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 OR4B1 Gene

Aliases for OR4B1 Gene

  • Olfactory Receptor Family 4 Subfamily B Member 1 2 3 5
  • OST208 2 3 4
  • Olfactory Receptor OR11-106 3 4
  • Olfactory Receptor 4B1 3 4
  • Olfactory Receptor, Family 4, Subfamily B, Member 1 2
  • OR11-106 3
  • OR4B1 5

External Ids for OR4B1 Gene

Previous GeneCards Identifiers for OR4B1 Gene

  • GC11U990238
  • GC11P048194

Summaries for OR4B1 Gene

Entrez Gene Summary for OR4B1 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 OR4B1 Gene

OR4B1 (Olfactory Receptor Family 4 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with OR4B1 include Focal Hand Dystonia. 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 transmembrane signaling receptor activity. An important paralog of this gene is OR4S2.

UniProtKB/Swiss-Prot Summary for OR4B1 Gene

Gene Wiki entry for OR4B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OR4B1 Gene

Genomics for OR4B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OR4B1 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
GH11J048103 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.2 -111.1 -111076 4.3 BCLAF1 ATF2 YY1 BCL11A FEZF1 RXRA IRF4 EBF1 ZNF843 PRDM6 NUP160 OR4S1 PTPRJ-AS1 PTPRJ OR4B1 MADD OR4X2 OR4C3 MIR3161 HSALNG0084112
GH11J048266 Enhancer 0.2 FANTOM5 32.1 +50.0 49976 0 OR4B1 OR4S1 OR4X2 OR4C3 OR4X1 piR-53119-001
GH11J047869 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 6.2 -347.0 -347006 1 FEZF1 EP300 TBP PRDM6 POLR2A PKNOX1 ZNF335 OR4C3 OR4B1 OR4S1 PTPRJ OR4X2 piR-60932-004 NUP160
GH11J048169 Enhancer 0.8 FANTOM5 Ensembl ENCODE 5.2 -46.1 -46109 3.4 PRDM10 EGR2 RUNX3 MEF2D ZFHX2 EGR1 HSALNG0084113 ACP2 OR4S1 OR4C3 OR4X2 OR4B1 AGBL2 OR4X1 FJ601684-061 PTPRJ
GH11J047912 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 1.9 -298.0 -297978 13.2 MYC NCOR1 IKZF1 ZNF600 JUND ZNF592 CEBPA BRCA1 NFIC CEBPB RF00017-831 NUP160 PTPRJ FNBP4 C1QTNF4 ENSG00000270060 PTPRJ-AS1 DDB2 ENSG00000200090 MYBPC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OR4B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OR4B1

Top Transcription factor binding sites by QIAGEN in the OR4B1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • Chx10
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB
  • POU6F1 (c2)
  • RSRFC4

Genomic Locations for OR4B1 Gene

Latest Assembly
chr11:48,216,810-48,217,739
(GRCh38/hg38)
Size:
930 bases
Orientation:
Plus strand

Previous Assembly
chr11:48,238,362-48,239,291
(GRCh37/hg19 by Entrez Gene)
Size:
930 bases
Orientation:
Plus strand

chr11:48,238,344-48,239,314
(GRCh37/hg19 by Ensembl)
Size:
971 bases
Orientation:
Plus strand

Genomic View for OR4B1 Gene

Genes around OR4B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OR4B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OR4B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OR4B1 Gene

Proteins for OR4B1 Gene

  • Protein details for OR4B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NGF8-OR4B1_HUMAN
    Recommended name:
    Olfactory receptor 4B1
    Protein Accession:
    Q8NGF8
    Secondary Accessions:
    • Q6IF75
    • Q96R64

    Protein attributes for OR4B1 Gene

    Size:
    309 amino acids
    Molecular mass:
    34456 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OR4B1 Gene

Post-translational modifications for OR4B1 Gene

  • Glycosylation at Asn6

Other Protein References for OR4B1 Gene

ENSEMBL proteins:
REFSEQ proteins:
HORDE protein sequence:

No data available for DME Specific Peptides for OR4B1 Gene

Domains & Families for OR4B1 Gene

Gene Families for OR4B1 Gene

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

Protein Domains for OR4B1 Gene

InterPro:
Blocks:
  • Olfactory receptor signature

Suggested Antigen Peptide Sequences for OR4B1 Gene

GenScript: Design optimal peptide antigens:
  • Olfactory receptor OR11-106 (OR4B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NGF8

UniProtKB/Swiss-Prot:

OR4B1_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 OR4B1: view

Function for OR4B1 Gene

Molecular function for OR4B1 Gene

UniProtKB/Swiss-Prot Function:
Odorant receptor.

Phenotypes From GWAS Catalog for OR4B1 Gene

Gene Ontology (GO) - Molecular Function for OR4B1 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 OR4B1: view
genes like me logo Genes that share phenotypes with OR4B1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OR4B1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OR4B1 Gene

Localization for OR4B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OR4B1 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 OR4B1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for OR4B1 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 OR4B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OR4B1 Gene

Pathways & Interactions for OR4B1 Gene

genes like me logo Genes that share pathways with OR4B1: view

Pathways by source for OR4B1 Gene

Interacting Proteins for OR4B1 Gene

Gene Ontology (GO) - Biological Process for OR4B1 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 OR4B1: view

No data available for SIGNOR curated interactions for OR4B1 Gene

Drugs & Compounds for OR4B1 Gene

No Compound Related Data Available

Transcripts for OR4B1 Gene

mRNA/cDNA for OR4B1 Gene

1 REFSEQ mRNAs :
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 OR4B1

Alternative Splicing Database (ASD) splice patterns (SP) for OR4B1 Gene

No ASD Table

Relevant External Links for OR4B1 Gene

GeneLoc Exon Structure for
OR4B1

Expression for OR4B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OR4B1 Gene

Protein differential expression in normal tissues from HIPED for OR4B1 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OR4B1 Gene



Protein tissue co-expression partners for OR4B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OR4B1

SOURCE GeneReport for Unigene cluster for OR4B1 Gene:

Hs.553566
genes like me logo Genes that share expression patterns with OR4B1: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OR4B1 Gene

Orthologs for OR4B1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for OR4B1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC466510 29
  • 98.81 (n)
OR4B1 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia OR08C02 29 30
  • 86.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 85 (a)
OneToMany
LOC532501 29
  • 84.36 (n)
-- 30
  • 84 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Olr737 29
  • 81.91 (n)
Mouse
(Mus musculus)
Mammalia Or4b1d 45 Olfr32 29 16 30
  • 81.58 (n)
OneToMany
Or4b1b 45 Olfr1272 30
  • 81 (a)
OneToMany
Or4b12 45 Olfr1271 30
  • 79 (a)
OneToMany
Or4b13 45 Olfr142 30
  • 79 (a)
OneToMany
Or4b1 45 Olfr1270
  • chr2:90,149,093-90,150,004
Or4b1c 45 Olfr1273
  • chr2:90,295,966-90,296,859
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 78 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia OR4B1 30
  • 73 (a)
OneToOne
Species where no ortholog for OR4B1 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 OR4B1 Gene

ENSEMBL:
Gene Tree for OR4B1 (if available)
TreeFam:
Gene Tree for OR4B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OR4B1: view image
Alliance of Genome Resources:
Additional Orthologs for OR4B1

Paralogs for OR4B1 Gene

(453) SIMAP similar genes for OR4B1 Gene using alignment to 1 proteins:

  • OR4B1_HUMAN

Pseudogenes.org Pseudogenes for OR4B1 Gene

genes like me logo Genes that share paralogs with OR4B1: view

Variants for OR4B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OR4B1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11606506 -- p.Cys63Tyr
rs12292056 -- p.Thr237Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OR4B1 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 OR4B1 Gene

Variant ID Type Subtype PubMed ID
dgv1111n100 CNV gain 25217958
dgv1112n100 CNV gain 25217958
dgv198e214 CNV gain 21293372
esv3891986 CNV gain 25118596
nsv1041394 CNV gain 25217958
nsv428253 CNV loss 18775914
nsv467871 CNV gain 19166990
nsv467873 CNV loss 19166990
nsv469953 CNV loss 18288195
nsv554211 CNV gain 21841781
nsv554212 CNV loss 21841781

Variation tolerance for OR4B1 Gene

Residual Variation Intolerance Score: 84.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.49; 77.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OR4B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OR4B1
Leiden Open Variation Database (LOVD)
OR4B1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OR4B1 Gene

Disorders for OR4B1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OR4B1 Gene - From: COP

Disorder Aliases PubMed IDs
focal hand dystonia
  • organic writer's cramp
- elite association - COSMIC cancer census association via MalaCards
Search OR4B1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OR4B1

genes like me logo Genes that share disorders with OR4B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OR4B1 Gene

Publications for OR4B1 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. DEFOG: a practical scheme for deciphering families of genes. (PMID: 12213199) Fuchs T … Shamir R (Genomics 2002) 3 4
  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

Products for OR4B1 Gene

Sources for OR4B1 Gene