OR5AR1

Summary

OR5AR1 (olfactory receptor family 5 subfamily AR member 1, HGNC:15260) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5AR1 (Q8NGP9). Odorant receptor.

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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 219493 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_001004730

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15260
Approved symbol	OR5AR1
Name	olfactory receptor family 5 subfamily AR member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172459
Ensembl biotype	protein_coding
Entrez	219493

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624596

RefSeq mRNA: 1 — MANE Select: NM_001004730 NM_001004730

Canonical transcript exons

ENST00000624596 — 1 exons

Exon	Start	End
ENSE00003757047	56663686	56664618

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 39.23.

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	39.23	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
tonsil	UBERON:0002372	31.00	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
urinary bladder	UBERON:0001255	29.04	gold quality
liver	UBERON:0002107	28.65	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	26.81	gold quality
monocyte	CL:0000576	26.73	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.32	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	24.83	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.15	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.00

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5ar1	ENSMUSG00000075208
rattus_norvegicus	Or5ar1	ENSRNOG00000079508

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5AR1 — Q8NGP9 (reviewed: Q8NGP9)

Alternative names: Olfactory receptor OR11-209

All UniProt accessions (2): A0A126GVM6, Q8NGP9

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon in the gene coding for this protein at position Gln-19 is responsible for functional diversity thus producing a pseudogene.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004730* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGP9-F1	90.84	0.74

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 97–189

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 21 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, MARTIN_VIRAL_GPCR_SIGNALING_DN, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_COPPER_ION_BINDING, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, HBZ_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY

GO Biological Process (5): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception (GO:0050907), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (4): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), copper ion binding (GO:0005507), odorant binding (GO:0005549)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of chemical stimulus	2
transmembrane signaling receptor activity	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception	1
detection of chemical stimulus	1
detection of stimulus involved in sensory perception	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
transition metal ion binding	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

340 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5AR1	SLC22A24	Q8N4F4	641
OR5AR1	CCDC126	Q96EE4	571
OR5AR1	ASB17	Q8WXJ9	538
OR5AR1	MAGEB16	A2A368	533
OR5AR1	DPY19L3	Q6ZPD9	502
OR5AR1	GALNTL5	Q7Z4T8	465
OR5AR1	RAP1GDS1	P52306	443
OR5AR1	ENOX1	Q8TC92	429
OR5AR1	TBC1D4	O60343	421
OR5AR1	TAF1B	Q53T94	419
OR5AR1	ZNF99	A8MXY4	411
OR5AR1	ANO3	Q9BYT9	402
OR5AR1	TSPAN32	Q96QS1	400
OR5AR1	ZNF117	Q03924	380
OR5AR1	FAM187B	Q17R55	374

IntAct

0 interactions, top by confidence:

BioGRID (1): OR5AR1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NCV1, O95221, P0C7N1, P0C7N5, Q60881, Q60888, Q6IEU7, Q8NGA8, Q8NGB6, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD4, Q8NGD5, Q8NGE8, Q8NGF8, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGM9, Q8NGP8, Q8NGP9, Q8NGS9, Q8NGT0, Q8NH01, Q8NH10, Q8NH18, Q8NH21, Q8NH41, Q8NH42, Q8NH43, Q8NH49, Q8NH69, Q8NH85, Q8VEW5, Q8VF65, Q8VFD3

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

60 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

251 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56663795:TTA:T	donor_gain	0.9400
11:56663801:T:TA	donor_gain	0.8900
11:56663802:A:AA	donor_gain	0.8900
11:56663772:G:GA	donor_gain	0.8800
11:56663797:AAT:A	donor_gain	0.8700
11:56663794:GT:G	donor_gain	0.7600
11:56663796:T:A	donor_gain	0.7600
11:56664351:T:TA	acceptor_gain	0.7600
11:56664354:T:A	acceptor_gain	0.7200
11:56663798:A:G	donor_gain	0.7100
11:56663795:T:G	donor_gain	0.6700
11:56664357:A:AG	acceptor_gain	0.6700
11:56664358:A:G	acceptor_gain	0.6700
11:56663710:GTGAC:G	donor_gain	0.6500
11:56663711:TGACT:T	donor_gain	0.6500
11:56663712:GACTG:G	donor_gain	0.6500
11:56663713:ACTGA:A	donor_gain	0.6500
11:56663714:C:G	donor_gain	0.6400
11:56663878:A:AG	acceptor_gain	0.6000
11:56664409:G:A	acceptor_gain	0.6000
11:56663861:T:G	donor_gain	0.5900
11:56664222:C:CA	acceptor_gain	0.5800
11:56664364:A:AG	acceptor_gain	0.5800
11:56664365:G:GG	acceptor_gain	0.5800
11:56664269:G:GG	donor_gain	0.5600
11:56664448:GTCAT:G	acceptor_gain	0.5600
11:56664268:A:AG	donor_gain	0.5500
11:56663925:G:GT	donor_gain	0.5400
11:56663820:G:GT	donor_gain	0.5300
11:56664408:C:CA	acceptor_gain	0.5300

AlphaMissense

2064 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56663719:T:C	F12L	0.952
11:56663721:T:A	F12L	0.952
11:56663721:T:G	F12L	0.952
11:56664214:T:C	F177L	0.908
11:56664216:C:A	F177L	0.908
11:56664216:C:G	F177L	0.908
11:56663918:C:A	A78D	0.907
11:56663921:C:A	P79H	0.906
11:56664175:T:C	F164L	0.889
11:56664177:C:A	F164L	0.889
11:56664177:C:G	F164L	0.889
11:56663731:G:C	G16R	0.885
11:56664310:A:C	S209R	0.883
11:56664312:C:A	S209R	0.883
11:56664312:C:G	S209R	0.883
11:56663731:G:T	G16C	0.879
11:56663930:T:G	L82R	0.878
11:56663776:T:C	F31L	0.874
11:56663778:C:A	F31L	0.874
11:56663778:C:G	F31L	0.874
11:56663927:T:G	M81R	0.865
11:56663921:C:G	P79R	0.862
11:56663720:T:C	F12S	0.860
11:56663735:T:G	I17S	0.854
11:56663930:T:C	L82P	0.843
11:56663735:T:C	I17T	0.839
11:56663927:T:A	M81K	0.839
11:56664217:T:C	F178L	0.838
11:56664219:C:A	F178L	0.838
11:56664219:C:G	F178L	0.838

dbSNP variants (sampled 300 via entrez): RS1001776832 (11:56663546 T>C), RS1003447470 (11:56664708 C>T), RS1004205029 (11:56664934 C>T), RS1005175713 (11:56662875 G>A,C,T), RS1005880593 (11:56663933 C>T), RS1008014056 (11:56663865 T>C), RS1008954791 (11:56661737 C>T), RS1009018688 (11:56662371 T>C), RS1009049560 (11:56661899 T>C), RS1009641665 (11:56661956 T>A), RS1010504605 (11:56662330 C>T), RS1012370469 (11:56663790 C>T), RS1012426102 (11:56664003 T>A,C), RS1012988058 (11:56664761 T>G), RS1014043736 (11:56662257 C>A,G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000080_3	Hemostatic factors and hematological phenotypes	7.000000e-08
GCST005580_154	Intraocular pressure	7.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
cupric oxide	decreases phosphorylation	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.