OR51S1

Summary

OR51S1 (olfactory receptor family 51 subfamily S member 1, HGNC:15204) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51S1 (Q8NGJ8). 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 119692 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• MANE Select transcript: NM_001004758

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15204
Approved symbol	OR51S1
Name	olfactory receptor family 51 subfamily S member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176922
Ensembl biotype	protein_coding
Entrez	119692

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000322101

RefSeq mRNA: 1 — MANE Select: NM_001004758 NM_001004758

CCDS: CCDS31362

Canonical transcript exons

ENST00000322101 — 1 exons

Exon	Start	End
ENSE00001282639	4848237	4849208

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.50	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
sural nerve	UBERON:0015488	36.02	gold quality
granulocyte	CL:0000094	35.55	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	33.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.76	gold quality
monocyte	CL:0000576	29.40	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
urinary bladder	UBERON:0001255	28.67	gold quality
liver	UBERON:0002107	28.29	gold quality
duodenum	UBERON:0002114	28.14	gold quality
islet of Langerhans	UBERON:0000006	27.99	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.02	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
cortex of kidney	UBERON:0001225	25.54	gold quality
kidney	UBERON:0002113	25.05	gold quality
muscle of leg	UBERON:0001383	24.97	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.31

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51s1	ENSMUSG00000043310
rattus_norvegicus	Or51s1	ENSRNOG00000015444

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), 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 51S1 — Q8NGJ8 (reviewed: Q8NGJ8)

Alternative names: Olfactory receptor OR11-24

All UniProt accessions (2): A0A126GWN3, Q8NGJ8

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_001004758* (*=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-Q8NGJ8-F1	85.00	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): 105–197

Glycosylation sites (1): 11

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 (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

110 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51S1	TAS2R16	Q9NYV7	487
OR51S1	TAAR5	O14804	428
OR51S1	TRHR	P34981	348
OR51S1	ADRA2C	P18825	323
OR51S1	GPR55	Q9Y2T6	262
OR51S1	REEP4	Q9H6H4	257
OR51S1	OR4C13	Q8NGP0	250
OR51S1	OR4K15	Q8NH41	226
OR51S1	OR8D4	Q8NGM9	214
OR51S1	OR6P1	Q8NGX9	214
OR51S1	OR10V1	Q8NGI7	209
OR51S1	RHO	P08100	182
OR51S1	ARHGEF40	Q8TER5	181
OR51S1	ST3GAL2	Q16842	179
OR51S1	SESTD1	Q86VW0	167

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NGY5, A6NMU1, B3DH96, O88628, P0C646, P0C7T3, Q5J3E5, Q5J3G9, Q5J3M9, Q5QD29, Q6IF63, Q6W049, Q8NGB9, Q8NGD3, Q8NGF0, Q8NGF1, Q8NGH6, Q8NGH7, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGJ4, Q8NGJ8, Q8NGJ9, Q8NGK5, Q8NGK6, Q8NGV6, Q8NH53, Q8NH55, Q8NH56, Q8NH60, Q8NH61, Q8NH63, Q8NH67, Q8NH76, Q8NHC6, Q8TCB6, Q8VBV9

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

362 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4849064:CCAG:C	acceptor_gain	0.7400
11:4849063:C:A	donor_gain	0.7300
11:4848533:C:CT	acceptor_gain	0.7000
11:4848635:CAT:C	acceptor_gain	0.7000
11:4848989:G:C	donor_gain	0.6900
11:4848637:TC:T	acceptor_loss	0.6800
11:4848639:T:A	acceptor_loss	0.6700
11:4849065:CAG:C	acceptor_gain	0.6700
11:4848638:C:CC	acceptor_gain	0.6600
11:4848532:CCA:C	acceptor_gain	0.6500
11:4848534:A:C	acceptor_gain	0.6500
11:4848572:C:CC	acceptor_gain	0.6500
11:4848633:CACAT:C	acceptor_gain	0.6500
11:4848763:A:C	donor_gain	0.6500
11:4848567:CATGG:C	acceptor_gain	0.6400
11:4849063:CCCAG:C	acceptor_gain	0.6400
11:4848533:C:T	acceptor_gain	0.6300
11:4848767:CA:C	donor_gain	0.6300
11:4848855:C:CT	acceptor_gain	0.6300
11:4848330:CAA:C	acceptor_gain	0.6100
11:4848528:C:CT	acceptor_gain	0.6100
11:4848642:A:AC	acceptor_gain	0.6100
11:4849124:ATAGG:A	donor_gain	0.6100
11:4848524:C:CT	acceptor_gain	0.6000
11:4848766:A:AC	donor_gain	0.6000
11:4848767:C:CC	donor_gain	0.6000
11:4848854:C:CA	donor_gain	0.6000
11:4849187:T:C	donor_gain	0.6000
11:4848331:A:T	acceptor_gain	0.5900
11:4849062:T:TA	donor_gain	0.5900

AlphaMissense

2070 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4849149:G:C	F20L	0.962
11:4849149:G:T	F20L	0.962
11:4849151:A:G	F20L	0.962
11:4848984:A:C	S75R	0.956
11:4848984:A:T	S75R	0.956
11:4848986:T:G	S75R	0.956
11:4848435:G:C	F258L	0.951
11:4848435:G:T	F258L	0.951
11:4848437:A:G	F258L	0.951
11:4849150:A:C	F20C	0.939
11:4849150:A:G	F20S	0.924
11:4848731:A:G	C160R	0.917
11:4848309:A:C	S300R	0.916
11:4848309:A:T	S300R	0.916
11:4848311:T:G	S300R	0.916
11:4849059:A:C	N50K	0.915
11:4849059:A:T	N50K	0.915
11:4848829:G:A	S127F	0.914
11:4848345:G:C	F288L	0.909
11:4848345:G:T	F288L	0.909
11:4848347:A:G	F288L	0.909
11:4848841:A:G	L123S	0.904
11:4848560:C:G	D217H	0.903
11:4848894:G:C	C105W	0.891
11:4848829:G:T	S127Y	0.890
11:4848970:C:T	G80E	0.886
11:4848831:C:A	M126I	0.882
11:4848831:C:G	M126I	0.882
11:4848831:C:T	M126I	0.882
11:4848559:T:C	D217G	0.881

dbSNP variants (sampled 300 via entrez): RS1001188122 (11:4850346 A>T), RS1001219434 (11:4850102 A>G), RS1001226930 (11:4847880 G>C,T), RS1003262993 (11:4851192 G>A,T), RS1003494079 (11:4850819 A>G,T), RS1004591519 (11:4849824 A>T), RS1004978851 (11:4850358 T>C,G), RS1006064767 (11:4848916 T>C,G), RS1008133844 (11:4850439 T>C), RS1009448177 (11:4849776 C>A), RS1010082565 (11:4849353 T>C), RS1010447465 (11:4850958 C>T), RS1011264873 (11:4850584 G>A), RS1011463958 (11:4849768 T>A,C), RS1011965826 (11:4850398 T>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
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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