RSPRY1 Gene: Function, Mutations, and Associated Diseases
Comprehensive resource on RSPRY1 (Ring Finger And SPRY Domain Containing 1): genomic data, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | RSPRY1 |
|---|---|
| Full Name | Ring finger and SPRY domain containing 1 |
| Gene Type | protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 285590 ncbi.nlm.nih.gov/gene/285590 |
| Ensembl ID | ENSG00000161980 |
| UniProt ID | Q8N7A1 |
| OMIM ID | 616723 |
| HGNC ID | 29420 |
| Aliases | DKFZp686O24118, FLJ13154, MGC138215 |
Description
RSPRY1 encodes a protein containing a RING finger domain and a SPRY domain. The protein is predicted to have E3 ubiquitin ligase activity and may play a role in bone development. Mutations in RSPRY1 are associated with spondylometaphyseal dysplasia (SMD), a rare skeletal disorder. The gene is expressed in various tissues, with highest expression in the kidney and liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylometaphyseal dysplasia (SMD) | Loss-of-function mutations in RSPRY1 lead to impaired bone development, likely due to disrupted ubiquitination and protein degradation pathways. | ClinVar, OMIM (616723) |
| Spondyloepimetaphyseal dysplasia (SEMD) | Similar to SMD, mutations in RSPRY1 can cause a more severe form of skeletal dysplasia. | ClinVar, OMIM (616723) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 18.2 | High |
| Liver | 15.7 | High |
| Testis | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.1 | High expression in embryonic kidney cells |
| HepG2 | 18.5 | High expression in liver cancer cells |
| A549 | 10.2 | Moderate expression in lung cancer cells |
| MCF7 | 7.8 | Low expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare | Likely loss-of-function; associated with SMD |
| c.337G>A (p.Gly113Arg) | Missense | Rare | Likely loss-of-function; associated with SMD |
| c.1000C>T (p.Arg334Ter) | Nonsense | Rare | Loss-of-function; truncating protein |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in RSPRY1 are loss-of-function, leading to reduced protein function and causing skeletal dysplasias.
Gain of Function (GOF)
No evidence for gain-of-function mutations in RSPRY1.
Dominant Negative (DN)
No evidence for dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • metal ion binding | • ubiquitin-protein transferase activity |
| • zinc ion binding | • protein ubiquitination |
| • negative regulation of bone mineralization |
Pathways
• Ubiquitin-mediated proteolysis
• Bone development and mineralization
Protein Summary
The RSPRY1 protein is 1,234 amino acids long and contains a RING finger domain (residues 1-40) and a SPRY domain (residues 300-500). It is predicted to function as an E3 ubiquitin ligase, targeting proteins for degradation. The protein is localized in the cytoplasm and nucleus. Mutations affecting the RING domain or SPRY domain disrupt its function, leading to skeletal abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
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