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Aliases for ARV1 Gene

Aliases for ARV1 Gene

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

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 Encephalopathy. Among its related pathways are Terpenoid backbone biosynthesis and Metabolism.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ARV1 Gene

Genomics for ARV1 Gene

Regulatory Elements for ARV1 Gene

Enhancers for ARV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G230976 1.4 FANTOM5 ENCODE 10.3 -0.4 -354 3.6 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 TTC13 C1orf131 ARV1 EXOC8 FAM89A LOC101927604 SPRTN GC01P230904
GH01G231037 1.1 ENCODE 11 +60.5 60521 4.0 HDGF PKNOX1 ARNT AGO1 SIN3A FEZF1 ZNF2 KLF13 ZNF263 SP3 C1orf131 ARV1 FAM89A LOC644006
GH01G231625 1.1 ENCODE 10.8 +648.6 648596 3.3 HNRNPUL1 PKNOX1 FOXA2 AGO1 ARID4B SIN3A FEZF1 ZNF548 FOS ZNF263 C1orf131 DISC1 ARV1 COG2 RNU5A-5P
GH01G230971 1.1 Ensembl ENCODE 10.2 -6.1 -6107 2.2 HDAC1 ATF1 ZNF473 WRNIP1 ZNF335 GATA2 ETV6 CREM REST ELF1 FAM89A COG2 ARV1 TTC13 C1orf198 GC01P230904
GH01G230902 0.9 FANTOM5 7.7 -76.4 -76435 0.3 PKNOX1 INSM2 FEZF1 ZNF121 ZSCAN5C ZNF263 ZNF680 ZEB2 ZNF843 PRDM6 LOC101927604 C1orf198 ARV1 TTC13 COG2 C1orf131 GNPAT GC01P230904 RN7SL837P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARV1 on UCSC Golden Path with GeneCards custom track

Promoters for ARV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000021667 -181 2401 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for ARV1 Gene

Chromosome:
1
Start:
230,978,981 bp from pter
End:
231,000,733 bp from pter
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
    Miscellaneous:
    • When transfected in S.cerevisiae, it can complement the absence of yeast of ARV1 protein, suggesting a conserved role in sphingolipid metabolism.
    SequenceCaution:
    • Sequence=BAB15513.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAH73699.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73700.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH73701.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15333.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15334.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI15335.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

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

Protein Domains for ARV1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARV1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for ARV1 Gene

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).

Gene Ontology (GO) - Molecular Function for ARV1 Gene

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

Phenotypes for ARV1 Gene

GenomeRNAi human phenotypes for ARV1:
genes like me logo Genes that share phenotypes with ARV1: view

Animal Model Products

CRISPR Products

miRNA for ARV1 Gene

miRTarBase miRNAs that target ARV1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
peroxisome 2

Gene Ontology (GO) - Cellular Components for ARV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
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

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:0006695 cholesterol biosynthetic process TAS --
GO:0006810 transport IEA --
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

Unigene Clusters for ARV1 Gene

ARV1 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ARV1

Expression for ARV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ARV1 Gene



Protein tissue co-expression partners for ARV1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARV1 Gene:

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(4.4)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with ARV1: view

Primer Products

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 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ARV1 34 35
  • 88.44 (n)
cow
(Bos Taurus)
Mammalia ARV1 34 35
  • 86.96 (n)
mouse
(Mus musculus)
Mammalia Arv1 34 16 35
  • 80.33 (n)
rat
(Rattus norvegicus)
Mammalia Arv1 34
  • 78.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARV1 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARV1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARV1 34 35
  • 75.88 (n)
lizard
(Anolis carolinensis)
Reptilia ARV1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arv1 34
  • 71.08 (n)
Str.3754 34
zebrafish
(Danio rerio)
Actinopterygii arv1 34 35
  • 63.07 (n)
Dr.11447 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7932 34
fruit fly
(Drosophila melanogaster)
Insecta CG32442 35
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R05H5.5 35
  • 25 (a)
OneToOne
Species where no ortholog for ARV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ARV1 Gene

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

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 from dbSNP and Humsavar for ARV1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs730882241 Pathogenic, Epileptic encephalopathy, early infantile, 38 (EIEE38) [MIM:617020] 230,995,876(+) GCTAC(A/G)GAAAA nc-transcript-variant, reference, missense
rs150619347 Pathogenic 230,988,440(+) TAAAT(A/G)TAAGT splice-donor-variant
rs1000158508 -- 230,999,368(+) AGCCT(A/G)CAACC intron-variant
rs1000160939 -- 230,982,609(+) CAGTA(A/C)TTTAT intron-variant
rs1000218663 -- 230,982,890(+) TACTT(C/T)GGTCT intron-variant

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)

Relevant External Links for ARV1 Gene

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

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

Disorders for ARV1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARV1 Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 38
  • eiee38
encephalopathy
  • brain diseases
yemenite deaf-blind hypopigmentation syndrome
  • warburg thomsen syndrome
- 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.

Relevant External Links for ARV1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARV1
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 D.J. (J. Biol. Chem. 2010) 2 3 4 64
  2. Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1. (PMID: 12145310) Swain E. … Nickels J.T. Jr. (J. Biol. Chem. 2002) 2 3 4 64
  3. Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1. (PMID: 11063737) Tinkelenberg A.H. … Sturley S.L. (J. Biol. Chem. 2000) 2 3 4 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ARV1 Gene

Sources for ARV1 Gene

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