OR1L1

Summary

OR1L1 (olfactory receptor family 1 subfamily L member 1, HGNC:8213) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1L1 (Q8NH94). 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 26737 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001005236

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8213
Approved symbol	OR1L1
Name	olfactory receptor family 1 subfamily L member 1
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	OR9-C
Ensembl gene	ENSG00000173679
Ensembl biotype	protein_coding
Entrez	26737

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000309623, ENST00000373686

RefSeq mRNA: 1 — MANE Select: NM_001005236 NM_001005236

CCDS: CCDS35127

Canonical transcript exons

ENST00000309623 — 1 exons

Exon	Start	End
ENSE00001167145	122661716	122662648

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 80.48.

Top tissues by expression

114 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	80.48	silver quality
bone marrow cell	CL:0002092	40.95	gold quality
tonsil	UBERON:0002372	38.18	gold quality
granulocyte	CL:0000094	38.02	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
skeletal muscle tissue	UBERON:0001134	34.82	gold quality
urinary bladder	UBERON:0001255	34.63	gold quality
bone marrow	UBERON:0002371	34.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	32.12	gold quality
leukocyte	CL:0000738	31.16	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
monocyte	CL:0000576	30.85	gold quality
right coronary artery	UBERON:0001625	30.16	silver quality
liver	UBERON:0002107	29.94	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
duodenum	UBERON:0002114	28.14	gold quality
endometrium	UBERON:0001295	27.98	gold quality
lymph node	UBERON:0000029	27.57	gold quality
corpus callosum	UBERON:0002336	27.42	gold quality
blood	UBERON:0000178	26.81	gold quality
right lung	UBERON:0002167	26.75	gold quality
islet of Langerhans	UBERON:0000006	26.55	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

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.14

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), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1L1 — Q8NH94 (reviewed: Q8NH94)

Alternative names: Olfactory receptor 1L2, Olfactory receptor 9-C, Olfactory receptor OR9-27

All UniProt accessions (2): Q8NH94, A0A0B4J1S0

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_001005236* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 4, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH94-F1	81.34	0.49

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): 147–239

Glycosylation sites (2): 55, 315

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, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, PEDRIOLI_MIR31_TARGETS_DN, 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

150 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1L1	ZNF280A	P59817	496
OR1L1	SLC22A31	A6NKX4	483
OR1L1	IFIT5	Q13325	478
OR1L1	ZNF276	Q8N554	474
OR1L1	CCIN	Q13939	447
OR1L1	TRAPPC2L	Q9UL33	430
OR1L1	ACSF3	Q4G176	390
OR1L1	CPNE7	Q9UBL6	376
OR1L1	ACTL7B	Q9Y614	372
OR1L1	GALNS	P34059	312
OR1L1	MROH8	Q9H579	310
OR1L1	ANKRD11	Q6UB99	302
OR1L1	DNAJC27	Q9NZQ0	289
OR1L1	SPATS2L	Q9NUQ6	287
OR1L1	SPRY3	O43610	272

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

238 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122662372:A:AG	acceptor_gain	0.6900
9:122662373:A:G	acceptor_gain	0.6800
9:122662374:G:GG	acceptor_gain	0.6600
9:122662393:GAAGA:G	acceptor_gain	0.6500
9:122662483:C:G	donor_gain	0.6500
9:122662392:TGAAG:T	acceptor_gain	0.6400
9:122662417:GC:G	donor_gain	0.6400
9:122662252:C:CA	acceptor_gain	0.6300
9:122662583:A:AG	acceptor_gain	0.6300
9:122662584:G:GG	acceptor_gain	0.6300
9:122662310:G:GG	donor_gain	0.6200
9:122661891:T:G	donor_gain	0.6100
9:122662461:C:G	donor_gain	0.6100
9:122662309:A:AG	donor_gain	0.6000
9:122662414:A:T	donor_gain	0.6000
9:122662460:ACCCT:A	donor_gain	0.6000
9:122662374:GA:G	acceptor_gain	0.5900
9:122661902:C:CG	donor_gain	0.5700
9:122662419:G:GG	donor_gain	0.5700
9:122662290:A:AG	acceptor_gain	0.5600
9:122661833:A:AG	donor_gain	0.5500
9:122662394:AAGA:A	acceptor_gain	0.5500
9:122661895:C:CG	donor_gain	0.5400
9:122661999:G:GG	donor_gain	0.5400
9:122662291:T:G	acceptor_gain	0.5400
9:122662294:T:TA	acceptor_gain	0.5400
9:122662300:A:G	acceptor_gain	0.5400
9:122662455:T:A	donor_gain	0.5400
9:122662455:T:TA	donor_gain	0.5400
9:122662584:GTCT:G	acceptor_gain	0.5400

AlphaMissense

2039 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122661749:T:C	F62L	0.971
9:122661751:C:A	F62L	0.971
9:122661751:C:G	F62L	0.971
9:122662080:G:C	R172P	0.956
9:122661750:T:C	F62S	0.948
9:122662049:A:C	S162R	0.947
9:122662051:T:A	S162R	0.947
9:122662051:T:G	S162R	0.947
9:122662069:G:A	M168I	0.945
9:122662069:G:C	M168I	0.945
9:122662069:G:T	M168I	0.945
9:122662583:A:C	S340R	0.945
9:122662585:T:A	S340R	0.945
9:122662585:T:G	S340R	0.945
9:122662475:A:C	S304R	0.944
9:122662477:C:A	S304R	0.944
9:122662477:C:G	S304R	0.944
9:122662217:T:C	F218L	0.942
9:122662219:C:A	F218L	0.942
9:122662219:C:G	F218L	0.942
9:122662092:T:A	I176K	0.941
9:122662077:A:T	D171V	0.930
9:122662077:A:C	D171A	0.926
9:122661750:T:G	F62C	0.924
9:122662015:G:C	Q150H	0.923
9:122662015:G:T	Q150H	0.923
9:122662377:T:C	I271T	0.923
9:122662250:T:A	C229S	0.921
9:122662251:G:C	C229S	0.921
9:122662466:T:C	F301L	0.921

dbSNP variants (sampled 300 via entrez): RS1000157774 (9:122660437 G>A), RS1000435348 (9:122662946 C>A,T), RS1003603201 (9:122659855 C>T), RS1003686256 (9:122663069 C>A), RS1003770909 (9:122660024 C>T), RS1004317010 (9:122660933 G>A), RS1004432639 (9:122662789 T>A), RS1006124073 (9:122659819 A>G), RS1006997637 (9:122662428 T>A,C), RS1007376012 (9:122662627 G>A), RS1007528390 (9:122660808 G>A,T), RS1010870658 (9:122660058 G>A), RS1011181833 (9:122662800 T>C,G), RS1011567735 (9:122663008 G>A), RS1012333918 (9:122661355 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

1 associations (top):

Study	Trait	p-value
GCST008674_16	Glycemic traits (pleiotropy)	4.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004469	HOMA-B

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
bisphenol A	increases expression	1
CGP 52608	affects binding, increases reaction	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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