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OR5V1 Gene

protein-coding   GIFtS: 48
GCID: GC06M029323

Olfactory Receptor, Family 5, Subfamily V, Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Olfactory Receptor, Family 5, Subfamily V, Member 11 2
Olfactory Receptor OR6-262 3
6M1-212
hs6M1-212
Olfactory Receptor 5V12
Hs6M1-213

External Ids:    HGNC: 139721   Entrez Gene: 816962   Ensembl: ENSG000002437297   UniProtKB: Q9UGF63   

Export aliases for OR5V1 gene to outside databases

Previous GC identifers: GC06M029380 GC06M029431 GC06M029430 GC06M029345 GC06Mo29253


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OR5V1 Gene:
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the
perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled
receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain
structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G
protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the
genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent
of other organisms. (provided by RefSeq, Jul 2008)

GeneCards Summary for OR5V1 Gene:
OR5V1 (olfactory receptor, family 5, subfamily V, member 1) is a protein-coding gene. Diseases associated with OR5V1 include systemic lupus erythematosus, and lupus erythematosus. GO annotations related to this gene include G-protein coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR3A1.

UniProtKB/Swiss-Prot: OR5V1_HUMAN, Q9UGF6
Function: Odorant receptor (Potential)

Gene Wiki entry for OR5V1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the OR5V1 gene promoter:
         Sox5   Brachyury   HNF-4alpha2   STAT5A   HNF-4alpha1   Evi-1   E47   PPAR-alpha   Sox9   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOR5V1 promoter sequence
   Search Chromatin IP Primers for OR5V1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OR5V1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p22.1   Ensembl cytogenetic band:  6p22.1   HGNC cytogenetic band: 6p22.1

OR5V1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OR5V1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M029323:  view genomic region     (about GC identifiers)

Start:
29,323,010 bp from pter      End:
29,323,972 bp from pter
Size:
963 bases      Orientation:
minus strand

4 alternative locations:
Chr6-,NT_113891.2 841,926-842,973      Chr6-,NT_167249 663,979-665,026      Chr6-,NT_167246 626,454-627,501     
Chr6-,NT_167247 626,641-627,688     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OR5V1_HUMAN, Q9UGF6 (See protein sequence)
Recommended Name: Olfactory receptor 5V1  
Size: 321 amino acids; 36057 Da
Secondary accessions: A2BDZ0 B0S860 Q5SQI9 Q6NTB5 Q8IVL3

Explore the universe of human proteins at neXtProt for OR5V1: NX_Q9UGF6

Explore proteomics data for OR5V1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn5
  • Modification sites at PhosphoSitePlus
  • HORDE protein sequence for OR5V1

    See OR5V1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_110503.3  
    ENSEMBL proteins: 
     ENSP00000366359   ENSP00000443309  
    Reactome Protein details: Q9UGF6

    OR5V1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    OR5: GPCR / Class A : Olfactory receptors

    3 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000725 Olfact_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q9UGF6

    ProtoNet protein and cluster: Q9UGF6

    1 Blocks protein domain: IPB000725 Olfactory receptor signature

    UniProtKB/Swiss-Prot: OR5V1_HUMAN, Q9UGF6
    Similarity: Belongs to the G-protein coupled receptor 1 family


    OR5V1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OR5V1_HUMAN, Q9UGF6
    Function: Odorant receptor (Potential)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0004984olfactory receptor activity IEA--
         
    OR5V1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OR5V1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OR5V1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OR5V1_HUMAN, Q9UGF6: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    OR5V1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OR5V1 About    
    See pathways by source

    SuperPathContained pathways About
    1Olfactory Signaling Pathway
    Olfactory Signaling Pathway0.82
    Olfactory transduction0.82
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Peptide ligand-binding receptors
    GPCRs, Class A Rhodopsin-like0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for OR5V1
        GPCRs, Class A Rhodopsin-like

    1 Reactome Pathway for OR5V1
        Olfactory Signaling Pathway


    1 Kegg Pathway  (Kegg details for OR5V1):
        Olfactory transduction


    OR5V1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OR5V1
    Interactions:

        Search GeneGlobe Interaction Network for OR5V1

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway ----

    OR5V1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OR5V1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OR5V1 gene: 
    NM_030876.5  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377154 ENST00000543825(uc011dlo.2)
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OR5V1
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      QuantiTect SYBR Green Assays in human, mouse, rat OR5V1
      QuantiFast Probe-based Assays in human, mouse, rat OR5V1

    9 AceView cDNA sequences:

    AJ459857 NM_013937 AJ459854 AJ459855 NM_030876 AJ459851 AA936177 AJ459859 
    BC069149 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    OR5V1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAACCCTA
    OR5V1 Expression
    About this image

    OR5V1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OR5V1 Protein Expression
        Custom PCR Arrays for OR5V1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OR5V1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for OR5V1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Olfr1105
    Olfr1111
    olfactory receptor 1105
    olfactory receptor 1111
    81.33(n)1
    82.59(a)1
      17 (19.16 cM)5
    5452051  NM_001005485.21  NP_001005485.11 
     374924685 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    69(a)
    54(a)
    1 ↔ many
    1 ↔ many
    GL343253.1(632462-633400)
    GL343253.1(891485-892789)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004914361 olfactory receptor 5V1-like 57.73(n)
    58.76(a)
      100491436  XM_002945426.2  XP_002945472.2 


    ENSEMBL Gene Tree for OR5V1 (if available)
    TreeFam Gene Tree for OR5V1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OR5V1 gene
    OR3A12  OR3A32  OR3A22  
    Selected SIMAP similar genes for OR5V1 using alignment to 1 protein entry:     OR5V1_HUMAN(see all similar genes):
    OR3A3    OR5G3    OR10R3P    OR16-89    OR6N2    OR16-37
    OR16-88    OR16-90    OR17-137    OR17-16    OR1F12    OR1L8
    OR2B8P    OR2G3    OR2J4P    OR3A1    OR5A1    OR5A2

    OR5V1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OR5V1 (see all 88)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs73569511,2
    C,H--29322653(+) TATGAG/AGAATG 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs93570801,2
    C,F,H--29322866(+) GCTCAA/GGAATA 1 -- ds500115Minor allele frequency- G:0.09NS EA NA WA 2242
    rs779230851,2
    C,F--29322872(+) GAATAA/GGTACA 1 -- ds50015Minor allele frequency- G:0.06NA CSA WA EA 362
    rs119614901,2
    C,F,H--29322999(+) GAACCT/CGTGAG 1 -- ds50015Minor allele frequency- C:0.04WA CSA EU 1387
    rs92577691,2
    C,F,H--29323076(+) ACAGCT/CTCTTT 2 /E syn117Minor allele frequency- C:0.02NS EA NA CSA EU 7867
    rs1384537401,2
    C,F--29323114(+) TATAGG/AGTTTA 2 /P /S mis11Minor allele frequency- A:0.00NA 4548
    rs1999634731,2
    --29323142(+) CTGTAC/TAACAC 2 L syn10--------
    rs1414365211,2
    C,F--29323210(+) GATGGC/TGCTGC 2 T A mis12Minor allele frequency- T:0.00NA EU 5863
    rs1116831391,2
    C,F--29323215(+) CGCTGC/TCATAA 2 D G mis12Minor allele frequency- T:0.00CSA NA 4542
    rs412715461,2
    C,F--29323245(+) GGTGGG/CAGGCA 2 /S /C mis13Minor allele frequency- C:0.01NA EU 5985

    HapMap Linkage Disequilibrium report for OR5V1 ( 29323010 - 29323972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for OR5V1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830624CNV Loss17160897
    nsv520169CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OR5V1
    DNA2.0 Custom Variant and Variant Library Synthesis for OR5V1

    (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.)
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    4 diseases for OR5V1:    
    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    hiv-1    neuronitis


    OR5V1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OR5V1
    Human Genome Epidemiology (HuGE) Navigator: OR5V1 (5 documents)

    Export disorders for OR5V1 gene to outside databases

    (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)
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    PubMed articles for OR5V1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with OR5V1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variations at the human leukocyte antigen-linked olfactory receptor cluster do not influence female preferences for male odors. (PubMed id 19833159)1, 4 Thompson E.E....Ober C. (Hum. Immunol. 2010)
    2. Host determinants of HIV-1 control in African Americans. (PubMed id 20205591)1, 4 Pelak K.... . (J. Infect. Dis. 2010)
    3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    4. The human olfactory receptor gene family. (PubMed id 14983052)1, 2 Malnic B.... Buck L.B. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. Complex transcription and splicing of odorant receptor genes. (PubMed id 12637542)1, 2 Volz A.... Ziegler A. (J. Biol. Chem. 2003)
    7. Common variation contributes to the genetic architecture of social communication traits. (PubMed id 24047820)1 St Pourcain B....Smith G.D. (Mol Autism 2013)
    8. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (Nature 2011)
    9. Systematic association mapping identifies NELL1 as a novel IBD disease gene. (PubMed id 17684544)1 Franke A....Schreiber S. (PLoS ONE 2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 81696 HGNC: 13972 AceView: OR11A1andOR5V1 Ensembl:ENSG00000243729 euGenes: HUgn81696
    ECgene: OR5V1 Kegg: 81696 H-InvDB: OR5V1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OR5V1 Pharmacogenomics, SNPs, Pathways
    HORDE entry for OR5V1 The Human Olfactory Receptor Data Explorer at the Weizmann Institute of Science

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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