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    ARV1 ARV1 homolog, fatty acid homeostasis modulator [ Homo sapiens (human) ]

    Gene ID: 64801, updated on 17-Jun-2019

    Summary

    Official Symbol
    ARV1provided by HGNC
    Official Full Name
    ARV1 homolog, fatty acid homeostasis modulatorprovided by HGNC
    Primary source
    HGNC:HGNC:29561
    See related
    Ensembl:ENSG00000173409 MIM:611647
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EIEE38
    Summary
    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 encephalopathy 38. [provided by RefSeq, Nov 2016]
    Expression
    Ubiquitous expression in testis (RPKM 15.4), thyroid (RPKM 10.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See ARV1 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (230979049..231000733)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231114823..231136479)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373167 Neighboring gene RNA, 7SL, cytoplasmic 837, pseudogene Neighboring gene tetratricopeptide repeat domain 13 Neighboring gene ring finger protein 4 pseudogene Neighboring gene microRNA 1182 Neighboring gene family with sequence similarity 89 member A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Cholesterol biosynthesis, organism-specific biosystem (from REACTOME)
      Cholesterol biosynthesis, organism-specific biosystemCholesterol is synthesized de novo from from acetyl CoA. The overall synthetic process is outlined in the figure below. Enzymes whose regulation plays a major role in determining the rate of choleste...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sterol transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    bile acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of intracellular cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of plasma membrane sterol distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sphingolipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cortical endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052022.1 RefSeqGene

      Range
      5001..26685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346992.2NP_001333921.1  protein ARV1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AF290878, AL732414, AL844165
      UniProtKB/Swiss-Prot
      Q9H2C2
      Related
      ENSP00000394547.1, ENST00000435927.5
    2. NM_022786.3NP_073623.1  protein ARV1 isoform 2

      See identical proteins and their annotated locations for NP_073623.1

      Status: REVIEWED

      Source sequence(s)
      AF290878
      Consensus CDS
      CCDS1589.1
      UniProtKB/Swiss-Prot
      Q9H2C2
      UniProtKB/TrEMBL
      A0A024R3V6
      Related
      ENSP00000312458.2, ENST00000310256.7
      Conserved Domains (1) summary
      pfam04161
      Location:33222
      Arv1; Arv1-like family

    RNA

    1. NR_144538.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF290878, AL732414, AL844165

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      230979049..231000733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449202.1XP_024304970.1  protein ARV1 isoform X1

      Conserved Domains (1) summary
      pfam04161
      Location:33263
      Arv1; Arv1-like family

    RNA

    1. XR_002957381.1 RNA Sequence

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