OR8S1

Summary

OR8S1 (olfactory receptor family 8 subfamily S member 1, HGNC:19628) is a protein-coding gene on chromosome 12q13.11, encoding Olfactory receptor 8S1 (Q8NH09). 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 341568 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 46 total
• MANE Select transcript: NM_001390849

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19628
Approved symbol	OR8S1
Name	olfactory receptor family 8 subfamily S member 1
Location	12q13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284723
Ensembl biotype	protein_coding
Entrez	341568

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641651

RefSeq mRNA: 1 — MANE Select: NM_001390849 NM_001390849

CCDS: CCDS91690

Canonical transcript exons

ENST00000641651 — 1 exons

Exon	Start	End
ENSE00003813665	48525632	48526570

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 39.68.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
superior frontal gyrus	UBERON:0002661	39.68	gold quality
granulocyte	CL:0000094	37.78	gold quality
tibial nerve	UBERON:0001323	37.72	silver 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
left ovary	UBERON:0002119	35.47	silver quality
duodenum	UBERON:0002114	34.75	gold quality
ovary	UBERON:0000992	34.64	silver quality
right uterine tube	UBERON:0001302	33.99	gold quality
prefrontal cortex	UBERON:0000451	33.93	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle layer of sigmoid colon	UBERON:0035805	32.22	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
gall bladder	UBERON:0002110	32.12	silver quality
right adrenal gland cortex	UBERON:0035827	31.94	gold quality
right ovary	UBERON:0002118	31.93	silver quality
bone marrow	UBERON:0002371	31.74	gold quality
left adrenal gland	UBERON:0001234	31.63	silver quality
frontal cortex	UBERON:0001870	31.30	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
adrenal gland	UBERON:0002369	30.59	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right adrenal gland	UBERON:0001233	29.48	silver quality
leukocyte	CL:0000738	29.41	gold quality
liver	UBERON:0002107	29.02	gold quality
monocyte	CL:0000576	28.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8s16	ENSMUSG00000062037
rattus_norvegicus	Or8s16	ENSRNOG00000078925

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 8S1 — Q8NH09 (reviewed: Q8NH09)

All UniProt accessions (1): A0A286YFL9

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_001377778* (*=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 3, sequence conflict 2, chain 1, region of interest 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH09-F1	76.65	0.37

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): 97–189

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: 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, MARTENS_TRETINOIN_RESPONSE_UP, 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

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

182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8S1	RHNO1	Q9BSD3	370
OR8S1	FBXL22	Q6P050	354
OR8S1	ZNF664	Q8N3J9	350
OR8S1	KLHL25	Q9H0H3	349
OR8S1	ZNRF2	Q8NHG8	336
OR8S1	GNAL	P38405	324
OR8S1	KLHL21	Q9UJP4	321
OR8S1	GPSM1	Q86YR5	289
OR8S1	NPFFR1	Q9GZQ6	280
OR8S1	DTX3	Q8N9I9	274
OR8S1	AP1S1	P61966	273
OR8S1	AP1M1	Q9BXS5	252
OR8S1	GLRA1	P23415	249
OR8S1	UBE2O	Q9C0C9	245
OR8S1	GNG7	O60262	244

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6ND48, A6NFC9, B2RN74, O43869, O60412, O60431, P23265, P31388, P34987, P47883, P47884, P47887, P58170, Q0VAX9, Q5JRS4, Q60894, Q6IFN5, Q7Z3T1, Q8NG78, Q8NG84, Q8NG94, Q8NG99, Q8NGC0, Q8NGC1, Q8NGC5, Q8NGE7, Q8NGG2, Q8NGG3, Q8NGN1, Q8NGN2, Q8NGR1, Q8NGR2, Q8NGR6, Q8NGT2, Q8NGW1, Q8NGW6, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07

Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

91 predictions. Top by Δscore:

Variant	Effect	Δscore
12:48525781:GGC:G	donor_gain	0.9300
12:48525818:C:CG	donor_gain	0.8600
12:48525782:G:T	donor_gain	0.8500
12:48525807:T:G	donor_gain	0.7700
12:48526048:GCT:G	donor_gain	0.7500
12:48525798:A:AG	donor_gain	0.7400
12:48525752:G:GT	donor_gain	0.7100
12:48525818:C:G	donor_gain	0.7000
12:48526039:GG:G	donor_gain	0.6100
12:48526040:GG:G	donor_gain	0.6100
12:48525798:A:G	donor_gain	0.6000
12:48525811:T:TG	donor_gain	0.6000
12:48525982:G:T	donor_gain	0.5900
12:48526511:G:GT	donor_gain	0.5300
12:48525753:A:T	donor_gain	0.5200
12:48525899:A:T	donor_gain	0.5200
12:48526044:A:AG	donor_gain	0.4900
12:48526045:A:G	donor_gain	0.4900
12:48526043:AAAC:A	donor_gain	0.4800
12:48525808:G:GG	donor_gain	0.4700
12:48525898:G:GT	donor_gain	0.4600
12:48526036:CATGG:C	donor_loss	0.4600
12:48526037:ATGGG:A	donor_loss	0.4600
12:48526038:TGG:T	donor_loss	0.4600
12:48526041:GTAA:G	donor_loss	0.4600
12:48526042:T:G	donor_loss	0.4600
12:48525910:A:AG	donor_gain	0.4500
12:48525911:G:GG	donor_gain	0.4500
12:48526043:A:T	donor_loss	0.4500
12:48525812:T:G	donor_gain	0.4400

AlphaMissense

2019 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:48526343:T:C	F238L	0.732
12:48526345:C:A	F238L	0.732
12:48526345:C:G	F238L	0.732
12:48526133:T:C	F168L	0.698
12:48526135:T:A	F168L	0.698
12:48526135:T:G	F168L	0.698
12:48525665:T:C	F12L	0.697
12:48525667:C:A	F12L	0.697
12:48525667:C:G	F12L	0.697
12:48525713:T:C	F28L	0.621
12:48525715:T:A	F28L	0.621
12:48525715:T:G	F28L	0.621
12:48525935:T:C	F102L	0.599
12:48525937:C:A	F102L	0.599
12:48525937:C:G	F102L	0.599
12:48526339:G:C	K236N	0.567
12:48526339:G:T	K236N	0.567

dbSNP variants (sampled 300 via entrez): RS1000386571 (12:48525503 C>CT), RS1001113352 (12:48526776 A>G), RS1004456192 (12:48524674 T>C), RS1006419843 (12:48524439 G>A), RS1012824855 (12:48524892 C>T), RS1013288825 (12:48523633 T>A), RS1013824546 (12:48526424 G>C), RS1013957915 (12:48526705 G>A), RS1014546179 (12:48525467 G>A), RS1016004879 (12:48524452 T>C), RS1016536962 (12:48524157 G>T), RS1017709730 (12:48523730 C>T), RS1018986948 (12:48525535 A>G), RS1019455337 (12:48525740 C>G), RS1020053602 (12:48526823 G>A)

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

2 associations (top):

Study	Trait	p-value
GCST002233_2	Adiponectin levels	1.000000e-07
GCST002933_4	Magnesium levels	5.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004502	adiponectin measurement
EFO:0004845	magnesium measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	decreases methylation	1
Arsenicals	increases methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1

Clinical trials (associated diseases)

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