OR6S1

Summary

OR6S1 (olfactory receptor family 6 subfamily S member 1, HGNC:15363) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 6S1 (Q8NH40). 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 341799 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 57 total — 1 pathogenic
• MANE Select transcript: NM_001001968

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15363
Approved symbol	OR6S1
Name	olfactory receptor family 6 subfamily S member 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	OR6S1Q
Ensembl gene	ENSG00000181803
Ensembl biotype	protein_coding
Entrez	341799

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000320704

RefSeq mRNA: 1 — MANE Select: NM_001001968 NM_001001968

CCDS: CCDS32038

Canonical transcript exons

ENST00000320704 — 1 exons

Exon	Start	End
ENSE00001261467	20640696	20641691

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 38.31.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	38.31	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
lymph node	UBERON:0000029	34.64	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
urinary bladder	UBERON:0001255	31.17	silver 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
vermiform appendix	UBERON:0001154	29.81	silver quality
prefrontal cortex	UBERON:0000451	29.23	gold quality
tonsil	UBERON:0002372	28.68	gold quality
liver	UBERON:0002107	28.61	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.72	gold quality
leukocyte	CL:0000738	27.71	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.52	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
muscle of leg	UBERON:0001383	24.91	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.14	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
frontal cortex	UBERON:0001870	24.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.81

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6s1	ENSMUSG00000035932
rattus_norvegicus	Or6s1	ENSRNOG00000025640

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6S1 — Q8NH40 (reviewed: Q8NH40)

Alternative names: Olfactory receptor OR14-37

All UniProt accessions (1): Q8NH40

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_001001968* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-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-Q8NH40-F1	86.29	0.51

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): 99–182

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: 21 (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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF768_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

104 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6S1	S4R3Q2	S4R3Q2	695
OR6S1	ZNF233	A6NK53	599
OR6S1	DEPDC4	Q8N2C3	599
OR6S1	ZNF439	Q8NDP4	583
OR6S1	ZNF773	Q6PK81	581
OR6S1	ZNF227	Q86WZ6	570
OR6S1	VSTM2B	A6NLU5	506
OR6S1	ZNF177	Q13360	474
OR6S1	ZNF93	P35789	448
OR6S1	CCDC181	Q5TID7	447
OR6S1	BEND4	Q6ZU67	445
OR6S1	DPEP2	Q9H4A9	400
OR6S1	ELAPOR1	Q6UXG2	399
OR6S1	DCAF15	Q66K64	380
OR6S1	C1QL3	Q5VWW1	370

IntAct

0 interactions, top by confidence:

BioGRID (1): OR6S1 (Affinity Capture-MS)

ESM2 similar proteins: A6NM03, O14581, O76099, O95006, O95222, O95371, P23270, P34984, P34986, P47881, P47893, P58173, Q15619, Q5JQS5, Q5TZ20, Q60883, Q60889, Q60891, Q60894, Q6IF42, Q6IFH4, Q8N628, Q8NG84, Q8NG98, Q8NGA1, Q8NGC9, Q8NGE9, Q8NGQ2, Q8NGQ6, Q8NGR1, Q8NGR9, Q8NGS0, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX0, Q8NGX8, Q8NGX9, Q8NGY5, Q8NH40

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O43749, O76100, O95006, O95007, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23267, P23269, P23272, P23274, P34984, P58173, P70526, Q13606, Q15619, Q15622, Q6IF82, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N148, Q8N628, Q8NG78, Q8NGA1, Q8NGC2, Q8NGC5, Q8NGE1, Q8NGE2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	50
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2422759	NC_000014.8:g.(?20915399)(22005055_?)del	Pathogenic

SpliceAI

228 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20641609:T:TA	donor_gain	0.9800
14:20641563:G:A	donor_gain	0.9300
14:20641279:A:AC	donor_gain	0.9200
14:20641421:G:A	donor_gain	0.9200
14:20641280:T:C	donor_gain	0.9100
14:20641279:ATGAG:A	donor_gain	0.9000
14:20641442:G:C	donor_gain	0.8600
14:20641560:ATTG:A	donor_gain	0.8600
14:20641618:G:A	donor_gain	0.8500
14:20641610:C:CT	donor_gain	0.8400
14:20641275:A:AC	donor_gain	0.8200
14:20641276:C:CC	donor_gain	0.8200
14:20641488:CAGG:C	donor_gain	0.7900
14:20641610:C:A	donor_gain	0.7900
14:20641269:AGC:A	donor_gain	0.7700
14:20641609:TCC:T	donor_gain	0.7600
14:20641557:CACA:C	donor_gain	0.7300
14:20641559:CA:C	donor_gain	0.7300
14:20641397:A:C	donor_gain	0.7000
14:20641541:C:CT	donor_gain	0.7000
14:20641611:C:CT	donor_gain	0.7000
14:20641613:CT:C	donor_gain	0.6900
14:20641619:CG:C	donor_gain	0.6900
14:20641612:A:AC	donor_gain	0.6800
14:20641613:C:CC	donor_gain	0.6800
14:20641271:C:A	donor_gain	0.6600
14:20641269:AGCC:A	donor_gain	0.6400
14:20641270:G:C	donor_gain	0.6400
14:20641267:ACAGC:A	donor_gain	0.6300
14:20641268:CAGCC:C	donor_gain	0.6300

AlphaMissense

2138 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:20641182:G:C	F170L	0.960
14:20641182:G:T	F170L	0.960
14:20641184:A:G	F170L	0.960
14:20640921:A:C	S257R	0.951
14:20640921:A:T	S257R	0.951
14:20640923:T:G	S257R	0.951
14:20641650:G:C	F14L	0.941
14:20641650:G:T	F14L	0.941
14:20641652:A:G	F14L	0.941
14:20641651:A:C	F14C	0.933
14:20641147:C:G	C182S	0.923
14:20641148:A:T	C182S	0.923
14:20641149:G:C	F181L	0.923
14:20641149:G:T	F181L	0.923
14:20641151:A:G	F181L	0.923
14:20641332:C:A	M120I	0.923
14:20641332:C:G	M120I	0.923
14:20641332:C:T	M120I	0.923
14:20641477:T:A	E72V	0.921
14:20641350:G:C	F114L	0.917
14:20641350:G:T	F114L	0.917
14:20641352:A:G	F114L	0.917
14:20641152:G:C	F180L	0.912
14:20641152:G:T	F180L	0.912
14:20641154:A:G	F180L	0.912
14:20641321:C:G	R124P	0.909
14:20641474:A:T	I73K	0.909
14:20641147:C:T	C182Y	0.906
14:20640825:A:C	N289K	0.903
14:20640825:A:T	N289K	0.903

dbSNP variants (sampled 300 via entrez): RS1000607330 (14:20642132 C>G), RS1001202086 (14:20640297 A>G), RS1001648091 (14:20643315 T>G), RS1002206469 (14:20641438 C>A,T), RS1003214222 (14:20642766 G>A,C), RS1003904957 (14:20642471 C>G,T), RS1004538521 (14:20642723 C>G,T), RS1006011092 (14:20641128 G>T), RS1007296871 (14:20642172 T>C), RS1007510259 (14:20641106 T>C), RS1010143459 (14:20640361 G>A), RS1010195812 (14:20640558 C>T), RS1010505301 (14:20641058 A>C), RS1012204125 (14:20643052 A>G), RS1013830824 (14:20643523 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:613179

GenCC curated gene-disease

Mondo (1): purine nucleoside phosphorylase deficiency (MONDO:0013171)

Orphanet (1): Purine nucleoside phosphorylase deficiency (Orphanet:760)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562587	Purine Nucleoside Phosphorylase Deficiency (supp.)

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
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cadmium	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00008450	PHASE1	COMPLETED	Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders