OR51L1

Summary

OR51L1 (olfactory receptor family 51 subfamily L member 1, HGNC:14759) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51L1 (Q8NGJ5). 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 119682 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_001004755

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14759
Approved symbol	OR51L1
Name	olfactory receptor family 51 subfamily L member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176798
Ensembl biotype	protein_coding
Entrez	119682

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000641624, ENST00000641819, ENST00000642056

RefSeq mRNA: 1 — MANE Select: NM_001004755 NM_001004755

CCDS: CCDS31369

Canonical transcript exons

ENST00000641819 — 3 exons

Exon	Start	End
ENSE00003811628	4998824	5005536
ENSE00003812135	4997482	4997583
ENSE00003812473	4994851	4995335

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 52.82.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	52.82	silver quality
sural nerve	UBERON:0015488	45.31	gold quality
ventricular zone	UBERON:0003053	39.80	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.79	gold quality
stromal cell of endometrium	CL:0002255	38.52	gold quality
bone marrow cell	CL:0002092	38.05	gold quality
ganglionic eminence	UBERON:0004023	37.09	gold quality
lower esophagus mucosa	UBERON:0035834	36.83	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
leukocyte	CL:0000738	36.15	gold quality
monocyte	CL:0000576	35.74	gold quality
corpus callosum	UBERON:0002336	34.72	gold quality
skeletal muscle tissue	UBERON:0001134	34.71	gold quality
bone marrow	UBERON:0002371	33.80	gold quality
mucosa of transverse colon	UBERON:0004991	33.67	gold quality
cortex of kidney	UBERON:0001225	33.48	gold quality
urinary bladder	UBERON:0001255	33.41	gold quality
adrenal tissue	UBERON:0018303	33.25	gold quality
liver	UBERON:0002107	33.11	gold quality
endometrium	UBERON:0001295	32.78	gold quality
blood	UBERON:0000178	32.71	gold quality
muscle tissue	UBERON:0002385	32.03	gold quality
prefrontal cortex	UBERON:0000451	31.06	gold quality
primary visual cortex	UBERON:0002436	30.67	gold quality
muscle of leg	UBERON:0001383	30.60	gold quality
tonsil	UBERON:0002372	30.55	gold quality
calcaneal tendon	UBERON:0003701	30.39	gold quality
gastrocnemius	UBERON:0001388	30.16	gold quality
kidney	UBERON:0002113	30.00	gold quality
prostate gland	UBERON:0002367	29.83	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.91

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51l1	ENSMUSG00000080891
rattus_norvegicus	Or51l1	ENSRNOG00000015760

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), 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), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 51L1 — Q8NGJ5 (reviewed: Q8NGJ5)

Alternative names: Olfactory receptor OR11-31

All UniProt accessions (2): A0A126GVJ8, Q8NGJ5

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_001004755* (*=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 (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGJ5-F1	89.38	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): 99–191

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 19 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (6): cellular response to lipid (GO:0071396), system process (GO:0003008), 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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
response to lipid	1
cellular response to chemical stimulus	1
multicellular organismal process	1
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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

192 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51L1	PRR35	P0CG20	697
OR51L1	TMEM200A	Q86VY9	366
OR51L1	OBP2B	Q9NPH6	316
OR51L1	TRIM68	Q6AZZ1	310
OR51L1	CPA3	P15088	300
OR51L1	CPA4	Q9UI42	284
OR51L1	GLYATL3	Q5SZD4	266
OR51L1	NALCN	Q8IZF0	246
OR51L1	TRIM34	Q9BYJ4	237
OR51L1	CNGA2	Q16280	226
OR51L1	SLC25A35	Q3KQZ1	222
OR51L1	SURF2	Q15527	220
OR51L1	LCN10	Q6JVE6	212
OR51L1	GNAL	P38405	210
OR51L1	LCN15	Q6UWW0	204

IntAct

0 interactions, top by confidence:

BioGRID (1): OR51L1 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

211 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4999051:G:GG	donor_gain	0.9800
11:4999049:GA:G	donor_gain	0.9300
11:4999048:GGA:G	donor_gain	0.9100
11:4999049:GAG:G	donor_gain	0.9100
11:4999098:T:TA	donor_gain	0.9000
11:4999099:A:AA	donor_gain	0.9000
11:4999048:G:GT	donor_gain	0.8900
11:4999647:T:TA	acceptor_gain	0.7500
11:4999100:G:GG	donor_gain	0.7400
11:4999187:GCA:G	acceptor_gain	0.7000
11:4999113:A:AG	donor_gain	0.6000
11:4999187:GCAGT:G	acceptor_gain	0.6000
11:4999186:A:AG	acceptor_gain	0.5900
11:4999187:G:GG	acceptor_gain	0.5900
11:4999046:CTGGA:C	donor_gain	0.5700
11:4999005:ATGCT:A	donor_gain	0.5500
11:4999535:G:GT	donor_gain	0.5500
11:4999843:A:AG	acceptor_gain	0.5400
11:4999844:G:GG	acceptor_gain	0.5400
11:4999655:A:AG	acceptor_gain	0.5300
11:4999050:AGTA:A	donor_loss	0.5100
11:4999051:G:GC	donor_loss	0.5100
11:4999052:T:C	donor_loss	0.5100
11:4999101:C:G	donor_gain	0.5100
11:4999108:G:GA	donor_gain	0.5100
11:4999182:T:G	acceptor_gain	0.5100
11:4999642:T:G	acceptor_gain	0.5100
11:4999001:A:AG	donor_gain	0.5000
11:4999002:G:GG	donor_gain	0.5000
11:4999189:AGT:A	acceptor_gain	0.5000

AlphaMissense

2054 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4999520:T:C	F180L	0.982
11:4999522:C:A	F180L	0.982
11:4999522:C:G	F180L	0.982
11:4999442:A:C	S154R	0.967
11:4999444:C:A	S154R	0.967
11:4999444:C:G	S154R	0.967
11:4999778:T:C	F266L	0.929
11:4999780:T:A	F266L	0.929
11:4999780:T:G	F266L	0.929
11:4999022:T:C	F14L	0.920
11:4999024:T:A	F14L	0.920
11:4999024:T:G	F14L	0.920
11:4999523:T:A	C181S	0.919
11:4999524:G:C	C181S	0.919
11:4999023:T:C	F14S	0.909
11:4999023:T:G	F14C	0.904
11:4999629:T:A	I216K	0.904
11:4999523:T:C	C181R	0.899
11:4999525:T:G	C181W	0.898
11:4999865:A:C	S295R	0.893
11:4999867:T:A	S295R	0.893
11:4999867:T:G	S295R	0.893
11:4999279:C:G	C99W	0.892
11:4999535:G:C	D185H	0.890
11:4999739:T:C	F253L	0.888
11:4999741:C:A	F253L	0.888
11:4999741:C:G	F253L	0.888
11:4999430:T:C	C150R	0.880
11:4999536:A:T	D185V	0.880
11:4999539:T:A	V186D	0.879

dbSNP variants (sampled 300 via entrez): RS1000034557 (11:5002251 C>A), RS1000109013 (11:5005426 T>A), RS1000351678 (11:5000410 T>C), RS1000406969 (11:5001929 G>A,T), RS1000580844 (11:4994734 C>A,T), RS1000623217 (11:5005616 T>A,C), RS1000761460 (11:4994472 G>C,T), RS1000851230 (11:4995398 T>A,C), RS1001014041 (11:5000893 C>G), RS1001678764 (11:5005377 G>A), RS1001683112 (11:4999548 T>A,C), RS1001857827 (11:4994211 A>G), RS1001972473 (11:4994008 T>C), RS1002117355 (11:5003598 C>A), RS1002571793 (11:5003698 T>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

4 associations (top):

Study	Trait	p-value
GCST001862_4	Sickle cell anemia (haemolysis)	1.000000e-29
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
Air Pollutants	increases expression	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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