ARV1: A Key Regulator of Sterol Homeostasis and Membrane Trafficking
Comprehensive genomic and functional analysis of the ARV1 gene, its role in lipid metabolism, and associated disorders.
Gene Information Card
| Symbol | ARV1 |
|---|---|
| Full Name | ARV1 homolog, fatty acid homeostasis modulator |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 64881 ncbi.nlm.nih.gov/gene/64881 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q9H2C2 |
| OMIM ID | 611647 |
| HGNC ID | 29561 |
| Aliases | ARV1, ACAT related gene product 1, CGI-38, FLJ10534 |
Description
The ARV1 gene encodes a protein involved in sterol homeostasis and membrane trafficking. It is a transmembrane protein localized to the endoplasmic reticulum and Golgi apparatus, where it regulates cholesterol distribution and fatty acid metabolism. Mutations in ARV1 are associated with autosomal recessive epileptic encephalopathy, developmental delay, and intellectual disability. The protein is conserved across eukaryotes and plays a critical role in maintaining lipid balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 38 (EIEE38) | Loss-of-function mutations in ARV1 disrupt sterol homeostasis and membrane trafficking, leading to neuronal dysfunction and seizures. | ClinVar, OMIM |
| Developmental and epileptic encephalopathy (DEE) | Impaired ARV1 function causes abnormal lipid metabolism and synaptic vesicle trafficking, contributing to severe neurodevelopmental phenotypes. | ClinVar, OMIM |
| Intellectual disability, autosomal recessive | ARV1 mutations result in global developmental delay and cognitive impairment due to disrupted cellular lipid balance. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
| Adipose tissue | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.8 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 9.2 | Liver model |
| HEK293 (embryonic kidney) | 7.5 | Common cell line |
| MCF7 (breast cancer) | 6.1 | Breast cancer model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.676C>T (p.Arg226*) | Nonsense | Rare | Loss of function; associated with EIEE38 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein production |
| c.437G>A (p.Trp146*) | Nonsense | Rare | Loss of function; premature truncation |
| c.832_833del (p.Leu278Glufs*12) | Frameshift | Rare | Loss of function; altered reading frame |
Mutation functional classification
Loss of Function (LOF)
Most reported ARV1 mutations are loss-of-function, leading to reduced or absent protein activity, disrupting sterol homeostasis and membrane trafficking.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ARV1.
Dominant Negative (DN)
No dominant-negative mutations have been described for ARV1.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) | • cholesterol homeostasis (GO:0030301) |
| • cholesterol metabolic process (GO:0042632) | • steroid metabolic process (GO:0008202) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Cholesterol metabolism (Reactome: R-HSA-191273)
• Lipid digestion
• mobilization
• and transport (Reactome: R-HSA-73927)
• Endoplasmic reticulum to Golgi vesicle-mediated transport (Reactome: R-HSA-199977)
Protein Summary
The ARV1 protein (UniProt Q9H2C2) is a 278-amino acid transmembrane protein with multiple membrane-spanning domains. It localizes to the endoplasmic reticulum and Golgi apparatus, where it participates in sterol homeostasis and membrane trafficking. The protein is essential for proper cholesterol distribution and fatty acid metabolism. Loss-of-function mutations cause severe neurodevelopmental disorders, including epileptic encephalopathy. ARV1 is conserved from yeast to humans, highlighting its fundamental role in cellular lipid regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARV1 Knockout HEK293 Cell Line | EDJ-KQ12446 | Human | 64801 | Details Get a Quote |
| ARV1 Knockout HCT 116 Cell Line | EDJ-KQ40090 | Human | 64801 | Details Get a Quote |
| ARV1 Knockout A-549 Cell Line | EDJ-KQ41376 | Human | 64801 | Details Get a Quote |
| ARV1 Knockout HeLa Cell Line | EDJ-KQ41378 | Human | 64801 | Details Get a Quote |
