Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64801
MIM: 611647
HGNC: 29561
Ensembl: ENSG00000173409
Variants:
dbSNP: 64801
ClinVar: 64801
TCGA: ENSG00000173409
COSMIC: ARV1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism | REACTOME | R-HSA-1430728 |
| Metabolism of lipids and lipoproteins | REACTOME | R-HSA-556833 |
| Cholesterol biosynthesis | REACTOME | R-HSA-191273 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34296759 | 2021 | Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. | 2 |
| 34296759 | 2021 | Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. | 2 |
| 32165008 | 2020 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | 7 |
| 32462292 | 2020 | A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures. | 4 |
| 32165008 | 2020 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | 7 |
| 32462292 | 2020 | A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures. | 4 |
| 26460143 | 2016 | Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis. | 9 |
| 27104745 | 2016 | Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow. | 6 |
| 27270415 | 2016 | Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. | 10 |
| 26460143 | 2016 | Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis. | 9 |
| 27104745 | 2016 | Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow. | 6 |
| 27270415 | 2016 | Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. | 10 |
| 24273168 | 2014 | A functional, genome-wide evaluation of liposensitive yeast identifies the "ARE2 required for viability" (ARV1) gene product as a major component of eukaryotic fatty acid resistance. | 19 |
| 24273168 | 2014 | A functional, genome-wide evaluation of liposensitive yeast identifies the "ARE2 required for viability" (ARV1) gene product as a major component of eukaryotic fatty acid resistance. | 19 |
| 20663892 | 2010 | Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism. | 12 |
Citation
Dessen P
ARV1 (ARV1 homolog, fatty acid homeostasis modulator)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60543/teaching-explorer/new-content/
