OR52L1

Summary

OR52L1 (olfactory receptor family 52 subfamily L member 1, HGNC:14785) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 52L1 (Q8NGH7). 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 338751 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_001005173

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14785
Approved symbol	OR52L1
Name	olfactory receptor family 52 subfamily L member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000183313
Ensembl biotype	protein_coding
Entrez	338751

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000332249

RefSeq mRNA: 1 — MANE Select: NM_001005173 NM_001005173

CCDS: CCDS44529

Canonical transcript exons

ENST00000332249 — 1 exons

Exon	Start	End
ENSE00001301590	5985892	5986985

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 42.51.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	42.51	gold quality
ventricular zone	UBERON:0003053	41.67	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	37.10	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
leukocyte	CL:0000738	30.61	gold quality
monocyte	CL:0000576	30.28	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.40	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
fundus of stomach	UBERON:0001160	28.63	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
right coronary artery	UBERON:0001625	27.46	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.94	gold quality
vermiform appendix	UBERON:0001154	26.42	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
stomach	UBERON:0000945	25.79	gold quality
body of stomach	UBERON:0001161	25.53	gold quality
endometrium	UBERON:0001295	25.23	gold quality
muscle of leg	UBERON:0001383	25.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or52l1	ENSMUSG00000047794
rattus_norvegicus	Or52l1	ENSRNOG00000062378
rattus_norvegicus	Or52l1b	ENSRNOG00000063165

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), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 52L1 — Q8NGH7 (reviewed: Q8NGH7)

Alternative names: Olfactory receptor OR11-50

All UniProt accessions (1): Q8NGH7

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_001005173* (*=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 (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGH7-F1	84.82	0.53

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): 115–207

Glycosylation sites (1): 20

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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, GSE20727_ROS_INH_VS_ROS_INH_AND_DNFB_ALLERGEN_TREATED_DC_DN

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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), protein binding (GO:0005515)

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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

264 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR52L1	TAS2R50	P59544	643
OR52L1	TAS2R13	Q9NYV9	622
OR52L1	TAS2R5	Q9NYW4	598
OR52L1	TAS2R10	Q9NYW0	511
OR52L1	GNGT1	P63211	470
OR52L1	CNGA4	Q8IV77	467
OR52L1	VN1R4	Q7Z5H5	448
OR52L1	REEP6	Q96HR9	423
OR52L1	VN1R2	Q8NFZ6	420
OR52L1	MRGPRG	Q86SM5	419
OR52L1	TAS2R14	Q9NYV8	419
OR52L1	VN1R1	Q9GZP7	367
OR52L1	SPEM1	Q8N4L4	336
OR52L1	GPR171	O14626	334
OR52L1	TAS2R4	Q9NYW5	330

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ALX1	OR52L1	psi-mi:“MI:0915”(physical association)	0.560
OR52L1	ALX1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): OR52L1 (Affinity Capture-MS), OR52L1 (Two-hybrid)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

366 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5986089:C:CT	acceptor_gain	0.8600
11:5985913:C:T	acceptor_gain	0.8500
11:5986121:A:C	acceptor_gain	0.8500
11:5985914:G:T	acceptor_gain	0.8400
11:5986090:G:T	acceptor_gain	0.8300
11:5986114:C:CT	acceptor_gain	0.8300
11:5985913:C:CT	acceptor_gain	0.8200
11:5986064:A:C	acceptor_gain	0.8200
11:5986076:A:C	acceptor_gain	0.8000
11:5986131:A:T	acceptor_gain	0.7800
11:5986085:A:T	acceptor_gain	0.7500
11:5986041:CA:C	acceptor_gain	0.7400
11:5986942:T:TA	donor_gain	0.7400
11:5986049:C:CT	acceptor_gain	0.7300
11:5986050:A:T	acceptor_gain	0.7100
11:5986114:C:T	acceptor_gain	0.7100
11:5986000:C:CT	acceptor_gain	0.7000
11:5986029:A:C	acceptor_gain	0.7000
11:5986095:G:GC	acceptor_gain	0.7000
11:5986115:A:T	acceptor_gain	0.7000
11:5986130:C:CT	acceptor_gain	0.6900
11:5986049:C:T	acceptor_gain	0.6800
11:5986022:A:T	acceptor_gain	0.6700
11:5986042:A:AC	acceptor_gain	0.6700
11:5986019:C:CT	acceptor_gain	0.6600
11:5986040:CCA:C	acceptor_gain	0.6600
11:5986042:A:T	acceptor_gain	0.6600
11:5986044:G:C	acceptor_gain	0.6600
11:5986812:T:A	donor_gain	0.6600
11:5985973:G:A	donor_gain	0.6500

AlphaMissense

2124 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1002690347 (11:5988333 C>G,T), RS1002721715 (11:5988033 T>C), RS1003339790 (11:5987154 G>A), RS1004432983 (11:5986526 G>T), RS1006049813 (11:5987823 AT>A), RS1006516168 (11:5987998 T>C), RS1009695007 (11:5985681 A>C), RS1010162503 (11:5985492 C>G), RS1012172079 (11:5988274 G>A), RS1012773094 (11:5988823 A>C), RS1013221723 (11:5988826 T>A), RS1013597963 (11:5985578 A>C), RS1014800042 (11:5987824 T>C), RS1014851640 (11:5988031 C>A), RS1017011462 (11:5987315 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

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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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