OR1L8

Summary

OR1L8 (olfactory receptor family 1 subfamily L member 8, HGNC:15110) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1L8 (Q8NGR8). 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 138881 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total — 1 pathogenic
• MANE Select transcript: NM_001004454

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15110
Approved symbol	OR1L8
Name	olfactory receptor family 1 subfamily L member 8
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171496
Ensembl biotype	protein_coding
Entrez	138881

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641027

RefSeq mRNA: 1 — MANE Select: NM_001004454 NM_001004454

CCDS: CCDS35124

Canonical transcript exons

ENST00000641027 — 5 exons

Exon	Start	End
ENSE00003811744	122578324	122578445
ENSE00003812854	122576766	122576901
ENSE00003813266	122567117	122568689
ENSE00003813288	122583321	122583384
ENSE00003813682	122572780	122572908

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 74.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.49	silver quality
mucosa of stomach	UBERON:0001199	51.99	gold quality
calcaneal tendon	UBERON:0003701	51.50	silver quality
stromal cell of endometrium	CL:0002255	49.16	gold quality
endometrium	UBERON:0001295	49.12	silver quality
tibial nerve	UBERON:0001323	47.94	gold quality
urinary bladder	UBERON:0001255	47.72	gold quality
right coronary artery	UBERON:0001625	47.65	gold quality
tibial artery	UBERON:0007610	47.03	gold quality
popliteal artery	UBERON:0002250	46.97	gold quality
subcutaneous adipose tissue	UBERON:0002190	46.76	gold quality
spleen	UBERON:0002106	46.04	gold quality
superior frontal gyrus	UBERON:0002661	45.62	silver quality
right lung	UBERON:0002167	45.53	gold quality
lymph node	UBERON:0000029	45.38	gold quality
body of uterus	UBERON:0009853	45.20	gold quality
smooth muscle tissue	UBERON:0001135	44.91	gold quality
endocervix	UBERON:0000458	44.60	gold quality
lower esophagus mucosa	UBERON:0035834	44.60	silver quality
placenta	UBERON:0001987	44.45	silver quality
myometrium	UBERON:0001296	44.32	gold quality
cortical plate	UBERON:0005343	44.26	silver quality
fallopian tube	UBERON:0003889	43.97	gold quality
thoracic mammary gland	UBERON:0005200	43.89	gold quality
ganglionic eminence	UBERON:0004023	43.72	gold quality
adipose tissue	UBERON:0001013	43.39	gold quality
fundus of stomach	UBERON:0001160	43.26	silver quality
bone marrow cell	CL:0002092	43.25	gold quality
gall bladder	UBERON:0002110	42.87	gold quality
muscle layer of sigmoid colon	UBERON:0035805	42.55	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.93

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Or1l8	ENSRNOG00000029787

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), 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 1L8 — Q8NGR8 (reviewed: Q8NGR8)

Alternative names: Olfactory receptor OR9-24

All UniProt accessions (2): Q8NGR8, A0A126GVC5

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_001004454* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGR8-F1	86.50	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): 98–190

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: 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 (5): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of chemical stimulus (GO:0007606), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

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	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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

100 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1L8	FOXD4L6	Q3SYB3	579
OR1L8	ORMDL2	Q53FV1	571
OR1L8	ZNF684	Q5T5D7	543
OR1L8	FBXO48	Q5FWF7	511
OR1L8	NUP62CL	Q9H1M0	501
OR1L8	ZNF793	Q6ZN11	478
OR1L8	ZNF616	Q08AN1	475
OR1L8	BHLHA9	Q7RTU4	446
OR1L8	ZNF611	Q8N823	445
OR1L8	USP17L19	D6RCP7	435
OR1L8	USP17L15	C9J2P7	432
OR1L8	ZNF18	P17022	431
OR1L8	CCDC127	Q96BQ5	401
OR1L8	KLHL5	Q96PQ7	380
OR1L8	ZNF304	Q9HCX3	358

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O95221, P0C7N1, P0C7N5, P37070, P37071, P37072, Q15617, Q60886, Q6IEU7, Q8N127, Q8NGE1, Q8NGG0, Q8NGG8, Q8NGP8, Q8NGP9, Q8NGR8, Q8NGS9, Q8NGT0, Q8NGT1, Q8NGX3, Q8NH01, Q8NH10, Q8NH51, Q8NH69, Q8VEW5, Q8VF65, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2, Q8VG02, Q8VG03, Q8VG04, Q8VG07

Diamond homologs: A0A3B3IT45, A4D2G3, A6NGY5, A6NMU1, A6NND4, O43749, O88628, P0C646, P0C7T3, P23266, P23269, P23273, P23274, P30954, P34982, P34984, P70526, Q15619, Q60884, Q60892, Q6IF63, Q6IFG1, Q6W049, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	Pathogenic

SpliceAI

328 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122567817:G:GC	acceptor_gain	0.8300
9:122568352:C:A	donor_gain	0.8000
9:122567816:C:CT	acceptor_gain	0.7800
9:122567802:C:CC	acceptor_gain	0.7500
9:122567819:A:AC	acceptor_gain	0.7500
9:122567602:CAGG:C	acceptor_gain	0.7200
9:122567606:C:CC	acceptor_gain	0.7200
9:122567717:C:A	donor_gain	0.7000
9:122567807:G:GC	acceptor_gain	0.7000
9:122567817:G:C	acceptor_gain	0.7000
9:122567821:A:C	acceptor_gain	0.7000
9:122568301:A:AC	donor_gain	0.7000
9:122568412:AGG:A	donor_gain	0.6900
9:122567690:GG:G	acceptor_gain	0.6800
9:122567870:T:TA	donor_gain	0.6800
9:122567729:G:GC	donor_gain	0.6700
9:122567734:CACGG:C	donor_gain	0.6600
9:122568187:C:CA	donor_gain	0.6600
9:122568302:G:C	donor_gain	0.6600
9:122567687:GGGGG:G	acceptor_gain	0.6500
9:122567716:T:TA	donor_gain	0.6500
9:122567799:GAA:G	acceptor_gain	0.6500
9:122567821:A:AC	acceptor_gain	0.6500
9:122567692:C:CC	acceptor_gain	0.6400
9:122567728:CG:C	donor_gain	0.6400
9:122567689:GGG:G	acceptor_gain	0.6200
9:122567776:C:A	donor_gain	0.6200
9:122567804:G:C	acceptor_gain	0.6200
9:122567807:G:C	acceptor_gain	0.6200
9:122567819:A:C	acceptor_gain	0.6200

AlphaMissense

2033 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122568439:A:C	F13L	0.849
9:122568439:A:T	F13L	0.849
9:122568441:A:G	F13L	0.849
9:122567971:G:C	F169L	0.775
9:122567971:G:T	F169L	0.775
9:122567973:A:G	F169L	0.775
9:122567944:A:C	F178L	0.668
9:122567944:A:T	F178L	0.668
9:122567946:A:G	F178L	0.668
9:122568391:A:C	F29L	0.636
9:122568391:A:T	F29L	0.636
9:122568393:A:G	F29L	0.636
9:122568382:G:C	F32L	0.631
9:122568382:G:T	F32L	0.631
9:122568384:A:G	F32L	0.631
9:122567761:G:C	F239L	0.598
9:122567761:G:T	F239L	0.598
9:122567763:A:G	F239L	0.598
9:122567722:A:C	F252L	0.584
9:122567722:A:T	F252L	0.584
9:122567724:A:G	F252L	0.584
9:122568440:A:G	F13S	0.580

dbSNP variants (sampled 300 via entrez): RS1000002481 (9:122569144 C>G,T), RS1000033923 (9:122564407 G>A,T), RS1000049242 (9:122575730 A>G), RS1000177500 (9:122566941 A>G), RS1000204602 (9:122573176 C>G), RS1000246798 (9:122563434 T>C), RS1000357373 (9:122546617 G>A,T), RS1000368121 (9:122580989 C>G,T), RS1000487913 (9:122572955 C>T), RS1000571140 (9:122552462 A>C), RS1000619350 (9:122559083 T>C), RS1000683499 (9:122575465 G>T), RS1000711586 (9:122578007 G>C), RS1000714414 (9:122567407 G>T), RS1000755278 (9:122559306 A>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	1
Atrazine	increases expression	1
Cadmium	decreases expression	1
Oxygen	increases expression	1
Aflatoxin B1	increases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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