Details for: ARV1

Gene ID: 64801

Symbol: ARV1

Ensembl ID: ENSG00000173409

Description: ARV1 homolog, fatty acid homeostasis modulator

Associated with

Other Information

Genular Protein ID: 1013215627

Symbol: ARV1_HUMAN

Name: Protein ARV1

UniProtKB Accession Codes:

Q9H2C2 A8KAI4 Q5VSN7 Q5VSN8 Q5VSN9 Q5VSP0 Q5VSP2 Q9H2H2 Q9H5V6 Q9UFF5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 13 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11063737

Title: Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1.

PubMed ID: 11063737

DOI: 10.1074/jbc.c000710200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12145310

Title: Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1.

PubMed ID: 12145310

DOI: 10.1074/jbc.m206624200

PubMed ID: 20663892

Title: Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism.

PubMed ID: 20663892

DOI: 10.1074/jbc.m110.165761

PubMed ID: 25558065

Title: Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PubMed ID: 25558065

DOI: 10.1016/j.celrep.2014.12.015

PubMed ID: 27270415

Title: Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

PubMed ID: 27270415

DOI: 10.1093/hmg/ddw157

Sequence Information:

  • Length: 271
  • Mass: 31052
  • Checksum: 35C065EB00FD4671
  • Sequence:
    • MGNGGRSGLQ QGKGNVDGVA ATPTAASASC QYRCIECNQE AKELYRDYNH GVLKITICKS 
CQKPVDKYIE YDPVIILINA ILCKAQAYRH ILFNTQINIH GKLCIFCLLC EAYLRWWQLQ 
DSNQNTAPDD LIRYAKEWDF YRMFAIAALE QTAYFIGIFT FLWVERPMTA KKKPNFILLL 
KALLLSSYGK LLLIPAVIWE HDYTSVCLKL IKVFVLTSNF QAIRVTLNIN RKLSFLAVLS 
GLLLESIMVY FFQSMEWDVG SDYAIFKSQD F

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.