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    OR1D2 olfactory receptor family 1 subfamily D member 2 [ Homo sapiens (human) ]

    Gene ID: 4991, updated on 2-Nov-2024

    Summary

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    Official Symbol
    OR1D2provided by HGNC
    Official Full Name
    olfactory receptor family 1 subfamily D member 2provided by HGNC
    Primary source
    HGNC:HGNC:8183
    See related
    Ensembl:ENSG00000184166 MIM:164342; AllianceGenome:HGNC:8183
    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
    OLFR1; OR17-4
    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. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

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    See OR1D2 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3088484..3104422, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2976732..2992671, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2991778..3007716, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAP1 GTPase activating protein 2 Neighboring gene uncharacterized LOC101927911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2868522-2869022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2869023-2869523 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:2898072-2898248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2898498-2898998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2914073-2914574 Neighboring gene olfactory receptor family 1 subfamily D member 5 Neighboring gene olfactory receptor family 1 subfamily E member 3 (gene/pseudogene) Neighboring gene olfactory receptor family 1 subfamily G member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The OLFR1 gene encoding the HGMP07E putative olfactory receptor maps to the 17p13-->p12 region of the human genome and reveals an MspI restriction fragment length polymorphism. Schurmans S, et al. Cytogenet Cell Genet, 1993. PMID 8097991
    2. Human olfactory sensitivity for bourgeonal and male infertility: a preliminary investigation. Ottaviano G, et al. Eur Arch Otorhinolaryngol, 2013 Nov. PMID 23525651
    3. Overexpression, solubilization and purification of rat and human olfactory receptors. Nekrasova E, et al. Eur J Biochem, 1996 May 15. PMID 8665947
    4. Relationship between homo-oligomerization of a mammalian olfactory receptor and its activation state demonstrated by bioluminescence resonance energy transfer. Wade F, et al. J Biol Chem, 2011 Apr 29. PMID 21454689, Free PMC Article
    5. Novel G protein-coupled receptors: a gene family of putative human olfactory receptor sequences. Selbie LA, et al. Brain Res Mol Brain Res, 1992 Mar. PMID 1315913

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The present preliminary study seems to confirm the important role of OR1D2 both in nose and spermatozoa and may explain the idiopathic infertility of the study group.
      Title: Human olfactory sensitivity for bourgeonal and male infertility: a preliminary investigation.
    2. the homo-oligomerization status of the human OR1740 receptor and its involvement in receptor activation upon odorant ligand binding were addressed
      Title: Relationship between homo-oligomerization of a mammalian olfactory receptor and its activation state demonstrated by bioluminescence resonance energy transfer.
    3. results indicate that hOR17-4 functions in human sperm chemotaxis and may be a critical component of the fertilization process
      Title: Identification of a testicular odorant receptor mediating human sperm chemotaxis.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study link novel loci to endometriosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC119942, MGC119943

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables olfactory receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables olfactory receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in chemotaxis 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 sensory perception of smell TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    olfactory receptor 1D2
    Names
    olfactory receptor 17-4
    olfactory receptor OR17-6
    olfactory receptor-like protein HGMP07E

    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_001386088.1 → NP_001373017.1  olfactory receptor 1D2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC097370
      Consensus CDS
      CCDS11019.1
      UniProtKB/Swiss-Prot
      P34982, Q6IFL8, Q96RA4, Q9UM78
      UniProtKB/TrEMBL
      A0A126GVV4, A0A126GWN1, A0A126GWN6, A0A126GWN9, A0A126GWP7
      Related
      ENSP00000493077.1, ENST00000641064.1
      Conserved Domains (1) summary
      cd15918
      Location:25 → 293
      7tmA_OR1_7-like; olfactory receptor families 1, 7, and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_002548.3 → NP_002539.2  olfactory receptor 1D2

      See identical proteins and their annotated locations for NP_002539.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC097370
      Consensus CDS
      CCDS11019.1
      UniProtKB/Swiss-Prot
      P34982, Q6IFL8, Q96RA4, Q9UM78
      UniProtKB/TrEMBL
      A0A126GVV4, A0A126GWN1, A0A126GWN6, A0A126GWN9, A0A126GWP7
      Related
      ENSP00000493103.1, ENST00000641833.1
      Conserved Domains (1) summary
      cd15918
      Location:25 → 293
      7tmA_OR1_7-like; olfactory receptor families 1, 7, and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      3088484..3104422 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      2976732..2992671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34982.2 GenPept UniProtKB/Swiss-Prot:P34982

    Gene LinkOut

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