OR1L6

Summary

OR1L6 (olfactory receptor family 1 subfamily L member 6, HGNC:8218) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1L6 (Q8NGR2). 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 392390 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_001004453

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8218
Approved symbol	OR1L6
Name	olfactory receptor family 1 subfamily L member 6
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171459
Ensembl biotype	protein_coding
Entrez	392390

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000304720, ENST00000373684

RefSeq mRNA: 1 — MANE Select: NM_001004453 NM_001004453

CCDS: CCDS35130

Canonical transcript exons

ENST00000304720 — 2 exons

Exon	Start	End
ENSE00001167043	122749835	122750783
ENSE00003813318	122742303	122742373

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 55.25.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	55.25	silver quality
colonic epithelium	UBERON:0000397	46.62	gold quality
calcaneal tendon	UBERON:0003701	46.13	silver quality
bone marrow cell	CL:0002092	46.12	gold quality
tonsil	UBERON:0002372	38.03	gold quality
bone marrow	UBERON:0002371	36.83	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
skeletal muscle tissue	UBERON:0001134	35.02	gold quality
corpus callosum	UBERON:0002336	34.66	gold quality
urinary bladder	UBERON:0001255	32.37	gold quality
muscle tissue	UBERON:0002385	32.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
liver	UBERON:0002107	31.56	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.79	gold quality
right coronary artery	UBERON:0001625	27.60	gold quality
lymph node	UBERON:0000029	27.57	gold quality
uterine cervix	UBERON:0000002	27.55	gold quality
islet of Langerhans	UBERON:0000006	26.95	gold quality
leukocyte	CL:0000738	26.56	gold quality
monocyte	CL:0000576	26.46	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
placenta	UBERON:0001987	25.81	gold quality
myometrium	UBERON:0001296	25.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.47

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), 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), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1L6 — Q8NGR2 (reviewed: Q8NGR2)

Alternative names: Olfactory receptor 1L7, Olfactory receptor OR9-30

All UniProt accessions (2): A0A0C4DFP2, Q8NGR2

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_001004453* (*=MANE)

Domains & families (InterPro)

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

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-Q8NGR2-F1	85.43	0.50

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): 134–226

Glycosylation sites (1): 41

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, chr9q33

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

122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1L6	SSX3	Q99909	434
OR1L6	COMMD10	Q9Y6G5	431
OR1L6	SRPK3	Q9UPE1	400
OR1L6	GPRIN1	Q7Z2K8	398
OR1L6	ZNF772	Q68DY9	390
OR1L6	FAM221A	A4D161	367
OR1L6	HEATR9	A2RTY3	320
OR1L6	C17orf78	Q8N4C9	311
OR1L6	AMZ1	Q400G9	310
OR1L6	UBQLN4	Q9NRR5	303
OR1L6	BMP8A	Q7Z5Y6	296
OR1L6	CCDC57	Q2TAC2	288
OR1L6	FASTKD3	Q14CZ7	281
OR1L6	RFX5	P48382	278
OR1L6	ZNF232	Q9UNY5	275

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: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

201 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122750608:G:GT	donor_gain	0.9400
9:122750549:G:GT	donor_gain	0.9200
9:122750549:G:T	donor_gain	0.9200
9:122750608:G:T	donor_gain	0.8400
9:122750555:G:GT	donor_gain	0.8000
9:122750591:A:AG	donor_gain	0.7900
9:122750592:G:GG	donor_gain	0.7900
9:122750722:GCCT:G	acceptor_gain	0.7800
9:122750721:A:AG	acceptor_gain	0.7600
9:122750722:G:GG	acceptor_gain	0.7600
9:122750593:T:TA	donor_gain	0.7500
9:122750594:A:AA	donor_gain	0.7500
9:122750611:G:GG	donor_gain	0.6800
9:122750023:C:G	donor_gain	0.6700
9:122750252:G:GA	donor_gain	0.6600
9:122750023:C:CG	donor_gain	0.6500
9:122750610:A:AG	donor_gain	0.6500
9:122750722:GC:G	acceptor_gain	0.6500
9:122750444:G:GA	donor_gain	0.6400
9:122750614:T:TG	donor_gain	0.6400
9:122750574:G:GA	donor_gain	0.6100
9:122750520:ACT:A	donor_gain	0.6000
9:122750721:AGCCT:A	acceptor_gain	0.5900
9:122750722:GCCTG:G	acceptor_gain	0.5900
9:122750519:C:A	donor_gain	0.5800
9:122750589:G:GT	donor_gain	0.5700
9:122749917:C:G	donor_gain	0.5600
9:122749951:T:G	donor_gain	0.5600
9:122750256:A:AG	donor_gain	0.5600
9:122750521:C:G	donor_gain	0.5600

AlphaMissense

2052 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122749884:T:C	F49L	0.952
9:122749886:C:A	F49L	0.952
9:122749886:C:G	F49L	0.952
9:122750352:T:C	F205L	0.952
9:122750354:C:A	F205L	0.952
9:122750354:C:G	F205L	0.952
9:122750610:A:C	S291R	0.913
9:122750612:T:A	S291R	0.913
9:122750612:T:G	S291R	0.913
9:122750379:T:C	F214L	0.910
9:122750381:T:A	F214L	0.910
9:122750381:T:G	F214L	0.910
9:122750385:T:A	C216S	0.899
9:122750386:G:C	C216S	0.899
9:122750601:T:C	F288L	0.889
9:122750603:C:A	F288L	0.889
9:122750603:C:G	F288L	0.889
9:122750184:A:C	S149R	0.885
9:122750186:C:A	S149R	0.885
9:122750186:C:G	S149R	0.885
9:122750386:G:A	C216Y	0.869
9:122750382:T:C	F215L	0.863
9:122750384:C:A	F215L	0.863
9:122750384:C:G	F215L	0.863
9:122750721:A:C	S328R	0.863
9:122750723:C:A	S328R	0.863
9:122750723:C:G	S328R	0.863
9:122750385:T:C	C216R	0.861
9:122749885:T:C	F49S	0.858
9:122750150:G:C	Q137H	0.855

dbSNP variants (sampled 300 via entrez): RS1000183840 (9:122742249 T>C), RS1000196701 (9:122742525 G>A,C), RS1000217843 (9:122749994 C>T), RS1000469600 (9:122743999 A>C), RS1001225235 (9:122751250 C>T), RS1001303082 (9:122744828 A>C,G), RS1002804459 (9:122741882 G>C), RS1003139576 (9:122740549 C>A), RS1003345003 (9:122746522 T>C), RS1003398053 (9:122751167 G>A,C), RS1003404972 (9:122740380 T>C), RS1003763277 (9:122746138 T>C), RS1004055304 (9:122746146 T>C), RS1004072820 (9:122742871 C>A,T), RS1004209567 (9:122743100 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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