|
gptkbp:OMIM
|
609595
|
|
gptkbp:orthologInMouse
|
Rspo1
|
|
gptkbp:proteinFamily
|
thrombospondin type 1 domain
furin-like domain
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
Q2MKA7
|
|
gptkbp:bfsParent
|
gptkb:R-spondin
gptkb:R-spondin_proteins
|
|
gptkbp:bfsLayer
|
7
|