ARV1 (ARV1 homolog, fatty acid homeostasis modulator)

2014-11-01  

Identity

HGNC
LOCATION
1q42.2
LOCUSID
ALIAS
DEE38,EIEE38
FUSION GENES

Other Information

Locus ID:

NCBI: 64801
MIM: 611647
HGNC: 29561
Ensembl: ENSG00000173409

Variants:

dbSNP: 64801
ClinVar: 64801
TCGA: ENSG00000173409
COSMIC: ARV1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173409ENST00000310256Q9H2C2
ENSG00000173409ENST00000310256A0A024R3V6
ENSG00000173409ENST00000366658A0A0A0MRI7
ENSG00000173409ENST00000435927H7C0E7
ENSG00000173409ENST00000450711H7C484
ENSG00000173409ENST00000459891H0YEB4
ENSG00000173409ENST00000480519F6QB42

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121453102002Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1.24
242731682014A 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.14
206638922010Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism.11
264601432016Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis.5
272704152016Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.5
271047452016Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow.2

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/arv1