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] See more...

Aliases for ARV1 Gene

Aliases for ARV1 Gene

  • ARV1 Homolog, Fatty Acid Homeostasis Modulator 2 3 5
  • Protein ARV1 3 4
  • ARV1 Homolog (S. Cerevisiae) 2
  • ARV1 Homolog (Yeast) 2
  • EIEE38 3
  • HARV1 4
  • ARV1 5

External Ids for ARV1 Gene

Previous GeneCards Identifiers for ARV1 Gene

  • GC01P229604
  • GC01P226843
  • GC01P227587
  • GC01P228149
  • GC01P227421
  • GC01P229181
  • GC01P231114
  • GC01P201599

Summaries for ARV1 Gene

Entrez Gene Summary for ARV1 Gene

  • 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]

GeneCards Summary for ARV1 Gene

ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator) is a Protein Coding gene. Diseases associated with ARV1 include Epileptic Encephalopathy, Early Infantile, 38 and Yemenite Deaf-Blind Hypopigmentation Syndrome. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis.

UniProtKB/Swiss-Prot Summary for ARV1 Gene

  • Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARV1 Gene

Genomics for ARV1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARV1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARV1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARV1

Top Transcription factor binding sites by QIAGEN in the ARV1 gene promoter:
  • aMEF-2
  • E47
  • Evi-1
  • GATA-1
  • Hand1
  • Lmo2
  • MEF-2
  • MEF-2A
  • Nkx6-1
  • NRSF form 2

Genomic Locations for ARV1 Gene

Genomic Locations for ARV1 Gene
chr1:230,978,981-231,000,733
(GRCh38/hg38)
Size:
21,753 bases
Orientation:
Plus strand
chr1:231,114,727-231,136,479
(GRCh37/hg19)
Size:
21,753 bases
Orientation:
Plus strand

Genomic View for ARV1 Gene

Genes around ARV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARV1 Gene

Proteins for ARV1 Gene

  • Protein details for ARV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2C2-ARV1_HUMAN
    Recommended name:
    Protein ARV1
    Protein Accession:
    Q9H2C2
    Secondary Accessions:
    • A8KAI4
    • Q5VSN7
    • Q5VSN8
    • Q5VSN9
    • Q5VSP0
    • Q5VSP2
    • Q9H2H2
    • Q9H5V6
    • Q9UFF5

    Protein attributes for ARV1 Gene

    Size:
    271 amino acids
    Molecular mass:
    31052 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15513.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • When transfected in S.cerevisiae, it can complement the absence of yeast of ARV1 protein, suggesting a conserved role in sphingolipid metabolism.

neXtProt entry for ARV1 Gene

Post-translational modifications for ARV1 Gene

  • Ubiquitination at Lys42 and Lys136
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARV1 Gene

Domains & Families for ARV1 Gene

Gene Families for ARV1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ARV1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARV1 Gene

GenScript: Design optimal peptide antigens:
  • Protein ARV1 (ARV1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H2C2

UniProtKB/Swiss-Prot:

ARV1_HUMAN :
  • Belongs to the ARV1 family.
Family:
  • Belongs to the ARV1 family.
genes like me logo Genes that share domains with ARV1: view

Function for ARV1 Gene

Molecular function for ARV1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892).

Phenotypes From GWAS Catalog for ARV1 Gene

Gene Ontology (GO) - Molecular Function for ARV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28514442
GO:0015248 sterol transporter activity TAS --
genes like me logo Genes that share ontologies with ARV1: view
genes like me logo Genes that share phenotypes with ARV1: view

Human Phenotype Ontology for ARV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARV1 Gene

MGI Knock Outs for ARV1:
  • Arv1 Arv1<tm1.2Geno>

Animal Model Products

CRISPR Products

miRNA for ARV1 Gene

miRTarBase miRNAs that target ARV1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARV1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARV1 Gene

Localization for ARV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARV1 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARV1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 3
peroxisome 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARV1: view

Pathways & Interactions for ARV1 Gene

PathCards logo

SuperPathways for ARV1 Gene

genes like me logo Genes that share pathways with ARV1: view

Pathways by source for ARV1 Gene

Gene Ontology (GO) - Biological Process for ARV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IBA 21873635
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006869 lipid transport IEA --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with ARV1: view

No data available for SIGNOR curated interactions for ARV1 Gene

Drugs & Compounds for ARV1 Gene

No Compound Related Data Available

Transcripts for ARV1 Gene

mRNA/cDNA for ARV1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARV1

Alternative Splicing Database (ASD) splice patterns (SP) for ARV1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - - - -
SP2: -
SP3: -
SP4: -
SP5:
SP6: - - -
SP7: - - -

Relevant External Links for ARV1 Gene

GeneLoc Exon Structure for
ARV1

Expression for ARV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARV1 Gene

Protein differential expression in normal tissues from HIPED for ARV1 Gene

This gene is overexpressed in Testis (33.5), Placenta (19.0), and Islet of Langerhans (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARV1 Gene



Protein tissue co-expression partners for ARV1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARV1

SOURCE GeneReport for Unigene cluster for ARV1 Gene:

Hs.275736

mRNA Expression by UniProt/SwissProt for ARV1 Gene:

Q9H2C2-ARV1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in liver and adipose.

Evidence on tissue expression from TISSUES for ARV1 Gene

  • Nervous system(4.5)
  • Bone marrow(4.3)
  • Kidney(2.4)
  • Liver(2.2)
  • Adrenal gland(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ARV1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARV1 Gene

Orthologs for ARV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARV1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARV1 30 31
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARV1 30 31
  • 88.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARV1 30 31
  • 86.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arv1 30 17 31
  • 80.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arv1 30
  • 78.15 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ARV1 31
  • 74 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARV1 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARV1 30 31
  • 75.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARV1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arv1 30
  • 71.08 (n)
Str.3754 30
Zebrafish
(Danio rerio)
Actinopterygii arv1 30 31
  • 63.07 (n)
OneToOne
Dr.11447 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7932 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG32442 31
  • 23 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea R05H5.5 31
  • 25 (a)
OneToOne
Species where no ortholog for ARV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ARV1 Gene

ENSEMBL:
Gene Tree for ARV1 (if available)
TreeFam:
Gene Tree for ARV1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARV1: view image

Paralogs for ARV1 Gene

(5) SIMAP similar genes for ARV1 Gene using alignment to 5 proteins:

  • ARV1_HUMAN
  • F6QB42_HUMAN
  • H0YEB4_HUMAN
  • H7C0E7_HUMAN
  • H7C484_HUMAN
genes like me logo Genes that share paralogs with ARV1: view

No data available for Paralogs for ARV1 Gene

Variants for ARV1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARV1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
725106 Likely Benign: not provided 230,990,175(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
734292 Likely Benign: not provided 230,979,178(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
738503 Likely Benign: not provided 230,988,310(+) A/C INTRON_VARIANT
742517 Benign: not provided 230,995,839(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
777986 Conflicting Interpretations: not provided 230,979,169(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ARV1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARV1 Gene

Variant ID Type Subtype PubMed ID
esv3589093 CNV gain 21293372
nsv1000488 CNV gain 25217958
nsv1011066 CNV gain 25217958

Variation tolerance for ARV1 Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARV1 Gene

Human Gene Mutation Database (HGMD)
ARV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARV1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARV1 Gene

Disorders for ARV1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARV1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ARV1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARV1_HUMAN
  • Epileptic encephalopathy, early infantile, 38 (EIEE38) [MIM:617020]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE38 inheritance is autosomal recessive. {ECO:0000269 PubMed:25558065, ECO:0000269 PubMed:27270415}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ARV1: view

No data available for Genatlas for ARV1 Gene

Publications for ARV1 Gene

  1. Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism. (PMID: 20663892) Tong F … Rader DJ (The Journal of biological chemistry 2010) 2 3 4
  2. Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1. (PMID: 12145310) Swain E … Nickels JT (The Journal of biological chemistry 2002) 2 3 4
  3. Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1. (PMID: 11063737) Tinkelenberg AH … Sturley SL (The Journal of biological chemistry 2000) 2 3 4
  4. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. (PMID: 27270415) Palmer EE … Lagor WR (Human molecular genetics 2016) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for ARV1 Gene

Sources for ARV1 Gene