VASH1 (Vasohibin 1) Gene
Key regulator of angiogenesis and tubulin detyrosination
Gene Information Card
| Symbol | VASH1 |
|---|---|
| Full Name | Vasohibin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 22846 ncbi.nlm.nih.gov/gene/22846 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q7L8A9 |
| OMIM ID | 608617 |
| HGNC ID | 25923 |
| Aliases | KIAA1036, VASH |
Description
VASH1 (vasohibin 1) encodes a protein that functions as an endogenous angiogenesis inhibitor. It is induced by vascular endothelial growth factor (VEGF) in endothelial cells and negatively regulates angiogenesis. Additionally, VASH1 acts as a tubulin carboxypeptidase, catalyzing the detyrosination of alpha-tubulin, thereby regulating microtubule dynamics and stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | VASH1 overexpression inhibits tumor angiogenesis; reduced expression correlates with poor prognosis in some cancers. | PMID: 16959974, 20068070 |
| Diabetic retinopathy | VASH1 levels are altered in retinal neovascularization, suggesting a regulatory role in pathological angiogenesis. | PMID: 19549890 |
| Rheumatoid arthritis | VASH1 is expressed in synovial tissue and may modulate inflammatory angiogenesis. | PMID: 21555414 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.8 | Low |
| Brain | 3.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.5 | Low |
| Kidney | 7.9 | Medium |
| Testis | 12.3 | Medium |
| Endothelial cells (aorta) | 25.0 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 28.5 | High expression; VEGF-inducible |
| HeLa | 6.2 | Moderate |
| HEK293 | 4.8 | Low |
| MCF7 | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• VEGF signaling pathway (Reactome: R-HSA-194138)
• Microtubule detyrosination (Reactome: R-HSA-9013408)
Protein Summary
Vasohibin 1 is a 365-amino-acid protein that localizes to the cytoplasm and is secreted. It contains a vasohibin domain and functions as both an angiogenesis inhibitor and a tubulin carboxypeptidase. The protein is induced by VEGF and acts in a negative feedback loop to limit angiogenesis. Its tubulin detyrosination activity regulates microtubule dynamics, impacting cell migration and division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VASH1 Knockout HEK293 Cell Line | EDJ-KQ7696 | Human | 22846 | Details Get a Quote |
| VASH1 Knockout A-549 Cell Line | EDJ-KQ33069 | Human | 22846 | Details Get a Quote |
| VASH1 Knockout HCT 116 Cell Line | EDJ-KQ33070 | Human | 22846 | Details Get a Quote |
| VASH1 Knockout HeLa Cell Line | EDJ-KQ33071 | Human | 22846 | Details Get a Quote |
