OR52A1

Summary

OR52A1 (olfactory receptor family 52 subfamily A member 1, HGNC:8318) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52A1 (Q9UKL2). 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 23538 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• MANE Select transcript: NM_012375

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8318
Approved symbol	OR52A1
Name	olfactory receptor family 52 subfamily A member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	HPFH1OR
Ensembl gene	ENSG00000182070
Ensembl biotype	protein_coding
Entrez	23538

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380367

RefSeq mRNA: 1 — MANE Select: NM_012375 NM_012375

CCDS: CCDS31374

Canonical transcript exons

ENST00000380367 — 2 exons

Exon	Start	End
ENSE00001484666	5146824	5152690
ENSE00003813043	5154447	5154757

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 71.85.

Top tissues by expression

239 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	71.85	silver quality
parotid gland	UBERON:0001831	60.19	gold quality
endothelial cell	CL:0000115	55.10	gold quality
upper leg skin	UBERON:0004262	53.57	gold quality
epithelium of nasopharynx	UBERON:0001951	52.39	gold quality
cardia of stomach	UBERON:0001162	52.22	gold quality
buccal mucosa cell	CL:0002336	49.50	gold quality
colonic epithelium	UBERON:0000397	49.45	gold quality
skin of hip	UBERON:0001554	48.79	silver quality
ventricular zone	UBERON:0003053	46.49	gold quality
subthalamic nucleus	UBERON:0001906	44.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	44.66	gold quality
sural nerve	UBERON:0015488	44.29	gold quality
oocyte	CL:0000023	43.86	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
dorsal plus ventral thalamus	UBERON:0001897	42.15	gold quality
ganglionic eminence	UBERON:0004023	41.97	gold quality
bone marrow cell	CL:0002092	41.83	gold quality
vastus lateralis	UBERON:0001379	41.73	gold quality
quadriceps femoris	UBERON:0001377	41.68	gold quality
skeletal muscle tissue	UBERON:0001134	41.59	silver quality
bone marrow	UBERON:0002371	41.47	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
inferior vagus X ganglion	UBERON:0005363	41.29	gold quality
dorsal root ganglion	UBERON:0000044	41.21	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
ventral tegmental area	UBERON:0002691	41.01	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.06

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52A1 — Q9UKL2 (reviewed: Q9UKL2)

Alternative names: HPFH1OR, Odorant receptor HOR3’beta4, Olfactory receptor OR11-319

All UniProt accessions (1): Q9UKL2

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_036507* (*=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 conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKL2-F1	90.10	0.69

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): 99–182

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: 42 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, PRC2_SUZ12_UP.V1_DN, GSE13485_CTRL_VS_DAY21_YF17D_VACCINE_PBMC_DN, GSE13485_DAY3_VS_DAY21_YF17D_VACCINE_PBMC_DN

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

GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), 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
sensory perception of chemical stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
system process	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
signaling receptor activity	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

182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52A1	C1orf198	Q9H425	571
OR52A1	INSL5	Q9Y5Q6	506
OR52A1	TAAR5	O14804	462
OR52A1	SYNE1	Q8NF91	353
OR52A1	ZNF280B	Q86YH2	351
OR52A1	HBE1	P02100	350
OR52A1	PGM3	O95394	339
OR52A1	CLINT1	Q14677	320
OR52A1	OR4D6	Q8NGJ1	312
OR52A1	A0A0J9YYA3	A0A0J9YYA3	309
OR52A1	ST3GAL4	Q11206	307
OR52A1	DMXL1	Q9Y485	305
OR52A1	OR2J1	Q9GZK6	298
OR52A1	LZIC	Q8WZA0	295
OR52A1	NLRP11	P59045	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

206 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5152687:AGACC:A	acceptor_loss	0.9900
11:5152688:GACC:G	acceptor_loss	0.9900
11:5152689:ACCT:A	acceptor_loss	0.9900
11:5152691:C:CC	acceptor_gain	0.9900
11:5152691:C:CG	acceptor_loss	0.9900
11:5152692:T:A	acceptor_loss	0.9900
11:5152686:CAGAC:C	acceptor_gain	0.9700
11:5152688:GAC:G	acceptor_gain	0.9500
11:5152699:A:T	acceptor_gain	0.9100
11:5152698:C:CT	acceptor_gain	0.9000
11:5152687:AGAC:A	acceptor_gain	0.8800
11:5152689:AC:A	acceptor_gain	0.8200
11:5152690:CC:C	acceptor_gain	0.8200
11:5153690:T:TA	donor_gain	0.7500
11:5153698:T:A	donor_gain	0.7400
11:5154640:T:C	donor_gain	0.7300
11:5152548:CA:C	donor_gain	0.7000
11:5154627:CA:C	donor_gain	0.7000
11:5152693:G:GC	acceptor_gain	0.6800
11:5154442:CTCA:C	donor_loss	0.5900
11:5154443:TCACC:T	donor_loss	0.5900
11:5154444:CAC:C	donor_loss	0.5900
11:5154445:ACCA:A	donor_loss	0.5900
11:5154446:C:CA	donor_loss	0.5900
11:5152638:A:AC	donor_gain	0.5800
11:5154438:ATCAC:A	donor_loss	0.5800
11:5154439:TCACT:T	donor_loss	0.5800
11:5153687:A:AC	donor_gain	0.5600
11:5153688:C:CC	donor_gain	0.5600
11:5154739:C:CC	acceptor_gain	0.5500

AlphaMissense

2069 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5152136:G:C	S78R	0.887
11:5152136:G:T	S78R	0.887
11:5152138:T:G	S78R	0.887
11:5152139:G:C	S77R	0.873
11:5152139:G:T	S77R	0.873
11:5152141:T:G	S77R	0.873
11:5151569:A:C	F267L	0.849
11:5151569:A:T	F267L	0.849
11:5151571:A:G	F267L	0.849
11:5151527:G:C	S281R	0.847
11:5151527:G:T	S281R	0.847
11:5151529:T:G	S281R	0.847
11:5151608:G:C	F254L	0.808
11:5151608:G:T	F254L	0.808
11:5151610:A:G	F254L	0.808
11:5151584:G:C	F262L	0.802
11:5151584:G:T	F262L	0.802
11:5151586:A:G	F262L	0.802
11:5151699:A:T	I224K	0.778
11:5152271:G:C	F33L	0.771
11:5152271:G:T	F33L	0.771
11:5152273:A:G	F33L	0.771
11:5151911:C:A	R153S	0.770
11:5151911:C:G	R153S	0.770
11:5151699:A:G	I224T	0.768
11:5152010:C:A	M120I	0.765
11:5152010:C:G	M120I	0.765
11:5152010:C:T	M120I	0.765
11:5151731:G:C	D213E	0.764
11:5151731:G:T	D213E	0.764

dbSNP variants (sampled 300 via entrez): RS1000245039 (11:5152008 G>A,T), RS1000356911 (11:5154550 T>C), RS1000482415 (11:5147902 C>T), RS1000497123 (11:5153801 C>A,T), RS1000514634 (11:5147640 T>C), RS1000956105 (11:5156554 C>G,T), RS1001009764 (11:5156350 G>A), RS1001514678 (11:5153748 C>CT), RS1001967010 (11:5153356 A>C), RS1002052345 (11:5147151 A>G), RS1002139286 (11:5147275 T>A,C), RS1002271512 (11:5154502 A>G), RS1003308315 (11:5152467 A>C), RS1003694159 (11:5148818 AAAG>A), RS1003849812 (11:5154322 A>C)

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

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation	2
bisphenol F	affects cotreatment, decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Thiram	increases expression	1
Tretinoin	decreases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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