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    OR5H6 olfactory receptor family 5 subfamily H member 6 [ Homo sapiens (human) ]

    Gene ID: 79295, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OR5H6provided by HGNC
    Official Full Name
    olfactory receptor family 5 subfamily H member 6provided by HGNC
    Primary source
    HGNC:HGNC:14767
    See related
    Ensembl:ENSG00000230301 AllianceGenome:HGNC:14767
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OR3-11
    Summary
    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. 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]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See OR5H6 in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (98264244..98265356)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (100967976..100969088)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (97983088..97984200)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929320 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97960859-97961554 Neighboring gene olfactory receptor family 5 subfamily H member 7 pseudogene Neighboring gene uncharacterized LOC105373999 Neighboring gene olfactory receptor family 5 subfamily H member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:98010491-98010992 Neighboring gene olfactory receptor family 5 subfamily H member 8 (gene/pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A probabilistic classifier for olfactory receptor pseudogenes. Menashe I, et al. BMC Bioinformatics, 2006 Aug 29. PMID 16939646, Free PMC Article
    2. Personal receptor repertoires: olfaction as a model. Olender T, et al. BMC Genomics, 2012 Aug 21. PMID 22908908, Free PMC Article
    3. The human olfactory receptor gene family. Malnic B, et al. Proc Natl Acad Sci U S A, 2004 Feb 24. PMID 14983052, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables odorant binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables olfactory receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of chemical stimulus involved in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 5H6
    Names
    olfactory receptor OR3-11

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001005479.2 → NP_001005479.2  olfactory receptor 5H6

      Status: VALIDATED

      Source sequence(s)
      BC137523
      Consensus CDS
      CCDS33800.2
      UniProtKB/Swiss-Prot
      Q6IF88, Q8NGV6
      UniProtKB/TrEMBL
      A0A087WX40, A0A126GW86
      Related
      ENSP00000480705.3, ENST00000615035.3
      Conserved Domains (2) summary
      cd14964
      Location:27 → 51
      7tm_GPCRs; TM helix 1 [structural motif]
      cl28897
      Location:25 → 303
      7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      98264244..98265356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      100967976..100969088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NGV6.2 GenPept UniProtKB/Swiss-Prot:Q8NGV6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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