OR4S1

Summary

OR4S1 (olfactory receptor family 4 subfamily S member 1, HGNC:14705) is a protein-coding gene on chromosome 11p11.2, encoding Olfactory receptor 4S1 (Q8NGB4). 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 256148 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_001004725

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14705
Approved symbol	OR4S1
Name	olfactory receptor family 4 subfamily S member 1
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176555
Ensembl biotype	protein_coding
Entrez	256148

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000319988

RefSeq mRNA: 1 — MANE Select: NM_001004725 NM_001004725

CCDS: CCDS31488

Canonical transcript exons

ENST00000319988 — 1 exons

Exon	Start	End
ENSE00001260482	48306223	48307152

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.93.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	37.93	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
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	28.00	gold quality
lymph node	UBERON:0000029	27.57	gold quality
monocyte	CL:0000576	27.38	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.90	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.47	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
cortex of kidney	UBERON:0001225	25.88	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	24.87	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.98

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 4S1 — Q8NGB4 (reviewed: Q8NGB4)

Alternative names: Olfactory receptor OR11-100

All UniProt accessions (2): A0A126GVU1, Q8NGB4

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_001004725* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	Family

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGB4-F1	88.84	0.59

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): 95–187

Glycosylation sites (1): 6

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, BPTF_TARGET_GENES, 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

262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4S1	KRTAP12-3	P60328	507
OR4S1	FREY1	C9JXX5	475
OR4S1	TMEM235	A6NFC5	445
OR4S1	C1QTNF8	P60827	368
OR4S1	TMEM106C	Q9BVX2	368
OR4S1	ARAP1	Q96P48	348
OR4S1	BLTP3A	Q6BDS2	324
OR4S1	NYAP1	Q6ZVC0	322
OR4S1	SPATA31D3	P0C874	320
OR4S1	ZNF445	P59923	320
OR4S1	LHFPL6	Q9Y693	320
OR4S1	COBLL1	Q53SF7	317
OR4S1	PPP1R3B	Q86XI6	304
OR4S1	DPYSL5	Q9BPU6	291
OR4S1	GIMAP2	Q9UG22	290

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4S1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

216 predictions. Top by Δscore:

Variant	Effect	Δscore
11:48306633:G:GT	donor_gain	0.8400
11:48307042:ATTGT:A	acceptor_gain	0.8400
11:48306962:T:TA	acceptor_gain	0.8000
11:48306884:T:A	acceptor_gain	0.7800
11:48307042:ATT:A	acceptor_gain	0.7700
11:48306980:T:G	acceptor_gain	0.7400
11:48307046:T:TA	acceptor_gain	0.7400
11:48306870:T:G	acceptor_gain	0.7200
11:48307043:T:G	acceptor_gain	0.6800
11:48306633:G:T	donor_gain	0.6300
11:48307044:T:A	acceptor_gain	0.6200
11:48306986:T:G	acceptor_gain	0.6100
11:48307042:A:AG	acceptor_gain	0.6100
11:48306971:T:TA	acceptor_gain	0.6000
11:48307077:T:G	acceptor_gain	0.5800
11:48307061:T:A	acceptor_gain	0.5600
11:48306882:A:AG	acceptor_gain	0.5500
11:48306971:T:G	acceptor_gain	0.5500
11:48307081:C:CG	donor_gain	0.5500
11:48306882:ACT:A	acceptor_gain	0.5400
11:48306883:C:G	acceptor_gain	0.5400
11:48306582:C:G	donor_gain	0.5300
11:48307040:ACATT:A	acceptor_gain	0.5300
11:48307041:C:G	acceptor_gain	0.5300
11:48306869:AT:A	acceptor_gain	0.5100
11:48306963:G:A	acceptor_gain	0.5100
11:48306970:AT:A	acceptor_gain	0.5100
11:48307039:A:AG	acceptor_gain	0.5100
11:48306869:A:AG	acceptor_gain	0.5000
11:48307080:A:AG	acceptor_gain	0.5000

AlphaMissense

2052 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:48306718:T:C	F166L	0.889
11:48306720:T:A	F166L	0.889
11:48306720:T:G	F166L	0.889
11:48306250:T:C	F10L	0.883
11:48306252:T:A	F10L	0.883
11:48306252:T:G	F10L	0.883
11:48306745:T:C	F175L	0.823
11:48306747:C:A	F175L	0.823
11:48306747:C:G	F175L	0.823
11:48306520:T:C	F100L	0.781
11:48306522:T:A	F100L	0.781
11:48306522:T:G	F100L	0.781
11:48306748:T:C	F176L	0.777
11:48306750:C:A	F176L	0.777
11:48306750:C:G	F176L	0.777
11:48306823:A:C	S201R	0.763
11:48306825:C:A	S201R	0.763
11:48306825:C:G	S201R	0.763
11:48306496:T:C	F92L	0.728
11:48306498:C:A	F92L	0.728
11:48306498:C:G	F92L	0.728
11:48306251:T:G	F10C	0.711
11:48306751:T:A	C177S	0.706
11:48306752:G:C	C177S	0.706
11:48306397:T:C	F59L	0.696
11:48306399:C:A	F59L	0.696
11:48306399:C:G	F59L	0.696
11:48306307:T:C	F29L	0.680
11:48306309:C:A	F29L	0.680
11:48306309:C:G	F29L	0.680

dbSNP variants (sampled 300 via entrez): RS1000287037 (11:48307463 T>A,C), RS1002731369 (11:48305444 G>A,C), RS1004112348 (11:48306911 A>G), RS1005121219 (11:48305397 G>A,C), RS1006548277 (11:48304951 T>C), RS1006989840 (11:48305137 A>T), RS1009090143 (11:48305772 T>C), RS1009566848 (11:48307455 T>A,G), RS1010575671 (11:48306432 T>C), RS1010690218 (11:48306650 CG>C), RS1011530708 (11:48304836 C>T), RS1013131624 (11:48305745 C>A,T), RS1014415777 (11:48306983 T>C), RS1015384419 (11:48306635 A>C), RS1017924782 (11:48305156 T>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

3 associations (top):

Study	Trait	p-value
GCST001527_8	Fasting blood glucose (BMI interaction)	2.000000e-08
GCST005186_5	Fasting blood glucose	2.000000e-09
GCST007825_2	Alzheimer’s disease or fasting glucose levels (pleiotropy)	6.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

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
pentanal	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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