OR1S1

Summary

OR1S1 (olfactory receptor family 1 subfamily S member 1, HGNC:8227) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 1S1 (Q8NH92). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 219959 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001004458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8227
Approved symbol	OR1S1
Name	olfactory receptor family 1 subfamily S member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	OST034
Ensembl gene	ENSG00000280204
Ensembl biotype	protein_coding
Entrez	219959

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641544

RefSeq mRNA: 1 — MANE Select: NM_001004458 NM_001004458

Canonical transcript exons

ENST00000641544 — 2 exons

Exon	Start	End
ENSE00003811821	58214729	58216084
ENSE00003812551	58212720	58212837

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.77.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	37.77	gold quality
colonic epithelium	UBERON:0000397	37.20	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
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
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.61	gold quality
tonsil	UBERON:0002372	28.60	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.96	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	26.62	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
monocyte	CL:0000576	26.52	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.32	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
calcaneal tendon	UBERON:0003701	25.90	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
kidney	UBERON:0002113	25.70	gold quality
cortex of kidney	UBERON:0001225	25.49	gold quality
muscle of leg	UBERON:0001383	25.22	gold quality
ectocervix	UBERON:0012249	25.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.63

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1s2	ENSMUSG00000048356
rattus_norvegicus	Or1s2	ENSRNOG00000013192

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200)

Protein

Protein identifiers

Olfactory receptor 1S1 — Q8NH92 (reviewed: Q8NH92)

Alternative names: Olfactory receptor OR11-232

All UniProt accessions (1): A0A286YF57

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_001004458* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (24 total): topological domain 8, transmembrane region 7, sequence variant 6, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH92-F1	86.17	0.58

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): 110–202

Glycosylation sites (1): 18

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 19 (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, chr11q12

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

62 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1S1	HAUS3	Q68CZ6	73
OR1S1	ARRB2	P32121	56
OR1S1	ARRB1	P49407	56
OR1S1	PRKACA	P17612	42
OR1S1	GRK2	P25098	42
OR1S1	GRK3	P35626	42
OR1S1	PRKACB	P22694	42
OR1S1	PRKACG	P22612	42
OR1S1	GNG13	Q9P2W3	0
OR1S1	OR1S2	Q8NGQ3	0
OR1S1	OR4S1	Q8NGB4	0
OR1S1	OR8K5	Q8NH50	0
OR1S1	OR4C15	Q8NGM1	0
OR1S1	OR4A15	Q8NGL6	0
OR1S1	OR4F6	Q8NGB9	0
OR1S1	GNAL	P38405	0
OR1S1	OR5D14	Q8NGL3	0
OR1S1	OR6K2	Q8NGY2	0
OR1S1	OR5D16	Q8NGK9	0
OR1S1	OR5L2	Q8NGL0	0
OR1S1	GNB1	P04697	0
OR1S1	GNG7	O60262	0

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

200 predictions. Top by Δscore:

Variant	Effect	Δscore
11:58214844:GA:G	donor_gain	0.9500
11:58215437:T:G	acceptor_gain	0.8600
11:58215419:A:AG	acceptor_gain	0.8400
11:58215450:A:AG	acceptor_gain	0.8100
11:58215451:G:GG	acceptor_gain	0.8100
11:58215451:GAGCT:G	acceptor_gain	0.7900
11:58214845:A:G	donor_gain	0.7500
11:58215445:T:G	acceptor_gain	0.7500
11:58214879:GG:G	donor_gain	0.7200
11:58214880:GG:G	donor_gain	0.7200
11:58215436:A:AG	acceptor_gain	0.7200
11:58215441:T:TA	acceptor_gain	0.7100
11:58215451:GA:G	acceptor_gain	0.7000
11:58214878:TGGG:T	donor_loss	0.6900
11:58214879:GGGT:G	donor_loss	0.6900
11:58214880:GGT:G	donor_loss	0.6900
11:58214881:G:C	donor_loss	0.6900
11:58214882:T:G	donor_loss	0.6900
11:58215444:A:AG	acceptor_gain	0.6900
11:58214881:G:GG	donor_gain	0.6600
11:58215539:C:CA	acceptor_gain	0.6400
11:58215437:T:TA	acceptor_gain	0.6300
11:58215014:A:AG	acceptor_gain	0.6200
11:58215015:G:GG	acceptor_gain	0.6200
11:58215417:ACACT:A	acceptor_gain	0.6000
11:58215418:CACTC:C	acceptor_gain	0.6000
11:58215419:ACTCA:A	acceptor_gain	0.6000
11:58215446:CATCA:C	acceptor_loss	0.6000
11:58215447:ATCAG:A	acceptor_loss	0.6000
11:58215449:CA:C	acceptor_loss	0.6000

AlphaMissense

2063 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:58214817:T:C	F25L	0.896
11:58214819:C:A	F25L	0.896
11:58214819:C:G	F25L	0.896
11:58215285:T:C	F181L	0.745
11:58215287:C:A	F181L	0.745
11:58215287:C:G	F181L	0.745
11:58214818:T:C	F25S	0.726
11:58215083:G:C	Q113H	0.721
11:58215083:G:T	Q113H	0.721
11:58215312:T:C	F190L	0.717
11:58215314:C:A	F190L	0.717
11:58215314:C:G	F190L	0.717
11:58214874:T:C	F44L	0.700
11:58214876:C:A	F44L	0.700
11:58214876:C:G	F44L	0.700
11:58215534:T:C	F264L	0.699
11:58215536:C:A	F264L	0.699
11:58215536:C:G	F264L	0.699
11:58215315:T:C	F191L	0.694
11:58215317:C:A	F191L	0.694
11:58215317:C:G	F191L	0.694
11:58215615:T:C	F291L	0.679
11:58215617:C:A	F291L	0.679
11:58215617:C:G	F291L	0.679
11:58215645:T:C	F301L	0.653
11:58215647:C:A	F301L	0.653
11:58215647:C:G	F301L	0.653
11:58215150:T:C	F136L	0.641
11:58215152:T:A	F136L	0.641
11:58215152:T:G	F136L	0.641

dbSNP variants (sampled 300 via entrez): RS1000183266 (11:58210838 G>A), RS1000234094 (11:58211126 T>A), RS1002429437 (11:58211394 G>A,C), RS1003200946 (11:58214292 A>T), RS1003724980 (11:58214130 A>C), RS1004424645 (11:58211370 G>A,T), RS1006058750 (11:58215001 C>T), RS1007684643 (11:58214728 G>A,T), RS1008945484 (11:58213747 C>A,T), RS1009339050 (11:58214499 T>G), RS1009474063 (11:58213570 C>T), RS1010166588 (11:58210799 A>G), RS1010293756 (11:58215282 C>T), RS1011012311 (11:58213563 A>G), RS1013604179 (11:58214268 G>C,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
GCST006919_4	Ability to confide in someone	9.000000e-08
GCST006923_2	Loneliness	3.000000e-06
GCST006924_11	Loneliness (MTAG)	8.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
mancozeb	increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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