RASIP1: RAS Interacting Protein 1
A key regulator of endothelial cell function and vascular development
Gene Information Card
| Symbol | RASIP1 |
|---|---|
| Full Name | Ras interacting protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 54922 ncbi.nlm.nih.gov/gene/54922 |
| Ensembl ID | ENSG00000105641 |
| UniProt ID | Q5U651 |
| OMIM ID | 609542 |
| HGNC ID | 24845 |
| Aliases | RAIN, RAI1 |
Description
RASIP1 (Ras interacting protein 1) encodes a protein that interacts with Ras and is involved in endothelial cell function, particularly in vascular development and angiogenesis. It plays a critical role in the formation and maintenance of blood vessels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphatic malformations | Loss-of-function mutations in RASIP1 disrupt endothelial cell signaling and vascular integrity | ClinVar |
| Vascular anomalies | RASIP1 mutations impair angiogenesis and vascular development | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 6.7 | Low |
| Liver | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 15.0 | High expression in endothelial cells |
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Alters Ras binding domain, reduced function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the Ras binding domain or protein stability lead to loss of function, impairing endothelial cell signaling.
Gain of Function (GOF)
No gain-of-function mutations reported in RASIP1.
Dominant Negative (DN)
No dominant-negative mutations reported in RASIP1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • Ras protein signal transduction (GO:0007265) |
| • angiogenesis (GO:0001525) | • positive regulation of GTPase activity (GO:0043547) |
| • plasma membrane (GO:0005886) |
Pathways
• Ras signaling pathway
• Vascular endothelial growth factor (VEGF) signaling pathway
• Angiogenesis
Protein Summary
The RASIP1 protein is a cytoplasmic protein that interacts with Ras GTPases, modulating their activity. It is essential for endothelial cell migration, tube formation, and vascular network assembly. The protein contains a Ras-binding domain and is localized to the plasma membrane and cytoskeleton.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RASIP1 Knockout HEK293 Cell Line | EDJ-KQ14248 | Human | 54922 | Details Get a Quote |
| RASIP1 Knockout HeLa Cell Line | EDJ-KQ45509 | Human | 54922 | Details Get a Quote |
| RASIP1 Knockout A-549 Cell Line | EDJ-KQ64992 | Human | 54922 | Details Get a Quote |
| RASIP1 Knockout HCT 116 Cell Line | EDJ-KQ73439 | Human | 54922 | Details Get a Quote |
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