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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]
OR4K1 (Olfactory Receptor Family 4 Subfamily K Member 1) is a Protein Coding gene. Diseases associated with OR4K1 include Hereditary Breast Ovarian Cancer 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 transmembrane signaling receptor activity. An important paralog of this gene is OR4K15.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH14J020071 | Enhancer | 0.2 | FANTOM5 | 3 | +151.5 | 151505 | 0.2 | OR4K17 OR4K14 OR4L1 OR4Q3 OR11H4 OR11H6 OR4N5 OR4M1 OR4K5 OR4K1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IBA | -- |
GO:0004930 | G protein-coupled receptor activity | IEA | -- |
GO:0004984 | olfactory receptor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | Olfactory transduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | IBA | -- |
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 | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC473309 30 |
|
||
OR4K1 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | OR4K1 31 |
|
OneToOne | |
LOC100687258 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | OR4K1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Or4k1 46 Olfr728 30 17 31 |
|
OneToOne |
|
Rat (Rattus norvegicus) |
Mammalia | Olr1629 30 |
|
||
Cow (Bos Taurus) |
Mammalia | OR4K1 31 |
|
OneToOne | |
OR4K14 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12885778 | - | p.Arg89His | |||
rs2792146 | - | p.Arg304His | |||
rs3916626 | - | p.Arg138Gln |
Disorder | Aliases | PubMed IDs |
---|---|---|
hereditary breast ovarian cancer syndrome |
|
|