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OR52A1 Gene

protein-coding   GIFtS: 53
GCID: GC11M005172

Olfactory Receptor, Family 52, Subfamily A, 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 52, Subfamily A, Member 11 2
Odorant Receptor HOR3'Beta42 3
Olfactory Receptor OR11-3192 3
HPFH1OR2 3
Olfactory Receptor 52A12

External Ids:    HGNC: 83181   Entrez Gene: 235382   Ensembl: ENSG000001820707   UniProtKB: Q9UKL23   

Export aliases for OR52A1 gene to outside databases

Previous GC identifers: GC11U990203 GC11M005474 GC11M005131 GC11M005136 GC11M005129


(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 OR52A1 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 OR52A1 Gene:
OR52A1 (olfactory receptor, family 52, subfamily A, member 1) is a protein-coding gene. Diseases associated with OR52A1 include thalassemia, and neuronitis. GO annotations related to this gene include transmembrane signaling receptor activity and G-protein coupled receptor activity. An important paralog of this gene is OR52L1.

UniProtKB/Swiss-Prot: O52A1_HUMAN, Q9UKL2
Function: Odorant receptor (Potential)

Gene Wiki entry for OR52A1 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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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the OR52A1 gene promoter:
         RP58   Tal-1beta   Evi-1   YY1   PPAR-gamma1   Pax-3   PPAR-gamma2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOR52A1 promoter sequence
   Search Chromatin IP Primers for OR52A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OR52A1


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

OR52A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OR52A1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005172:  view genomic region     (about GC identifiers)

Start:
5,172,664 bp from pter      End:
5,173,599 bp from pter
Size:
936 bases      Orientation:
minus strand

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: O52A1_HUMAN, Q9UKL2 (See protein sequence)
Recommended Name: Olfactory receptor 52A1  
Size: 312 amino acids; 35322 Da
Secondary accessions: Q6IF31

Explore the universe of human proteins at neXtProt for OR52A1: NX_Q9UKL2

Explore proteomics data for OR52A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn5
  • HORDE protein sequence for OR52A1

    See OR52A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036507.2  
    ENSEMBL proteins: 
     ENSP00000369725   ENSP00000333684  
    Reactome Protein details: Q9UKL2

    OR52A1 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:
    OR52: 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 Q9UKL2

    ProtoNet protein and cluster: Q9UKL2

    1 Blocks protein domain: IPB000725 Olfactory receptor signature

    UniProtKB/Swiss-Prot: O52A1_HUMAN, Q9UKL2
    Similarity: Belongs to the G-protein coupled receptor 1 family


    OR52A1 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: O52A1_HUMAN, Q9UKL2
    Function: Odorant receptor (Potential)

         Genatlas biochemistry entry for OR52A1:
    olfactory receptor family 52,subfamily A,member 1,expressed in primary tissues containing erythroid cells,and in
    erythroid tissues cell lines,G protein coupled receptor superfamily

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS10512676
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0004984olfactory receptor activity IEA--
         
    OR52A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OR52A1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OR52A1
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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
    O52A1_HUMAN, Q9UKL2: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS10512676
    GO:0016021integral component of membrane ----

    OR52A1 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 OR52A1 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for OR52A1
        Olfactory Signaling Pathway


    1 Kegg Pathway  (Kegg details for OR52A1):
        Olfactory transduction


    OR52A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OR52A1
    Interactions:

        Search GeneGlobe Interaction Network for OR52A1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for OR52A1 (ENSP000003697254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRBK2ENSP000003175784STRING: ENSP00000317578
    ARRB2ENSP000002692604STRING: ENSP00000269260
    GNALENSP000003340514STRING: ENSP00000334051
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS10512676
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007608sensory perception of smell TAS10512676

    OR52A1 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 OR52A1 (O52A1)



    (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,
    Conferences by KenesGroup, 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 OR52A1 gene: 
    NM_012375.2  

    Unigene Cluster for OR52A1:

    Olfactory receptor, family 52, subfamily A, member 1
    Hs.553520
    Unigene Representative Sequence: NM_012375
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380367 ENST00000328942(uc010qyy.2)
    miRNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat OR52A1

    Additional mRNA sequence: 

    BC111691.1 BC111722.1 

    1 DOTS entry:

    DT.91826463 

    1 AceView cDNA sequence:

    NM_012375 

    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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    OR52A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTAAAAAT
    OR52A1 Expression
    About this image

    OR52A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OR52A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.553520
        Custom PCR Arrays for OR52A1
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    In Situ
    Assay Products:
     

     
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    (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 human and mouse.

    Orthologs for OR52A1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Olfr681 olfactory receptor 68 73.38(n)
    72.73(a)
      18369  NM_013620.2  NP_038648.2 


    ENSEMBL Gene Tree for OR52A1 (if available)
    TreeFam Gene Tree for OR52A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OR52A1 gene
    OR52L12  OR52M12  OR52N42  OR52N52  OR52K12  OR52K22  OR52R12  OR52N12  
    OR52N22  OR52A52  
    Selected SIMAP similar genes for OR52A1 using alignment to 1 protein entry:     O52A1_HUMAN(see all similar genes):
    OR52A5    OR52A4    OR52R1    OR51E1    OR52D1    OR52B6
    OR52E2    OR52E5    OR52J3    OR52M1    OR51E2    OR51L1
    OR52B2    OR52E4    OR52E8    OR52K3P    OR52Z1    OR51H1P

    OR52A1 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 OR52A1 (see all 86)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1120989901,2
    C--4831621(+) GACCCC/-AAACC 2 /S /VS fra11Minor allele frequency- -:0.50CSA 2
    rs1918852361,2
    --5086529(+) CAGGGA/GTGATC 1 -- ds50010--------
    rs74825051,2
    C,F,A,H--5086663(+) TTAGAG/AGAATA 1 -- ds500124Minor allele frequency- A:0.48NS EA NA WA CSA 2342
    rs782227741,2
    C,F--5086736(+) TCACAC/TTTCTC 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs1128842961,2
    C,F--5086956(+) TGAATG/ACGAAT 2 /R syn13Minor allele frequency- A:0.01CSA WA NA 4676
    rs1999863891,2
    C--5086958(+) AATGCA/GAATCT 2 R C mis10--------
    rs107686111,2
    C,F,H--5087051(+) AGGGGG/AGATGT 2 /P /S mis130Minor allele frequency- A:0.04NS EA NA WA CSA EU 8163
    rs1384733021,2
    C,F--5087073(+) CCTATG/ATGTGA 2 /H /Y mis11Minor allele frequency- A:0.00NA 4552
    rs1998765231,2
    C--5087094(+) GAAGGC/TAAGGA 2 T A mis10--------
    rs2018326201,2
    --5087095(+) AAGGCA/GAGGAG 2 L syn10--------

    HapMap Linkage Disequilibrium report for OR52A1 ( 5172664 - 5173599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for OR52A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1024n71CNV Loss21882294
    dgv1023n71CNV Loss21882294
    nsv896920CNV Loss21882294
    nsv896925CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OR52A1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for OR52A1:    About MalaCards
    thalassemia    neuronitis


    OR52A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OR52A1
    Human Genome Epidemiology (HuGE) Navigator: OR52A1 (1 document)

    Export disorders for OR52A1 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 OR52A1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with OR52A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An olfactory receptor gene is located in the extended human beta- globin gene cluster and is expressed in erythroid cells. (PubMed id 10512676)1, 2, 3 Feingold E.A.... Forget B.G. (Genomics 1999)
    2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    3. 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. (Genome Res. 2004)
    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. Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters. (PubMed id 11121057)1, 2 Bulger M.... Hardison R. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
    7. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 23538 HGNC: 8318 AceView: OR52A1 Ensembl:ENSG00000182070 euGenes: HUgn23538
    ECgene: OR52A1 Kegg: 23538 H-InvDB: OR52A1

    (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 OR52A1 Pharmacogenomics, SNPs, Pathways
    HORDE entry for OR52A1 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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    Patent Information for OR52A1 gene:
    Search GeneIP for patents involving OR52A1

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     OriGene Antibodies for OR52A1   OriGene RNAi products in human, mouse, rat for OR52A1  
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     Block miRNA regulation of human, mouse, rat OR52A1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing OR52A1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OR52A1 Predesigned siRNA for gene silencing in human, mouse, rat OR52A1
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     Search Tocris compounds for OR52A1 (O52A1)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for OR52A1
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OR52A1
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