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 OR51I1 Gene

Aliases for OR51I1 Gene

  • Olfactory Receptor Family 51 Subfamily I Member 1 2 3 5
  • Odorant Receptor HOR5'Beta11 3 4
  • Olfactory Receptor OR11-39 3 4
  • Olfactory Receptor 51I1 3 4
  • Olfactory Receptor, Family 51, Subfamily I, Member 1 2
  • HOR5'Beta11 3
  • OR51I1 5

External Ids for OR51I1 Gene

Previous GeneCards Identifiers for OR51I1 Gene

  • GC11U990514
  • GC11M005427
  • GC11M005409
  • GC11M005400
  • GC11M005418

Summaries for OR51I1 Gene

Entrez Gene Summary for OR51I1 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 OR51I1 Gene

OR51I1 (Olfactory Receptor Family 51 Subfamily I Member 1) is a Protein Coding gene. Diseases associated with OR51I1 include Hypotonia-Cystinuria Syndrome. 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 OR51I2.

UniProtKB/Swiss-Prot Summary for OR51I1 Gene

Gene Wiki entry for OR51I1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR51I1 Gene

Genomics for OR51I1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR51I1 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
GH11J005379 Enhancer 0.2 FANTOM5 1.9 +61.5 61522 0 piR-48209-078 OR51V1 OR51T1 HBB OR51B5 OR51G1 OR56B1 OR52J3 OR51L1 OR52N4
GH11J005428 Enhancer 0.3 Ensembl 0.4 +12.7 12713 0.4 PKNOX1 OR51B5 HSALNG0082371 OR51K1P OR51Q1 OR51I1 HBE1 HBG2 lnc-HBE1-1 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 OR51I1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR51I1

Top Transcription factor binding sites by QIAGEN in the OR51I1 gene promoter:
  • c-Myc
  • C/EBPalpha
  • Evi-1
  • FOXO1
  • FOXO1a
  • HOXA9
  • Max1
  • p53
  • POU2F1
  • POU2F1a

Genomic Locations for OR51I1 Gene

Latest Assembly
chr11:5,440,570-5,441,514
(GRCh38/hg38)
Size:
945 bases
Orientation:
Minus strand

Previous Assembly
chr11:5,461,772-5,462,783
(GRCh37/hg19 by Entrez Gene)
Size:
1,012 bases
Orientation:
Minus strand

chr11:5,461,800-5,462,744
(GRCh37/hg19 by Ensembl)
Size:
945 bases
Orientation:
Minus strand

Genomic View for OR51I1 Gene

Genes around OR51I1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR51I1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR51I1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR51I1 Gene

Proteins for OR51I1 Gene

  • Protein details for OR51I1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H343-O51I1_HUMAN
    Recommended name:
    Olfactory receptor 51I1
    Protein Accession:
    Q9H343
    Secondary Accessions:
    • B9EKW2
    • Q6IF33

    Protein attributes for OR51I1 Gene

    Size:
    314 amino acids
    Molecular mass:
    35484 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR51I1 Gene

Post-translational modifications for OR51I1 Gene

No Post-translational modifications

Other Protein References for OR51I1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR51I1 Gene

Domains & Families for OR51I1 Gene

Gene Families for OR51I1 Gene

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

Protein Domains for OR51I1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR51I1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR11-39 (O51I1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H343

UniProtKB/Swiss-Prot:

O51I1_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 OR51I1: view

Function for OR51I1 Gene

Molecular function for OR51I1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR51I1 Gene

Gene Ontology (GO) - Molecular Function for OR51I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004984 olfactory receptor activity NAS 11121057
genes like me logo Genes that share ontologies with OR51I1: view

Phenotypes for OR51I1 Gene

genes like me logo Genes that share phenotypes with OR51I1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR51I1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR51I1 Gene

Localization for OR51I1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR51I1 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 OR51I1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR51I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 11121057
genes like me logo Genes that share ontologies with OR51I1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR51I1 Gene

Pathways & Interactions for OR51I1 Gene

genes like me logo Genes that share pathways with OR51I1: view

Pathways by source for OR51I1 Gene

Interacting Proteins for OR51I1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 23)
STRING Interaction Network
Selected Interacting proteins: ENSP00000369559 Q9H343-O51I1_HUMAN for OR51I1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for OR51I1 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 NAS 11121057
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 OR51I1: view

No data available for SIGNOR curated interactions for OR51I1 Gene

Drugs & Compounds for OR51I1 Gene

No Compound Related Data Available

Transcripts for OR51I1 Gene

mRNA/cDNA for OR51I1 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 OR51I1

Alternative Splicing Database (ASD) splice patterns (SP) for OR51I1 Gene

No ASD Table

Relevant External Links for OR51I1 Gene

GeneLoc Exon Structure for
OR51I1

Expression for OR51I1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR51I1 Gene

mRNA differential expression in normal tissues according to GTEx for OR51I1 Gene

This gene is overexpressed in Testis (x7.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR51I1

SOURCE GeneReport for Unigene cluster for OR51I1 Gene:

Hs.553732
genes like me logo Genes that share expression patterns with OR51I1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 OR51I1 Gene

Orthologs for OR51I1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR51I1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC466378 29
  • 99.15 (n)
OR51I1 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia OR51I1 29 30
  • 86.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Olr142 29
  • 85.2 (n)
Mouse
(Mus musculus)
Mammalia Or51i1 45 Olfr640 29 16 30
  • 83.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OR51I1 30
  • 83 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 60 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 56 (a)
OneToMany
Species where no ortholog for OR51I1 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)
  • 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 OR51I1 Gene

ENSEMBL:
Gene Tree for OR51I1 (if available)
TreeFam:
Gene Tree for OR51I1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR51I1: view image
Alliance of Genome Resources:
Additional Orthologs for OR51I1

Paralogs for OR51I1 Gene

(410) SIMAP similar genes for OR51I1 Gene using alignment to 1 proteins:

  • O51I1_HUMAN

Pseudogenes.org Pseudogenes for OR51I1 Gene

genes like me logo Genes that share paralogs with OR51I1: view

Variants for OR51I1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR51I1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11037445 -- p.Val164Leu
rs1498486 -- p.Ala252Ser
rs16930982 -- p.Arg124His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR51I1 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 OR51I1 Gene

Variant ID Type Subtype PubMed ID
dgv1042n100 CNV gain 25217958
esv2664205 CNV deletion 23128226
esv2759800 CNV loss 17122850
esv34391 CNV loss 17911159
esv3625225 CNV loss 21293372
nsv1039047 CNV gain 25217958
nsv1046068 CNV gain 25217958
nsv1048608 CNV gain 25217958
nsv832057 CNV loss 17160897

Variation tolerance for OR51I1 Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.97; 98.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR51I1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR51I1
Leiden Open Variation Database (LOVD)
OR51I1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR51I1 Gene

Disorders for OR51I1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR51I1 Gene - From: COP

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OR51I1

genes like me logo Genes that share disorders with OR51I1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR51I1 Gene

Publications for OR51I1 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. Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters. (PMID: 11121057) Bulger M … Hardison R (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4
  3. Genetic determinants of haemolysis in sickle cell anaemia. (PMID: 23406172) Milton JN … Steinberg MH (British journal of haematology 2013) 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. 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

Products for OR51I1 Gene

Sources for OR51I1 Gene