Human Gene OR6Q1 (uc010rjz.2)
  Description: Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.
RefSeq Summary (NM_001005186): 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]. Sequence Note: This gene is a segregating pseudogene. This RefSeq represents the protein encoded by the reference genome allele, which is predicted to be functional according to the Classifier for Olfactory Receptor Pseudogenes. This RefSeq was derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. CCDS Note: This olfactory receptor gene is a segregating pseudogene (PMID:22908908), where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele that is predicted to be non-functional. This CCDS is being retained because the Classifier for Olfactory Receptor Pseudogenes (CORP) predicts the reference genome allele to be functional.
Transcript (Including UTRs)
   Position: hg19 chr11:57,798,425-57,799,378 Size: 954 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr11:57,798,425-57,799,378 Size: 954 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesMicroarray Expression
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:57,798,425-57,799,378)mRNA (may differ from genome)Protein (317 aa)
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ReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OR6Q1_HUMAN
DESCRIPTION: RecName: Full=Olfactory receptor 6Q1; AltName: Full=Olfactory receptor OR11-226;
FUNCTION: Odorant receptor (Potential).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
POLYMORPHISM: A single nucleotide deletion at position Leu-229 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The deletion is more frequent in African-Americans than in non-Africans.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR6Q1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR000725 - Olfact_rcpt

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF13853 - Olfactory receptor

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on Q8NGQ2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004984 olfactory receptor activity

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007608 sensory perception of smell
GO:0050896 response to stimulus
GO:0050911 detection of chemical stimulus involved in sensory perception of smell

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC151147 - Homo sapiens olfactory receptor, family 6, subfamily Q, member 1, mRNA (cDNA clone MGC:168641 IMAGE:9021018), complete cds.
BC151146 - Homo sapiens olfactory receptor, family 6, subfamily Q, member 1, mRNA (cDNA clone MGC:168640 IMAGE:9021017), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04740 - Olfactory transduction

Reactome (by CSHL, EBI, and GO)

Protein Q8NGQ2 (Reactome details) participates in the following event(s):

R-HSA-381750 Olfactory Receptor - G Protein olfactory trimer complex formation
R-HSA-381753 Olfactory Signaling Pathway
R-HSA-418555 G alpha (s) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B9EKW1, NM_001005186, NP_001005186, OR6Q1_HUMAN, Q6IFH1, Q8NGQ2, Q96R34
UCSC ID: uc010rjz.2
RefSeq Accession: NM_001005186
Protein: Q8NGQ2 (aka OR6Q1_HUMAN or O6Q1_HUMAN)
CCDS: CCDS31541.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001005186.2
exon count: 1CDS single in 3' UTR: no RNA size: 954
ORF size: 954CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1650.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.