SPRY1 (Sprouty RTK Signaling Antagonist 1): Gene, Function, and Clinical Relevance
A comprehensive biomedical overview of SPRY1, a negative regulator of receptor tyrosine kinase signaling, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SPRY1 |
|---|---|
| Full Name | Sprouty RTK Signaling Antagonist 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 10252 ncbi.nlm.nih.gov/gene/10252 |
| Ensembl ID | ENSG00000164056 |
| UniProt ID | O43609 |
| OMIM ID | 602465 |
| HGNC ID | 11269 |
| Aliases | hSPRY1, SPRY1, sprouty homolog 1 (Drosophila) |
Description
SPRY1 encodes a protein that functions as a negative regulator of receptor tyrosine kinase (RTK) signaling, particularly the MAPK/ERK pathway. It is involved in various cellular processes including cell proliferation, differentiation, and apoptosis. SPRY1 is implicated in development and cancer, where its dysregulation can contribute to tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Loss of SPRY1 expression leads to enhanced RTK signaling and tumor progression. | ClinVar, COSMIC |
| Breast Cancer | Reduced SPRY1 expression is associated with poor prognosis and increased metastasis. | COSMIC, PubMed |
| Lung Cancer | SPRY1 promoter hypermethylation silences gene expression, promoting oncogenic signaling. | COSMIC, PubMed |
| Colorectal Cancer | Downregulation of SPRY1 contributes to constitutive MAPK activation. | COSMIC, PubMed |
| Hereditary Spastic Paraplegia | Mutations in SPRY1 have been linked to this neurological disorder. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Heart | 5.1 | Low |
| Kidney | 8.7 | Low |
| Liver | 3.4 | Not detected |
| Lung | 12.5 | Medium |
| Muscle | 2.0 | Not detected |
| Ovary | 15.3 | Medium |
| Pancreas | 4.2 | Low |
| Prostate | 18.9 | Medium |
| Skin | 6.8 | Low |
| Testis | 22.4 | Medium |
| Thyroid | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 15.0 | Moderate expression |
| MCF7 (Breast) | 8.2 | Low expression |
| PC3 (Prostate) | 20.5 | High expression |
| HepG2 (Liver) | 3.1 | Very low |
| K562 (Leukemia) | 5.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
| c.250C>T (p.Arg84Trp) | Missense | Rare | Altered protein function, potential dominant-negative effect |
| c.400_401insA (p.Thr134AsnfsTer5) | Frameshift | Rare | Truncated protein, loss of function |
| c.550G>A (p.Gly184Ser) | Missense | Rare | Unknown significance, possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SPRY1, such as frameshift or nonsense variants, result in reduced or absent protein activity, leading to enhanced RTK signaling and potential oncogenic transformation.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well-documented; however, some missense variants may alter the protein's regulatory domain, potentially enhancing its inhibitory function, but evidence is limited.
Dominant Negative (DN)
Certain missense mutations, like p.Arg84Trp, may exert a dominant-negative effect by interfering with the wild-type protein's ability to inhibit RTK signaling, thereby promoting pathway activation.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of receptor signaling pathway via JAK-STAT | • negative regulation of MAPK cascade |
| • regulation of cell proliferation | • regulation of cell differentiation |
| • protein binding | • identical protein binding |
| • cytoplasm | • plasma membrane |
| • cytosol |
Pathways
• MAPK/ERK signaling pathway
• RTK signaling pathway
• FGF signaling pathway
• EGF signaling pathway
• VEGF signaling pathway
Protein Summary
SPRY1 is a 315-amino acid protein that acts as a negative feedback regulator of receptor tyrosine kinase (RTK) signaling. It is induced by RTK activation and inhibits the MAPK/ERK cascade by interacting with components such as GRB2 and RAF1. The protein contains a cysteine-rich domain and a C-terminal domain essential for its inhibitory function. SPRY1 is localized to the cytoplasm and membrane, and its expression is tightly regulated during development and in adult tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPRY1 Knockout HEK293 Cell Line | EDJ-KQ6975 | Human | 10252 | Details Get a Quote |
| RSPRY1 Knockout HEK293 Cell Line | EDJ-KQ10543 | Human | 89970 | Details Get a Quote |
| RSPRY1 Knockout A-549 Cell Line | EDJ-KQ37981 | Human | 89970 | Details Get a Quote |
| RSPRY1 Knockout HCT 116 Cell Line | EDJ-KQ37982 | Human | 89970 | Details Get a Quote |
| RSPRY1 Knockout HeLa Cell Line | EDJ-KQ37983 | Human | 89970 | Details Get a Quote |
| SPRY1 Knockout HCT 116 Cell Line | EDJ-KQ31671 | Human | 10252 | Details Get a Quote |
| SPRY1 Knockout HeLa Cell Line | EDJ-KQ55360 | Human | 10252 | Details Get a Quote |
| SPRY1 Knockout A-549 Cell Line | EDJ-KQ63840 | Human | 10252 | Details Get a Quote |
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