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OR1D4 olfactory receptor family 1 subfamily D member 4 [ Homo sapiens (human) ]

Gene ID: 653166, updated on 23-Nov-2023

Summary

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Official Symbol
OR1D4provided by HGNC
Official Full Name
olfactory receptor family 1 subfamily D member 4provided by HGNC
Primary source
HGNC:HGNC:8185
See related
Ensembl:ENSG00000255095 AllianceGenome:HGNC:8185
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
OR17-30
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. 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, Jan 2017]
Annotation information
Annotation category: suggests misassembly
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
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Genomic context

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Location:
17p13.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3240676..3241614)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3128907..3129845)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3143970..3144908)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily A member 2 Neighboring gene olfactory receptor family 1 subfamily A member 1 Neighboring gene olfactory receptor family 1 subfamily D member 3 pseudogene Neighboring gene olfactory receptor family 3 subfamily A member 2 Neighboring gene olfactory receptor family 3 subfamily A 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. Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. Ben-Arie N, et al. Hum Mol Genet, 1994 Feb. PMID 8004088
  2. Sequence, structure, and evolution of a complete human olfactory receptor gene cluster. Glusman G, et al. Genomics, 2000 Jan 15. PMID 10673334
  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. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) citations in PubMed

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

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

  • MGC125396, MGC199013

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 sensory perception of chemical stimulus TAS
Traceable Author Statement
more info
 PubMed 
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 1D4
Names
olfactory receptor 17-30
olfactory receptor OR17-1
olfactory receptor pseudogene
olfactory receptor, family 1, subfamily D, member 4 pseudogene

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_003552.3 → NP_003543.3  olfactory receptor 1D4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the functional allele encoding the full-length protein.
    Source sequence(s)
    AC090282, AF087922
    UniProtKB/TrEMBL
    A0A126GWT7
    Conserved Domains (2) summary
    cd14964
    Location:27 → 51
    7tm_GPCRs; TM helix 1 [structural motif]
    cl28897
    Location:25 → 293
    7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RNA

  1. NR_145519.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1, noncoding) represents the reference genome allele, which does not encode a full-length protein and is predicted to be non-functional.
    Source sequence(s)
    AC090282
    Related
    ENST00000525719.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    3240676..3241614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3128907..3129845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_005839.2: Suppressed sequence

    Description
    NG_005839.2: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.

  2. NG_026207.1: Suppressed sequence

    Description
    NG_026207.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P47884.3 GenPept UniProtKB/Swiss-Prot:P47884

Gene LinkOut

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Chemical Information
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Research Materials
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