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

Gene ID: 64801, updated on 11-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
1q42.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (230979094..231000733)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230359572..230381205)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. Salian S, et al. Clin Genet, 2021 Nov. PMID 34296759
  2. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Davids M, et al. Mol Genet Metab, 2020 May. PMID 32165008, Free PMC Article
  3. A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures. Segel R, et al. Neurogenetics, 2020 Oct. PMID 32462292
  4. Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis. Ikeda A, et al. Yeast, 2016 Feb. PMID 26460143
  5. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Palmer EE, et al. Hum Mol Genet, 2016 Jul 15. PMID 27270415, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
    Title: Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
  2. A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
    Title: A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
  3. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
    Title: Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
  4. In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy
    Title: Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
  5. A novel function for Arv1 in regulation of cell division through promotion of the contractile actomyosin ring, which is independent of its lipid transporter activity.
    Title: Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow.
  6. Overexpression of human ARV1 could rescue the phenotypes associated with GPI anchor synthesis defect in the yeast arv1Delta mutant. Arv1 function in GPI biosynthesis may be conserved in all eukaryotes, from yeast to humans.
    Title: Complementation analysis reveals a potential role of human ARV1 in GPI anchor biosynthesis.
  7. These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism.
    Title: A 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.
  8. Arv1p has a role in sterol movement from the ER and in the ensuing regulation of hepatic cholesterol and bile acid metabolism
    Title: Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism.
  9. ARV1 plays a role in sphingolipid metabolism and complements yeast ARV1
    Title: Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 38
MedGen: C4310762 OMIM: 617020 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
  
involved_in cholesterol transport IEA
Inferred from Electronic Annotation
more info
  
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
  

General protein information

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Preferred Names
protein ARV1

NCBI Reference Sequences (RefSeq)

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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_001346992.2 → NP_001333921.1  protein ARV1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AF290878, AL732414, AL844165
    UniProtKB/TrEMBL
    H7C0E7
    Related
    ENSP00000394547.1, ENST00000435927.5

  2. NM_022786.3 → NP_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:33 → 222
    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_2023_10

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_024449202.2 → XP_024304970.1  protein ARV1 isoform X1

    UniProtKB/TrEMBL
    H7C0E7
    Conserved Domains (1) summary
    pfam04161
    Location:33 → 263
    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_054338307.1 → XP_054194282.1  protein ARV1 isoform X1

RNA

  1. XR_008486142.1 RNA Sequence

  2. XR_008486143.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2C2.1 GenPept UniProtKB/Swiss-Prot:Q9H2C2

Gene LinkOut

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