ARV1 Gene
protein-coding GIFtS: 44
GCID: GC01P231114
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ARV1 homolog (S. cerevisiae)(Previous name: ARV1 homolog (yeast) )
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Aliases
for ARV1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ARV1 Homolog (S. Cerevisiae)1 2 | | HARV11 | | ARV1 Homolog (Yeast)1 | | Protein ARV12 |
Export aliases for ARV1 gene to outside databasesPrevious GC identifers: GC01P229604 GC01P226843 GC01P227587 GC01P228149 GC01P227421 GC01P229181 GC01P201599 |
Summaries
for ARV1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: ARV1_HUMAN, Q9H2C2Function: May act as a mediator of sterol homeostasis (Potential)
|
Genomic Views
for ARV1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_167186.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ARV1 gene promoter:
MEF-2 Lmo2 NRSF form 2 GATA-1 E47 Evi-1 MEF-2A Nkx6-1 Hand1 aMEF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for ARV1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARV1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q42.2 Ensembl cytogenetic band: 1q42.2 HGNC cytogenetic band: 1q42.2ARV1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P231114: view genomic region
(about GC identifiers)
Start:
|
231,114,727 bp from pter |
End:
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231,136,479 bp from pter |
Size:
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21,753 bases |
Orientation:
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plus strand |
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Proteins
for ARV1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ARV1_HUMAN, Q9H2C2 (See
protein sequence)Recommended Name: Protein ARV1 Size: 271 amino acids; 31052 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Miscellaneous: When transfected in S.cerevisiae, it can complement the absence of yeast of ARV1 protein, suggesting aconserved role in sphingolipid metabolism
Sequence caution: Sequence=BAB15513.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence; Sequence=CAH73699.1; Type=Erroneous gene model prediction; Sequence=CAH73700.1; Type=Erroneous initiation;Sequence=CAH73701.1; Type=Erroneous gene model prediction; Sequence=CAI15333.1; Type=Erroneous gene model prediction;Sequence=CAI15334.1; Type=Erroneous initiation; Sequence=CAI15335.1; Type=Erroneous gene model prediction;
Secondary accessions: A8KAI4 Q5VSN7 Q5VSN8 Q5VSN9 Q5VSP0 Q5VSP2 Q9H2H2 Q9H5V6 Q9UFF5Explore the universe of human proteins at neXtProt for ARV1: NX_Q9H2C2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H2C2
ARV1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_073623.1
ENSEMBL proteins: ENSP00000312458 ENSP00000355618 ENSP00000436763 ENSP00000416039 ENSP00000394547 ENSP00000435420
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
ARV1 for ontologies About GeneDecksing
ARV1 Antibody Products:
Assay Products for ARV1: |
Protein
Domains /
Families
for ARV1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARV1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H2C2ProtoNet protein and cluster: Q9H2C2 UniProtKB/Swiss-Prot: ARV1_HUMAN, Q9H2C2Similarity: Belongs to the ARV1 family |
Function
for ARV1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ARV1_HUMAN, Q9H2C2Function: May act as a mediator of sterol homeostasis (Potential)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARV1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARV1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ARV1 (NM_022786) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARV1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARV1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARV1 |
|
Pathways & Interactions
for ARV1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARV1
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for ARV1 (Q9H2C23 ENSP000003124584) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006665 | sphingolipid metabolic process |
IEA | -- | | GO:0008206 | bile acid metabolic process |
IEA | -- | | GO:0030301 | cholesterol transport |
IEA | -- | | GO:0090181 | regulation of cholesterol metabolic process |
IEA | -- |
ARV1 for ontologies About GeneDecksing
|
Drugs & Compounds
for ARV1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ARV1
Search CenterWatch for drugs/clinical trials and news about ARV1
|
Transcripts
for ARV1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ARV1 gene: NM_022786.1 Unigene Cluster for ARV1: ARV1 homolog (S. cerevisiae) Hs.275736 [show with all ESTs]Unigene Representative Sequence: AK0929877 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000497753 ENST00000310256(uc009xfl.1 uc001huh.3) ENST00000366658
ENST00000480519 ENST00000450711 ENST00000435927 ENST00000459891
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARV1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARV1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ARV1 (NM_022786) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARV1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARV1 |
Additional cDNA sequence: AF271780.1 AF290878.1 AF321442.1 AK026629.1 AK092987.1 AK293049.1 AL122047.1 BC016309.1 11 DOTS entries: DT.456394 DT.91722197 DT.100677302 DT.97815327 DT.95089540 DT.100795473 DT.100795476 DT.92428100 DT.95089527 DT.95089539 DT.95292114 24/187 AceView cDNA sequences (see all 187): BM820217 CK430891 R94763 BI828191 AI347399 AA765138 CD367179 AF290878 AI561273 BQ000291 BU521276 BU738554 W84508 BM702666 BP350642 AA460848 N43893 BG433742 BM684617 CB306730 AI655403 AA018673 BU729600 AW664461
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ARV1 (see all 7) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b |
|---|
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| SP1: | | | | | | | | | - | | | | | | - | | | | | | | | | | - | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ARV1
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Expression
for ARV1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARV1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ARV1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARV1
SOURCE GeneReport for Unigene cluster: Hs.275736
SABiosciences Custom PCR Arrays for ARV1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARV1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARV1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARV1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARV1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARV1 |
Orthologs
for ARV1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ARV1 gene from 9/22 species (see all 22) About this table
ENSEMBL Gene Tree for ARV1 (if available)
TreeFam Gene Tree for ARV1 (if available) |
Paralogs
for ARV1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ARV1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ARV1 (231114727 - 231136479 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ARV1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARV1 |
|
Disorders
/ Diseases
for ARV1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARV1 for disorders About GeneDecksing
OMIM gene information: 611647
OMIM disorders: --
1  disease for ARV1: About MalaCardscholesterol
Export disorders for ARV1 gene to outside databases
|
Publications
for ARV1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ARV1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with ARV1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1. (PubMed id 12145310)1, 2, 3 Swain E....Nickels J.T. (2002)
- Mutations in yeast ARV1 alter intracellular sterol distribution and are complemented by human ARV1. (PubMed id 11063737)1, 2, 3 Tinkelenberg A.H....Sturley S.L. (2000)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Decreased expression of ARV1 results in cholesterol r etention in the endoplasmic reticulum and abnormal bile acid metabolism. (PubMed id 20663892)1 Tong F....Rader D.J. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Large-scale analysis of the human ubiquitin-related p roteome. (PubMed id 16196087)1 Matsumoto M....Nakayama K.I. (2005)
|
External Searches for ARV1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ARV1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ARV1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ARV1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ARV1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ARV1 gene:
Search GeneIP for patents involving ARV1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ARV1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ARV1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARV1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARV1 | | | OriGene Protein Over-expression Lysate for ARV1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ARV1 | | OriGene 3'-UTR Clone for ARV1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARV1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARV1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ARV1 | | OriGene Custom Protein Services for ARV1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ARV1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARV1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARV1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARV1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARV1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARV1 |
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 |  |  |  | |
| | | | Search Tocris compounds for ARV1 |
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 | | | ARV1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARV1 |
|  |  |  | | | | ThermoFisher Antibody for ARV1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARV1 |
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