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    OR4D1 olfactory receptor family 4 subfamily D member 1 [ Homo sapiens (human) ]

    Gene ID: 26689, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OR4D1provided by HGNC
    Official Full Name
    olfactory receptor family 4 subfamily D member 1provided by HGNC
    Primary source
    HGNC:HGNC:8293
    See related
    Ensembl:ENSG00000141194 AllianceGenome:HGNC:8293
    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
    OR4D3; OR4D4P; TPCR16; OR17-23
    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
    all
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    Genomic context

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    See OR4D1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (58148384..58159585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (59016289..59027481)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56225745..56236946)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DYNLL2 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 5901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8760 Neighboring gene dynein light chain LC8-type 2 Neighboring gene Sharpr-MPRA regulatory region 5260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:56219338-56219838 Neighboring gene msh homeobox 2 pseudogene 1 Neighboring gene MPRA-validated peak2916 silencer Neighboring gene olfactory receptor family 4 subfamily D member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56261589-56262182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56277441-56278284 Neighboring gene eosinophil peroxidase

    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. Specific repertoire of olfactory receptor genes in the male germ cells of several mammalian species. Vanderhaeghen P, et al. Genomics, 1997 Feb 1. PMID 9119360
    2. Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons. Barnes IHA, et al. BMC Genomics, 2020 Mar 3. PMID 32126975, Free PMC Article
    3. DEFOG: a practical scheme for deciphering families of genes. Fuchs T, et al. Genomics, 2002 Sep. PMID 12213199
    4. 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
    5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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
    		  
    enables olfactory receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 sensory perception of smell NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 4D1
    Names
    olfactory receptor 4D3
    olfactory receptor OR17-23 pseudogene
    olfactory receptor TPCR16
    olfactory receptor, family 4, subfamily D, member 3
    olfactory receptor, family 4, subfamily D, member 4 pseudogene
    seven transmembrane helix receptor

    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_001386095.1 → NP_001373024.1  olfactory receptor 4D1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC005962
      Consensus CDS
      CCDS42365.1
      UniProtKB/Swiss-Prot
      B2RN14, Q15615, Q8NGB1, Q96R76
      UniProtKB/TrEMBL
      A0A126GW37
      Related
      ENSP00000365451.3, ENST00000268912.6
      Conserved Domains (1) summary
      cd15936
      Location:34 → 291
      7tmA_OR4D-like; olfactory receptor 4D and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_012374.2 → NP_036506.1  olfactory receptor 4D1

      See identical proteins and their annotated locations for NP_036506.1

      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)
      AC005962
      Consensus CDS
      CCDS42365.1
      UniProtKB/Swiss-Prot
      B2RN14, Q15615, Q8NGB1, Q96R76
      UniProtKB/TrEMBL
      A0A126GW37
      Related
      ENSP00000493234.1, ENST00000641449.1
      Conserved Domains (1) summary
      cd15936
      Location:34 → 291
      7tmA_OR4D-like; olfactory receptor 4D 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
      58148384..58159585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59016289..59027481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15615.3 GenPept UniProtKB/Swiss-Prot:Q15615

    Gene LinkOut

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

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