OR52R1

Summary

OR52R1 (olfactory receptor family 52 subfamily R member 1, HGNC:15235) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52R1 (Q8NGF1). 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 119695 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• MANE Select transcript: NM_001005177

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15235
Approved symbol	OR52R1
Name	olfactory receptor family 52 subfamily R member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279270
Ensembl biotype	protein_coding
Entrez	119695

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624978

RefSeq mRNA: 1 — MANE Select: NM_001005177 NM_001005177

Canonical transcript exons

ENST00000624978 — 1 exons

Exon	Start	End
ENSE00003790717	4803433	4804380

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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
sural nerve	UBERON:0015488	30.93	gold quality
right uterine tube	UBERON:0001302	30.79	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.40	gold quality
liver	UBERON:0002107	28.31	gold quality
monocyte	CL:0000576	28.29	gold quality
leukocyte	CL:0000738	28.23	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
prostate gland	UBERON:0002367	27.08	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.96	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.15	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
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.99	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52r1	ENSMUSG00000062142
mus_musculus	Or52r1c	ENSMUSG00000073959
mus_musculus	Or52r1b	ENSMUSG00000073961
rattus_norvegicus	Or52r1c	ENSRNOG00000015689
rattus_norvegicus	Or52r1	ENSRNOG00000075970

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR56B4 (ENSG00000180919), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409)

Protein

Protein identifiers

Olfactory receptor 52R1 — Q8NGF1 (reviewed: Q8NGF1)

Alternative names: Olfactory receptor OR11-22

All UniProt accessions (1): Q8NGF1

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

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

RefSeq proteins (1): NP_001005177* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGF1-F1	85.55	0.38

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): 100–192

Glycosylation sites (1): 7

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 16 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr11p15

GO Biological Process (5): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), nervous system process (GO:0050877), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

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
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 of chemical stimulus	1
system process	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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52R1	IFTAP	Q86VG3	582
OR52R1	PCDHGA4	Q9Y5G9	431
OR52R1	POPDC3	Q9HBV1	396
OR52R1	IP6K3	Q96PC2	348
OR52R1	MTCH1	Q9NZJ7	338
OR52R1	TPK1	Q9H3S4	337
OR52R1	GPAA1	O43292	324
OR52R1	PLCH2	O75038	323
OR52R1	NMRK1	Q9NWW6	321
OR52R1	RD3	Q7Z3Z2	320
OR52R1	SEMA6C	Q9H3T2	320
OR52R1	DEFA4	P12838	314
OR52R1	SPATA18	Q8TC71	305
OR52R1	SELENOP	P49908	297
OR52R1	RGS1	Q08116	290

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NGY5, O88628, P0C646, Q6IFG1, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH6, Q8NGH7, Q8NGH9, Q8NGI0, Q8NGI2, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5, Q8NGJ6, Q8NGJ7, Q8NGJ9, Q8NGK1, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NH53, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH61, Q8NH63, Q8NH64, Q8TCB6, Q8VBV9, Q96RD2, Q96RD3, Q9H255

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

235 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4804310:T:A	donor_gain	0.7100
11:4804231:A:C	donor_gain	0.6900
11:4804129:CAT:C	donor_gain	0.6800
11:4804226:A:AC	donor_gain	0.6400
11:4804135:A:AC	donor_gain	0.6300
11:4804136:G:C	donor_gain	0.6300
11:4804042:C:CT	acceptor_gain	0.6200
11:4804130:A:C	donor_gain	0.6200
11:4804272:TGGC:T	donor_gain	0.6100
11:4803584:CGG:C	acceptor_gain	0.5900
11:4803586:G:GC	acceptor_gain	0.5600
11:4803952:G:GT	donor_gain	0.5500
11:4803495:C:CT	acceptor_gain	0.5400
11:4804131:T:TA	donor_gain	0.5400
11:4804006:G:C	donor_gain	0.5300
11:4803491:ACTCC:A	acceptor_gain	0.5200
11:4803527:A:T	acceptor_gain	0.5200
11:4804069:C:CT	donor_gain	0.5200
11:4804270:CGTG:C	donor_gain	0.5200
11:4804271:GTGG:G	donor_gain	0.5200
11:4803515:A:C	acceptor_gain	0.5100
11:4803585:G:T	acceptor_gain	0.5100
11:4803586:G:C	acceptor_gain	0.5100
11:4803590:G:C	acceptor_gain	0.5100
11:4804223:CTGA:C	donor_gain	0.4800
11:4804224:TGAT:T	donor_gain	0.4800
11:4803579:C:CT	acceptor_gain	0.4700
11:4803590:G:GC	acceptor_gain	0.4700
11:4804067:A:AC	donor_gain	0.4700
11:4804092:A:AC	donor_gain	0.4600

AlphaMissense

2067 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4803868:G:C	F171L	0.759
11:4803868:G:T	F171L	0.759
11:4803870:A:G	F171L	0.759
11:4804066:G:C	F105L	0.715
11:4804066:G:T	F105L	0.715
11:4804068:A:G	F105L	0.715
11:4804336:G:C	F15L	0.713
11:4804336:G:T	F15L	0.713
11:4804338:A:G	F15L	0.713
11:4804051:A:C	F110L	0.671
11:4804051:A:T	F110L	0.671
11:4804053:A:G	F110L	0.671
11:4803580:A:C	F267L	0.668
11:4803580:A:T	F267L	0.668
11:4803582:A:G	F267L	0.668
11:4804186:A:C	F65L	0.617
11:4804186:A:T	F65L	0.617
11:4804188:A:G	F65L	0.617
11:4803901:G:C	S160R	0.601
11:4803901:G:T	S160R	0.601
11:4803903:T:G	S160R	0.601
11:4804111:A:C	F90L	0.599
11:4804111:A:T	F90L	0.599
11:4804113:A:G	F90L	0.599
11:4803595:G:C	F262L	0.595
11:4803595:G:T	F262L	0.595
11:4803597:A:G	F262L	0.595
11:4804279:G:C	F34L	0.589
11:4804279:G:T	F34L	0.589
11:4804281:A:G	F34L	0.589

dbSNP variants (sampled 300 via entrez): RS1001093262 (11:4806297 G>A), RS1001241775 (11:4805958 C>T), RS1002343674 (11:4805594 C>T), RS1002859038 (11:4805218 G>A), RS1003307745 (11:4804752 C>T), RS1003910961 (11:4804838 A>G), RS1007835072 (11:4803689 A>G), RS1008255954 (11:4806025 A>G), RS1008288430 (11:4806239 C>A,T), RS1008452320 (11:4803967 G>A,C,T), RS1009532412 (11:4805457 G>A), RS1009814658 (11:4805661 A>G), RS1010824146 (11:4804533 C>A), RS1012461941 (11:4804164 C>G,T), RS1012877431 (11:4805855 C>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

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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