OR52I1

Summary

OR52I1 (olfactory receptor family 52 subfamily I member 1, HGNC:15220) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52I1 (Q8NGK6). 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.

Source: NCBI Gene 390037 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_001005169

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15220
Approved symbol	OR52I1
Name	olfactory receptor family 52 subfamily I member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000232268
Ensembl biotype	protein_coding
Entrez	390037

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000530443

RefSeq mRNA: 1 — MANE Select: NM_001005169 NM_001005169

CCDS: CCDS59223

Canonical transcript exons

ENST00000530443 — 1 exons

Exon	Start	End
ENSE00002150010	4594039	4595013

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 76.23.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.23	gold quality
colonic epithelium	UBERON:0000397	51.70	gold quality
bone marrow cell	CL:0002092	44.94	gold quality
cortical plate	UBERON:0005343	44.60	gold quality
sural nerve	UBERON:0015488	42.34	gold quality
calcaneal tendon	UBERON:0003701	40.86	gold quality
bone marrow	UBERON:0002371	40.76	gold quality
tonsil	UBERON:0002372	40.21	gold quality
ventricular zone	UBERON:0003053	39.81	gold quality
monocyte	CL:0000576	39.76	gold quality
leukocyte	CL:0000738	39.72	gold quality
corpus callosum	UBERON:0002336	38.86	gold quality
lower esophagus mucosa	UBERON:0035834	37.28	gold quality
granulocyte	CL:0000094	37.14	gold quality
liver	UBERON:0002107	36.58	gold quality
blood	UBERON:0000178	36.50	gold quality
lymph node	UBERON:0000029	36.28	gold quality
urinary bladder	UBERON:0001255	35.61	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.25	gold quality
mucosa of transverse colon	UBERON:0004991	35.04	gold quality
vermiform appendix	UBERON:0001154	34.89	gold quality
apex of heart	UBERON:0002098	34.82	gold quality
adrenal tissue	UBERON:0018303	34.01	gold quality
endometrium	UBERON:0001295	33.43	gold quality
primary visual cortex	UBERON:0002436	33.18	gold quality
smooth muscle tissue	UBERON:0001135	32.99	gold quality
prostate gland	UBERON:0002367	32.40	gold quality
prefrontal cortex	UBERON:0000451	32.16	gold quality
right lung	UBERON:0002167	32.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.77

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• This publication uses ‘GPR134’ as a name for this gene. (PMID:12732197)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52i2	ENSMUSG00000073969
rattus_norvegicus	Or52i2	ENSRNOG00000047148

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 52I1 — Q8NGK6 (reviewed: Q8NGK6)

Alternative names: Olfactory receptor OR11-13

All UniProt accessions (1): Q8NGK6

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_001005169* (*=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 (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-Q8NGK6-F1	85.22	0.55

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): 101–193

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: 18 (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, MCCABE_BOUND_BY_HOXC6

GO Biological Process (4): 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 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
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

112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52I1	CNGA4	Q8IV77	289
OR52I1	PLCB2	Q00722	257
OR52I1	PAQR6	Q6TCH4	239
OR52I1	ADCY3	O60266	230
OR52I1	OR5C1	Q8NGR4	225
OR52I1	OLFM2	O95897	204
OR52I1	GUCY2F	P51841	202
OR52I1	CNGA2	Q16280	193
OR52I1	TAAR9	Q96RI9	180
OR52I1	RIC8B	Q9NVN3	176
OR52I1	GNAL	P38405	172
OR52I1	OR2AE1	Q8NHA4	171
OR52I1	ZBTB14	O43829	167
OR52I1	OR10H1	Q9Y4A9	167
OR52I1	SAP130	Q9H0E3	166

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR52I1	HRAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): SLC12A4 (Affinity Capture-MS), HRAS (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), SLC4A2 (Affinity Capture-MS)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

206 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4594290:GATG:G	donor_gain	0.9700
11:4594226:T:G	donor_gain	0.9000
11:4594294:G:GG	donor_gain	0.9000
11:4594367:TAG:T	acceptor_gain	0.9000
11:4594215:GCA:G	donor_gain	0.8700
11:4594366:TTAG:T	acceptor_gain	0.8700
11:4594283:TACCC:T	donor_gain	0.8500
11:4594284:ACCCA:A	donor_gain	0.8500
11:4594368:A:AG	acceptor_gain	0.8400
11:4594368:AGCCA:A	acceptor_gain	0.8400
11:4594369:G:GG	acceptor_gain	0.8400
11:4594365:CTTAG:C	acceptor_gain	0.8200
11:4594292:TGGTG:T	donor_loss	0.8100
11:4594294:G:T	donor_loss	0.8100
11:4594295:T:C	donor_loss	0.8100
11:4594296:G:GG	donor_loss	0.8100
11:4594297:AG:A	donor_loss	0.8000
11:4594369:G:T	acceptor_gain	0.8000
11:4594281:G:GA	donor_gain	0.7900
11:4594298:G:C	donor_loss	0.7800
11:4594216:C:T	donor_gain	0.7200
11:4594369:GCC:G	acceptor_gain	0.6800
11:4594200:G:GT	donor_gain	0.5800
11:4594289:AGATG:A	donor_gain	0.5800
11:4594290:GATGG:G	donor_gain	0.5800
11:4594230:T:TG	donor_gain	0.5400
11:4594364:A:AG	acceptor_gain	0.5300
11:4594292:TG:T	donor_gain	0.5200
11:4594293:GG:G	donor_gain	0.5200
11:4594370:CCAC:C	acceptor_gain	0.5200

AlphaMissense

2118 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4594552:T:C	F172L	0.858
11:4594554:C:A	F172L	0.858
11:4594554:C:G	F172L	0.858
11:4594084:T:C	F16L	0.817
11:4594086:C:A	F16L	0.817
11:4594086:C:G	F16L	0.817
11:4594330:T:C	F98L	0.742
11:4594332:T:A	F98L	0.742
11:4594332:T:G	F98L	0.742
11:4594303:T:C	F89L	0.718
11:4594305:C:A	F89L	0.718
11:4594305:C:G	F89L	0.718
11:4594354:T:C	F106L	0.715
11:4594356:T:A	F106L	0.715
11:4594356:T:G	F106L	0.715
11:4594408:T:C	F124L	0.700
11:4594410:T:A	F124L	0.700
11:4594410:T:G	F124L	0.700
11:4594144:A:C	S36R	0.642
11:4594146:T:A	S36R	0.642
11:4594146:T:G	S36R	0.642
11:4594100:T:C	I21T	0.627
11:4594342:T:C	F102L	0.619
11:4594344:C:A	F102L	0.619
11:4594344:C:G	F102L	0.619
11:4594234:T:C	F66L	0.617
11:4594236:T:A	F66L	0.617
11:4594236:T:G	F66L	0.617
11:4594758:A:C	K240N	0.612
11:4594758:A:T	K240N	0.612

dbSNP variants (sampled 300 via entrez): RS1000722768 (11:4592763 T>G), RS1001656700 (11:4593603 A>G), RS1001995316 (11:4592424 T>C), RS1005066123 (11:4593275 C>T), RS1005338506 (11:4593049 T>C), RS1005928487 (11:4594361 T>TC), RS1007632046 (11:4593032 T>G), RS1008038203 (11:4592813 G>C), RS1009141848 (11:4592660 C>A,G), RS1009214233 (11:4592639 A>G), RS1009422581 (11:4592357 T>A), RS1011198746 (11:4593339 G>A,T), RS1011391774 (11:4595094 C>T), RS1017813752 (11:4592662 A>C), RS1018773939 (11:4593759 G>A)

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
2-palmitoylglycerol	increases expression	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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