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

Gene ID: 4991, updated on 5-Mar-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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

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Location:
17p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3088484..3104422, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2976732..2992671, complement)
105.20220307 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. Human olfactory sensitivity for bourgeonal and male infertility: a preliminary investigation. Ottaviano G, et al. Eur Arch Otorhinolaryngol, 2013 Nov. PMID 23525651
  2. 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
  3. Overexpression, solubilization and purification of rat and human olfactory receptors. Nekrasova E, et al. Eur J Biochem, 1996 May 15. PMID 8665947
  4. 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
  5. Large-scale production and study of a synthetic G protein-coupled receptor: human olfactory receptor 17-4. Cook BL, et al. Proc Natl Acad Sci U S A, 2009 Jul 21. PMID 19581598, Free PMC Article

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)

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

  • 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_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
    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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