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OR6C1 Gene

protein-coding   GIFtS: 47
GCID: GC12P055715

Olfactory Receptor, Family 6, Subfamily C, 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 6, Subfamily C, Member 11 2
OST2672 3
Olfactory Receptor 6C12

External Ids:    HGNC: 83551   Entrez Gene: 3903212   Ensembl: ENSG000002053307   UniProtKB: Q96RD13   

Export aliases for OR6C1 gene to outside databases

Previous GC identifers: GC00U990606 GC12P054001 GC12P054002


(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 OR6C1 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 OR6C1 Gene:
OR6C1 (olfactory receptor, family 6, subfamily C, member 1) is a protein-coding gene. Diseases associated with OR6C1 include atrophic gastritis, and gastritis. GO annotations related to this gene include G-protein coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR6C70.

UniProtKB/Swiss-Prot: OR6C1_HUMAN, Q96RD1
Function: Odorant receptor (Potential)

Gene Wiki entry for OR6C1 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_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the OR6C1 gene promoter:
         GR   Tal-1beta   GATA-1   RORalpha2   PPAR-gamma1   FAC1   GR-alpha   PPAR-gamma2   ITF-2   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for OR6C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OR6C1


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

Entrez Gene cytogenetic band: 12q13.2   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13.13

OR6C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OR6C1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P055715:  view genomic region     (about GC identifiers)

Start:
55,714,384 bp from pter      End:
55,715,319 bp from pter
Size:
936 bases      Orientation:
plus 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: OR6C1_HUMAN, Q96RD1 (See protein sequence)
Recommended Name: Olfactory receptor 6C1  
Size: 312 amino acids; 35660 Da
Secondary accessions: B2RNM0

Explore the universe of human proteins at neXtProt for OR6C1: NX_Q96RD1

Explore proteomics data for OR6C1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn3
  • Modification sites at PhosphoSitePlus
  • HORDE protein sequence for OR6C1

    See OR6C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001005182.1  
    ENSEMBL proteins: 
     ENSP00000368990  
    Reactome Protein details: Q96RD1

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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:
    OR6: 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 Q96RD1

    ProtoNet protein and cluster: Q96RD1

    1 Blocks protein domain: IPB000725 Olfactory receptor signature

    UniProtKB/Swiss-Prot: OR6C1_HUMAN, Q96RD1
    Similarity: Belongs to the G-protein coupled receptor 1 family


    OR6C1 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: OR6C1_HUMAN, Q96RD1
    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--
         
    OR6C1 for ontologies           About GeneDecksing


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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
    OR6C1_HUMAN, Q96RD1: 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--

    OR6C1 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 OR6C1 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 OR6C1
        Olfactory Signaling Pathway


    1 Kegg Pathway  (Kegg details for OR6C1):
        Olfactory transduction


    OR6C1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OR6C1
    Interactions:

        Search GeneGlobe Interaction Network for OR6C1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OR6C1 (ENSP000003689904) via UniProtKB, MINT, STRING, and/or I2D (see all 273)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OR52E6ENSP000003288784STRING: ENSP00000369279 STRING: ENSP00000328878
    OR2AT4ENSP000003048464STRING: ENSP00000304846
    OR2C1ENSP000003077264STRING: ENSP00000307726
    OR2C3ENSP000003554434STRING: ENSP00000355443
    OR2Y1ENSP000003124034STRING: ENSP00000312403
    About this table

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

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

    OR6C1 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 OR6C1



    (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 OR6C1 gene: 
    NM_001005182.1  

    Unigene Cluster for OR6C1:

    Olfactory receptor, family 6, subfamily C, member 1
    Hs.553763
    Unigene Representative Sequence: BC136957
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000379668(uc010spi.2)
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    Additional mRNA sequence: 

    BC136957.1 BC136965.1 

    1 AceView cDNA sequence:

    NM_001005182 

    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: AAATGGTATG

    OR6C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OR6C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.553763
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    In Situ
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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 OR6C1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Olfr8021 , 5 olfactory receptor 8021, 5 83.82(n)1
    84.89(a)1
      10 (77.46 cM)5
    2589341  NM_146932.11  NP_667143.11 
     1296817995 


    ENSEMBL Gene Tree for OR6C1 (if available)
    TreeFam Gene Tree for OR6C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OR6C1 gene
    OR6C702  OR6C652  OR6C752  OR6C62  OR2AP12  OR6C32  OR6C42  OR6C762  
    OR6C22  OR6C682  OR6C742  
    Selected SIMAP similar genes for OR6C1 using alignment to 1 protein entry:     OR6C1_HUMAN(see all similar genes):
    OR6C3    OR6C75    OR6C70    OR6C74    OR6C76    OR6C2
    OR6C4    OR6C68    OR2AP1    OR6C6    OR6C65    OR6T1
    OR6M1    OR8K1    OR6X1    OR8D1    OR11H7    OR5B12

    OR6C1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for OR6C1
    PGOHUM00000239800 PGOHUM00000239801


    (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 OR6C1 (see all 133)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1445287271,2
    --55712393(+) TATATA/GTTATA 1 -- us2k10--------
    rs1161600691,2
    F--55712406(+) ATATAT/CAATAA 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1878731651,2
    --55712505(+) TTAAGC/TTATAT 1 -- us2k10--------
    rs1147093191,2
    F--55712633(+) TCAGAC/TGTAGT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1921665141,2
    --55712741(+) AAATTA/GCTATT 1 -- us2k10--------
    rs1841083051,2
    --55712761(+) GAATAC/TACAAT 1 -- us2k10--------
    rs2014658341,2
    --55712911(+) ACACA-/TAGG  
            
    TAGGC
    1 -- us2k10--------
    rs1996801681,2
    --55712920(+) TAGGC-/TGAA  
      ATATCA
    TGAAA
    1 -- us2k10--------
    rs1886640331,2
    --55712925(+) TGAAAC/TATCAT 1 -- us2k10--------
    rs1484578921,2
    --55713037(+) TGAAGC/TTGTTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for OR6C1 ( 55714384 - 55715319 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for OR6C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv718CNV Insertion18451855
    nsv82CNV Insertion15895083
    nsv826381CNV Loss20364138
    nsv438211CNV Loss16468122

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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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    4 diseases for OR6C1:    About MalaCards
    atrophic gastritis    gastritis    narcolepsy    neuronitis

    1 disease from the University of Copenhagen DISEASES database for OR6C1:
    Atrophic gastritis

    OR6C1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): OR6C1
    Human Genome Epidemiology (HuGE) Navigator: OR6C1 (1 document)

    Export disorders for OR6C1 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 OR6C1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with OR6C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    2. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    3. DEFOG: a practical scheme for deciphering families of genes. (PubMed id 12213199)1, 2 Fuchs T.... Shamir R. (Genomics 2002)
    4. 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)
    5. 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: 390321 HGNC: 8355 AceView: OR6C1 Ensembl:ENSG00000205330 euGenes: HUgn390321
    ECgene: OR6C1 Kegg: 390321 H-InvDB: OR6C1

    (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 OR6C1 Pharmacogenomics, SNPs, Pathways
    HORDE entry for OR6C1 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 OR6C1 gene:
    Search GeneIP for patents involving OR6C1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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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