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    OR1B1 olfactory receptor family 1 subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 347169, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OR1B1provided by HGNC
    Official Full Name
    olfactory receptor family 1 subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:8181
    See related
    Ensembl:ENSG00000280094 AllianceGenome:HGNC:8181
    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
    OR9-B; OR9-26
    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, Jun 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
    Orthologs
    all
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    Genomic context

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    See OR1B1 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122628125..122657627, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134825455..134854952, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (125390404..125419906, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902265 Neighboring gene olfactory receptor family 1 subfamily H member 1 pseudogene Neighboring gene olfactory receptor family 1 subfamily Q member 1 Neighboring gene MPRA-validated peak7331 silencer Neighboring gene olfactory receptor family 1 subfamily L member 1 Neighboring gene olfactory receptor family 1 subfamily L member 3

    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. Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity. Koyano S, et al. Hepatol Res, 2008 Jul. PMID 18328065
    2. A probabilistic classifier for olfactory receptor pseudogenes. Menashe I, et al. BMC Bioinformatics, 2006 Aug 29. PMID 16939646, Free PMC Article
    3. Personal receptor repertoires: olfaction as a model. Olender T, et al. BMC Genomics, 2012 Aug 21. PMID 22908908, Free PMC Article
    4. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    5. 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

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Common null variant, Arg192Stop, in a G-protein coupled receptor, olfactory receptor 1B1, associated with decreased serum cholinesterase activity.
    Submit: New GeneRIF Correction

    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 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
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 1B1
    Names
    olfactory receptor 9-B
    olfactory receptor OR9-26

    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_001004450.3 → NP_001004450.2  olfactory receptor 1B1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.
      Source sequence(s)
      AL162254
      UniProtKB/Swiss-Prot
      Q6IFN3, Q8NGR6
      UniProtKB/TrEMBL
      A0A9L9PY52
      Related
      ENSP00000485577.2, ENST00000623530.2
      Conserved Domains (1) summary
      cd15235
      Location:25 → 306
      7tmA_OR1A-like; olfactory receptor subfamily 1A and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001409693.1 → NP_001396622.1  olfactory receptor 1B1

      Status: VALIDATED

      Description
      Transcript Variant: This variant 2, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.
      Source sequence(s)
      AL162254
      UniProtKB/Swiss-Prot
      Q6IFN3, Q8NGR6
      UniProtKB/TrEMBL
      A0A9L9PY52
      Related
      ENSP00000516726.1, ENST00000707075.1

    RNA

    1. NR_178052.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant 1, coding but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because a frameshift in the N-terminus results in a premature stop codon.
      Source sequence(s)
      CP068269

    2. NR_178053.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, non-coding) uses the same exon combination as variant 2, coding but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because a frameshift in the N-terminus results in a premature stop codon.
      Source sequence(s)
      CP068269

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122628125..122657627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      134825455..134854952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NGR6.3 GenPept UniProtKB/Swiss-Prot:Q8NGR6

    Gene LinkOut

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

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