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

    Gene ID: 64801, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:29561
    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
    DEE38; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See ARV1 in Genome Data Viewer
    Location:
    1q42.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (230979094..231000733)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230359572..230381205)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231114840..231136479)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373167 Neighboring gene uncharacterized LOC124904844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:231037919-231038420 Neighboring gene tetratricopeptide repeat domain 13 Neighboring gene MPRA-validated peak762 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2721 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sterol transfer activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in bile acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    acts_upstream_of_or_within cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular sterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of intracellular cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of plasma membrane sterol distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sphingolipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cortical endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5046..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/TrEMBL
      H7C0E7
      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
      A8KAI4, Q5VSN7, Q5VSN8, Q5VSN9, Q5VSP0, Q5VSP2, Q9H2C2, Q9H2H2, Q9H5V6, Q9UFF5
      UniProtKB/TrEMBL
      H7C484
      Related
      ENSP00000312458.2, ENST00000310256.7
      Conserved Domains (1) summary
      pfam04161
      Location:33222
      Arv1; Arv1-like family

    RNA

    1. NR_144538.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF290878, AL732414, AL844165

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      230979094..231000733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449202.2XP_024304970.1  protein ARV1 isoform X1

      UniProtKB/TrEMBL
      H7C0E7
      Conserved Domains (1) summary
      pfam04161
      Location:33263
      Arv1; Arv1-like family

    RNA

    1. XR_002957381.2 RNA Sequence

    2. XR_007063028.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      230359572..230381205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338307.1XP_054194282.1  protein ARV1 isoform X1

      UniProtKB/TrEMBL
      H7C0E7

    RNA

    1. XR_008486142.1 RNA Sequence

    2. XR_008486143.1 RNA Sequence