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 OR52L1 Gene

Aliases for OR52L1 Gene

  • Olfactory Receptor Family 52 Subfamily L Member 1 2 3 5
  • Olfactory Receptor OR11-50 3 4
  • Olfactory Receptor 52L1 3 4
  • Olfactory Receptor Family 52 Subfamily L Member 1 (Gene/Pseudogene) 2
  • Olfactory Receptor, Family 52, Subfamily L, Member 1 2
  • OR11-50 3
  • OR52L1 5

External Ids for OR52L1 Gene

Previous GeneCards Identifiers for OR52L1 Gene

  • GC11U990301
  • GC11M005972
  • GC11M005963

Summaries for OR52L1 Gene

Entrez Gene Summary for OR52L1 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 OR52L1 Gene

OR52L1 (Olfactory Receptor Family 52 Subfamily L Member 1) is a Protein Coding gene. Diseases associated with OR52L1 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 OR52R1.

UniProtKB/Swiss-Prot Summary for OR52L1 Gene

Gene Wiki entry for OR52L1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR52L1 Gene

Genomics for OR52L1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR52L1 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
GH11J006020 Enhancer 0.5 Ensembl 9.6 -36.3 -36285 0.7 ZNF654 CTCF REST TRIM22 RAD21 SMC3 XRCC3 ARID2 PRDM1 FHIP1B RRP8 ENSG00000254641 DNHD1 CAVIN3 OR52L1 RF00001-048 RNA5SP329 OR56A1 OR56A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR52L1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR52L1

Top Transcription factor binding sites by QIAGEN in the OR52L1 gene promoter:
  • AML1a
  • FOXD1
  • GATA-1
  • Ik-3
  • LCR-F1
  • Lmo2
  • MRF-2
  • Pax-6
  • USF-1
  • USF1

Genomic Locations for OR52L1 Gene

Latest Assembly
chr11:5,985,892-5,986,985
(GRCh38/hg38)
Size:
1,094 bases
Orientation:
Minus strand

Previous Assembly
chr11:6,007,122-6,008,215
(GRCh37/hg19 by Entrez Gene)
Size:
1,094 bases
Orientation:
Minus strand

chr11:6,007,122-6,008,215
(GRCh37/hg19 by Ensembl)
Size:
1,094 bases
Orientation:
Minus strand

Genomic View for OR52L1 Gene

Genes around OR52L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR52L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR52L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR52L1 Gene

Proteins for OR52L1 Gene

  • Protein details for OR52L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NGH7-O52L1_HUMAN
    Recommended name:
    Olfactory receptor 52L1
    Protein Accession:
    Q8NGH7
    Secondary Accessions:
    • B2RPA6
    • Q6IFK9

    Protein attributes for OR52L1 Gene

    Size:
    329 amino acids
    Molecular mass:
    36221 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR52L1 Gene

Post-translational modifications for OR52L1 Gene

  • Glycosylation at Asn20

Other Protein References for OR52L1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR52L1 Gene

Domains & Families for OR52L1 Gene

Gene Families for OR52L1 Gene

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

Protein Domains for OR52L1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR52L1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR11-50 (O52L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NGH7

UniProtKB/Swiss-Prot:

O52L1_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 OR52L1: view

Function for OR52L1 Gene

Molecular function for OR52L1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR52L1 Gene

Gene Ontology (GO) - Molecular Function for OR52L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity IEA --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with OR52L1: view
genes like me logo Genes that share phenotypes with OR52L1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR52L1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR52L1 Gene

Localization for OR52L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR52L1 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 OR52L1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR52L1 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 OR52L1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR52L1 Gene

Pathways & Interactions for OR52L1 Gene

genes like me logo Genes that share pathways with OR52L1: view

Pathways by source for OR52L1 Gene

Gene Ontology (GO) - Biological Process for OR52L1 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 OR52L1: view

No data available for SIGNOR curated interactions for OR52L1 Gene

Drugs & Compounds for OR52L1 Gene

No Compound Related Data Available

Transcripts for OR52L1 Gene

mRNA/cDNA for OR52L1 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 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 OR52L1

Alternative Splicing Database (ASD) splice patterns (SP) for OR52L1 Gene

No ASD Table

Relevant External Links for OR52L1 Gene

GeneLoc Exon Structure for
OR52L1

Expression for OR52L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR52L1 Gene

mRNA differential expression in normal tissues according to GTEx for OR52L1 Gene

This gene is overexpressed in Testis (x14.5) and Whole Blood (x9.4).

Protein differential expression in normal tissues from HIPED for OR52L1 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OR52L1 Gene



Protein tissue co-expression partners for OR52L1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR52L1

SOURCE GeneReport for Unigene cluster for OR52L1 Gene:

Hs.553703
genes like me logo Genes that share expression patterns with OR52L1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR52L1 Gene

Orthologs for OR52L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OR52L1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OR52L1 29 30
  • 97.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC485325 29
  • 86.14 (n)
-- 30
  • 85 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia LOC100848074 29
  • 86.07 (n)
-- 30
  • 85 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Olr196 29
  • 84.35 (n)
Mouse
(Mus musculus)
Mammalia Or52l1 45 Olfr685 29 16 30
  • 83.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OR52L1 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 50 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 45 (a)
OneToMany
Species where no ortholog for OR52L1 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)
  • 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)
  • 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 OR52L1 Gene

ENSEMBL:
Gene Tree for OR52L1 (if available)
TreeFam:
Gene Tree for OR52L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR52L1: view image
Alliance of Genome Resources:
Additional Orthologs for OR52L1

Paralogs for OR52L1 Gene

(455) SIMAP similar genes for OR52L1 Gene using alignment to 1 proteins:

  • O52L1_HUMAN

Pseudogenes.org Pseudogenes for OR52L1 Gene

genes like me logo Genes that share paralogs with OR52L1: view

Variants for OR52L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR52L1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs4237768 -- p.Trp297Arg
rs4354673 -- p.Lys183Thr
rs4436524 -- p.Cys161Arg
rs4436525 -- p.Cys140Arg
rs4501959 -- p.Asp88Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR52L1 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 OR52L1 Gene

Variant ID Type Subtype PubMed ID
dgv1054n100 CNV gain 25217958
esv2759801 CNV gain+loss 17122850
nsv1046068 CNV gain 25217958
nsv1053414 CNV gain 25217958
nsv553241 CNV gain 21841781
nsv553277 CNV gain 21841781
nsv975145 CNV duplication 23825009

Variation tolerance for OR52L1 Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.65; 93.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR52L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR52L1
Leiden Open Variation Database (LOVD)
OR52L1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR52L1 Gene

Disorders for OR52L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR52L1 Gene - From: COP

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

Additional Disease Information for OR52L1

genes like me logo Genes that share disorders with OR52L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR52L1 Gene

Publications for OR52L1 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. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PMID: 17903293) Benjamin EJ … Vasan RS (BMC medical genetics 2007) 40

Products for OR52L1 Gene

Sources for OR52L1 Gene