• Gene id: 64801

Gene Summary

• Gene Symbol: ARV1   Gene   UCSC   Ensembl
• Aliases: EIEE38
• Gene name: ARV1 homolog, fatty acid homeostasis modulator
• Alternate names: protein ARV1,
• Gene location: 1q42.2 (230979081: 231000732)     Exons: 8     NC_000001.11
• Gene summary(Entrez): this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic enc
• OMIM: 611647

Protein Summary

• Protein general information: Q9H2C2  
  • Name: Protein ARV1 (hARV1)
  • Length: 271  
  • Mass: 31052
  • Tissue specificity: Ubiquitous. Highly expressed in liver and adipose. {ECO
• Sequence:

  MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVI
  ILINAILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALE
  QTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRV
  TLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF

• Structural information:
  • Interpro: IPR007290  
  • STRING: ENSP00000312458
• Other Databases: GeneCards:  ARV1  Malacards:  ARV1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016125	sterol metabolic process	IBA	biological process
GO:0032366	intracellular sterol transport	IBA	biological process
GO:0032541	cortical endoplasmic reticulum	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0006665	sphingolipid metabolic process	IBA	biological process
GO:0097036	regulation of plasma membrane sterol distribution	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0032383	regulation of intracellular cholesterol transport	IMP	biological process
GO:0090181	regulation of cholesterol metabolic process	IMP	biological process
GO:0032366	intracellular sterol transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015248	sterol transporter activity	TAS	molecular function
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0030301	cholesterol transport	IEA	biological process
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)