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 rec... See more...

Aliases for OR52H1 Gene

Aliases for OR52H1 Gene

  • Olfactory Receptor Family 52 Subfamily H Member 1 2 3 5
  • Olfactory Receptor OR11-45 3 4
  • Olfactory Receptor 52H1 3 4
  • Olfactory Receptor Family 52 Subfamily H Member 1 (Gene/Pseudogene) 2
  • Olfactory Receptor, Family 52, Subfamily H, Member 1 2
  • Olfactory Receptor OR11-41 Pseudogene 3
  • OR11-41 3
  • OR11-45 3
  • OR52H1 5

External Ids for OR52H1 Gene

Previous GeneCards Identifiers for OR52H1 Gene

  • GC11U990496
  • GC11M005531
  • GC11M005522
  • GC11M005526
  • GC11M005534
  • GC11M005555
  • GC11M005559
  • GC11M005563
  • GC11M005566
  • GC11M005570
  • GC11M005577
  • GC11M005582
  • GC11M005644
  • GC11M005652
  • GC11M005655
  • GC11M005670
  • GC11M005586
  • GC11M005599
  • GC11M005606
  • GC11M005613
  • GC11M005620
  • GC11M005627
  • GC11M005632
  • GC11M005636
  • GC11M005681
  • GC11M005701

Summaries for OR52H1 Gene

Entrez Gene Summary for OR52H1 Gene

  • 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]

GeneCards Summary for OR52H1 Gene

OR52H1 (Olfactory Receptor Family 52 Subfamily H Member 1) is a Protein Coding gene. Diseases associated with OR52H1 include Pseudobulbar Palsy. Among its related pathways are Signaling by GPCR and Olfactory transduction. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and olfactory receptor activity. An important paralog of this gene is OR52B2.

UniProtKB/Swiss-Prot Summary for OR52H1 Gene

Gene Wiki entry for OR52H1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR52H1 Gene

Genomics for OR52H1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR52H1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J005595 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10 -48.6 -48616 3.3 NCOR1 IKZF1 NFIC BHLHE40 MBD2 MNT ARNT TAF9B NBN TAL1 TRIM6 TRIM6-TRIM34 OR52H1 piR-34862 TRIM34 lnc-OR52H1-1 ENSG00000239920 TRIM5
GH11J005546 Enhancer 0.2 FANTOM5 5 +2.3 2294 0.1 OR56A1 OR56A3 OR51Q1 OR52E8 OR52N1 OR56A4 OR52N4 OR52E2 OR52E4 OR52A1
GH11J005550 Enhancer 0.7 Ensembl ENCODE 0.7 -2.4 -2361 1.4 JUND BHLHE40 DPF2 ARID1B SMARCE1 ATF3 FOS MTA2 SMARCA4 OR52H2P lnc-OR52H1-2 HBE1 HBG2 OR51B5 TRIM6 OR52D1 OR51I2 OLFM5P UBQLNL
GH11J005565 Enhancer 0.6 Ensembl 0.4 -15.9 -15861 0.4 MYC ZNF592 BHLHE40 ZNF316 RAD51 EP400 ATF4 L3MBTL2 CEBPB ATF3 TRIM6 OR52D1 OR52E4 OR51I2 OR52T1P HSALNG0082372 OR52B5P OR52B6 OR52H1 ENSG00000239920
GH11J005564 Enhancer 0.5 Ensembl 0.4 -16.4 -16361 0.2 GABPA ZNF316 SPI1 EP400 CEBPB GABPB1 CEBPG TRIM6 OR52D1 OR52E4 OR51I2 OR52T1P HSALNG0082372 OR52B5P OR52B6 OR52H1 ENSG00000239920
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR52H1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR52H1

Top Transcription factor binding sites by QIAGEN in the OR52H1 gene promoter:
  • AP-1
  • C/EBPalpha
  • Cart-1
  • LCR-F1
  • p53
  • POU2F1
  • POU2F1a
  • Sox5
  • Sox9
  • STAT5A

Genomic Locations for OR52H1 Gene

Latest Assembly
chr11:5,544,489-5,548,540
(GRCh38/hg38)
Size:
4,052 bases
Orientation:
Minus strand

Previous Assembly
chr11:5,565,791-5,569,769
(GRCh37/hg19 by Entrez Gene)
Size:
3,979 bases
Orientation:
Minus strand

chr11:5,565,719-5,566,779
(GRCh37/hg19 by Ensembl)
Size:
1,061 bases
Orientation:
Minus strand

Genomic View for OR52H1 Gene

Genes around OR52H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR52H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR52H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR52H1 Gene

Proteins for OR52H1 Gene

  • Protein details for OR52H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NGJ2-O52H1_HUMAN
    Recommended name:
    Olfactory receptor 52H1
    Protein Accession:
    Q8NGJ2
    Secondary Accessions:
    • B9EH26
    • Q6IF79

    Protein attributes for OR52H1 Gene

    Size:
    320 amino acids
    Molecular mass:
    35592 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR52H1 Gene

Post-translational modifications for OR52H1 Gene

  • Glycosylation at Asn11 and Asn275
  • Modification sites at PhosphoSitePlus

Other Protein References for OR52H1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR52H1 Gene

Domains & Families for OR52H1 Gene

Gene Families for OR52H1 Gene

HGNC:
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for OR52H1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR52H1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR11-45 (O52H1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NGJ2

UniProtKB/Swiss-Prot:

O52H1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with OR52H1: view

Function for OR52H1 Gene

Molecular function for OR52H1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR52H1 Gene

Gene Ontology (GO) - Molecular Function for OR52H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IEA --
genes like me logo Genes that share ontologies with OR52H1: view
genes like me logo Genes that share phenotypes with OR52H1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52H1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR52H1 Gene

Localization for OR52H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR52H1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OR52H1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR52H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with OR52H1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR52H1 Gene

Pathways & Interactions for OR52H1 Gene

genes like me logo Genes that share pathways with OR52H1: view

Pathways by source for OR52H1 Gene

Interacting Proteins for OR52H1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 23)
STRING Interaction Network
Selected Interacting proteins: ENSP00000326259 Q8NGJ2-O52H1_HUMAN for OR52H1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for OR52H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007608 sensory perception of smell IEA --
GO:0050896 response to stimulus IEA --
GO:0050911 detection of chemical stimulus involved in sensory perception of smell IEA --
genes like me logo Genes that share ontologies with OR52H1: view

No data available for SIGNOR curated interactions for OR52H1 Gene

Drugs & Compounds for OR52H1 Gene

No Compound Related Data Available

Transcripts for OR52H1 Gene

mRNA/cDNA for OR52H1 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52H1

Alternative Splicing Database (ASD) splice patterns (SP) for OR52H1 Gene

No ASD Table

Relevant External Links for OR52H1 Gene

GeneLoc Exon Structure for
OR52H1

Expression for OR52H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR52H1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR52H1

SOURCE GeneReport for Unigene cluster for OR52H1 Gene:

Hs.554540
genes like me logo Genes that share expression patterns with OR52H1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR52H1 Gene

Orthologs for OR52H1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR52H1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OR52H1 29 30
  • 97.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC515619 29
  • 90.11 (n)
-- 30
  • 89 (a)
OneToMany
-- 30
  • 88 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 89 (a)
OneToMany
LOC100684706 29
  • 88.15 (n)
-- 30
  • 88 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Or52h1 45 Olfr648 29 16 30
  • 86.56 (n)
OneToOne
Or52h7 45 Olfr652
  • chr7:104,564,223-104,565,176
Or52h9 45 Olfr651
  • chr7:104,552,921-104,553,859
Rat
(Rattus norvegicus)
Mammalia Olr149 29
  • 86.02 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 80 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
Species where no ortholog for OR52H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for OR52H1 Gene

ENSEMBL:
Gene Tree for OR52H1 (if available)
TreeFam:
Gene Tree for OR52H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR52H1: view image
Alliance of Genome Resources:
Additional Orthologs for OR52H1

Paralogs for OR52H1 Gene

(410) SIMAP similar genes for OR52H1 Gene using alignment to 1 proteins:

  • O52H1_HUMAN

Pseudogenes.org Pseudogenes for OR52H1 Gene

genes like me logo Genes that share paralogs with OR52H1: view

Variants for OR52H1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR52H1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs10769054 -- p.Ala89Thr
rs1566275 -- p.His130Arg
rs1995157 -- p.Gly235Cys
rs1995158 -- p.Cys242Arg
rs2254076 -- p.Val47Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR52H1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OR52H1 Gene

Variant ID Type Subtype PubMed ID
esv3625230 CNV loss 21293372
esv3625235 CNV loss 21293372
esv3625236 CNV loss 21293372
esv3891919 CNV loss 25118596
nsv1046068 CNV gain 25217958
nsv1048608 CNV gain 25217958
nsv510997 OTHER complex 20534489
nsv553241 CNV gain 21841781
nsv832057 CNV loss 17160897

Variation tolerance for OR52H1 Gene

Residual Variation Intolerance Score: 95.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.44; 98.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR52H1 Gene

Human Gene Mutation Database (HGMD)
OR52H1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR52H1
Leiden Open Variation Database (LOVD)
OR52H1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR52H1 Gene

Disorders for OR52H1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR52H1 Gene - From: COP

Disorder Aliases PubMed IDs
pseudobulbar palsy
  • pseudobulbar paralysis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR52H1

genes like me logo Genes that share disorders with OR52H1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR52H1 Gene

Publications for OR52H1 Gene

  1. The human olfactory receptor gene family. (PMID: 14983052) Malnic B … Buck LB (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for OR52H1 Gene

Sources for OR52H1 Gene