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

Gene ID: 26689, updated on 27-Nov-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
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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

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