OR11L1

Summary

OR11L1 (olfactory receptor family 11 subfamily L member 1, HGNC:14998) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 11L1 (Q8NGX0). 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 391189 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 49 total — 1 pathogenic
• MANE Select transcript: NM_001001959

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14998
Approved symbol	OR11L1
Name	olfactory receptor family 11 subfamily L member 1
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197591
Ensembl biotype	protein_coding
Entrez	391189

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000355784

RefSeq mRNA: 1 — MANE Select: NM_001001959 NM_001001959

CCDS: CCDS31098

Canonical transcript exons

ENST00000355784 — 1 exons

Exon	Start	End
ENSE00001278495	247840928	247841896

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 43.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	43.49	gold quality
right lobe of thyroid gland	UBERON:0001119	38.56	silver quality
bone marrow cell	CL:0002092	38.45	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
thyroid gland	UBERON:0002046	35.65	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
left lobe of thyroid gland	UBERON:0001120	34.43	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.91	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
monocyte	CL:0000576	31.22	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
leukocyte	CL:0000738	30.90	gold quality
right uterine tube	UBERON:0001302	30.58	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.34	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
tonsil	UBERON:0002372	28.70	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
blood	UBERON:0000178	26.74	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
calcaneal tendon	UBERON:0003701	25.24	gold quality
muscle of leg	UBERON:0001383	25.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or11l3	ENSMUSG00000043880
rattus_norvegicus	Or11l3	ENSRNOG00000073000

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 11L1 — Q8NGX0 (reviewed: Q8NGX0)

All UniProt accessions (1): Q8NGX0

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_001001959* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050939	Olfactory_GPCR1	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-Q8NGX0-F1	88.35	0.66

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): 97–189

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: 20 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr1q44, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, 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, MANNE_COVID19_NONICU_VS_HEALTHY_DONOR_PLATELETS_DN, MANNE_COVID19_COMBINED_COHORT_VS_HEALTHY_DONOR_PLATELETS_DN, REACTOME_OLFACTORY_SIGNALING_PATHWAY

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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

GO Cellular Component (3): plasma membrane (GO:0005886), extracellular exosome (GO:0070062), 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
binding	1
membrane	1
cell periphery	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

174 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR11L1	RNF180	Q86T96	593
OR11L1	TLCD5	Q6ZRR5	505
OR11L1	KRTAP5-7	Q6L8G8	480
OR11L1	KRTAP5-10	Q6L8G5	475
OR11L1	FMN1	Q68DA7	450
OR11L1	CADM2	Q8N3J6	445
OR11L1	SORBS2	O94875	427
OR11L1	KRTAP5-11	Q6L8G4	419
OR11L1	KRTAP5-5	Q701N2	418
OR11L1	TNIK	Q9UKE5	417
OR11L1	PRDM12	Q9H4Q4	411
OR11L1	DMAC2	Q9NW81	408
OR11L1	VPS37D	Q86XT2	400
OR11L1	FGF14	Q92915	399
OR11L1	RSRC1	Q96IZ7	380

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	44
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	Pathogenic

SpliceAI

297 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247841057:CACAG:C	acceptor_gain	0.9500
1:247841061:G:GC	acceptor_gain	0.7600
1:247841063:G:C	acceptor_gain	0.7600
1:247841323:CT:C	acceptor_gain	0.7400
1:247841059:CAG:C	acceptor_gain	0.7300
1:247841223:A:C	acceptor_gain	0.6900
1:247841252:CAG:C	acceptor_gain	0.6500
1:247841061:G:C	acceptor_gain	0.6400
1:247841251:CCAG:C	acceptor_gain	0.6200
1:247841253:A:T	acceptor_gain	0.6100
1:247841060:A:T	acceptor_gain	0.6000
1:247841219:CAATA:C	acceptor_gain	0.5900
1:247841325:C:CC	acceptor_gain	0.5900
1:247841140:C:CT	acceptor_gain	0.5800
1:247841231:C:CT	acceptor_gain	0.5800
1:247841258:C:CT	acceptor_gain	0.5800
1:247841063:G:GC	acceptor_gain	0.5700
1:247841603:CA:C	acceptor_gain	0.5600
1:247841688:T:TA	donor_gain	0.5600
1:247841259:A:T	acceptor_gain	0.5500
1:247841223:A:AC	acceptor_gain	0.5300
1:247841464:CCAA:C	donor_loss	0.5300
1:247841465:CAA:C	donor_loss	0.5300
1:247841466:AACCT:A	donor_loss	0.5300
1:247841467:A:C	donor_loss	0.5300
1:247841468:C:T	donor_loss	0.5300
1:247841469:C:G	donor_loss	0.5300
1:247841753:CACGG:C	donor_gain	0.5300
1:247841250:CCCAG:C	acceptor_gain	0.5200
1:247841684:G:T	donor_gain	0.5200

AlphaMissense

2103 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:247841393:G:C	F168L	0.921
1:247841393:G:T	F168L	0.921
1:247841395:A:G	F168L	0.921
1:247841861:A:C	F12L	0.898
1:247841861:A:T	F12L	0.898
1:247841863:A:G	F12L	0.898
1:247841366:G:C	F177L	0.886
1:247841366:G:T	F177L	0.886
1:247841368:A:G	F177L	0.886
1:247841846:G:C	F17L	0.874
1:247841846:G:T	F17L	0.874
1:247841848:A:G	F17L	0.874
1:247841024:G:C	S291R	0.850
1:247841024:G:T	S291R	0.850
1:247841026:T:G	S291R	0.850
1:247841813:A:C	F28L	0.837
1:247841813:A:T	F28L	0.837
1:247841815:A:G	F28L	0.837
1:247841363:G:C	F178L	0.836
1:247841363:G:T	F178L	0.836
1:247841365:A:G	F178L	0.836
1:247841862:A:C	F12C	0.826
1:247841435:G:C	S154R	0.822
1:247841435:G:T	S154R	0.822
1:247841437:T:G	S154R	0.822
1:247841183:A:C	F238L	0.819
1:247841183:A:T	F238L	0.819
1:247841185:A:G	F238L	0.819
1:247841862:A:G	F12S	0.806
1:247841661:G:T	P79H	0.801

dbSNP variants (sampled 300 via entrez): RS1000779934 (1:247842681 G>A), RS1002631395 (1:247842864 TTGTGTGTGTGTGTTTG>T), RS1005195301 (1:247842077 T>C), RS1005637744 (1:247842417 C>T), RS1006231240 (1:247841129 G>A,C), RS1006614129 (1:247840829 A>G), RS1006898001 (1:247843821 C>G), RS1007276362 (1:247843560 T>C), RS1008707957 (1:247842920 T>A), RS1009809695 (1:247842282 A>G), RS1009863796 (1:247842460 C>T), RS1010146670 (1:247843544 G>T), RS1012010289 (1:247842442 T>A,C), RS1013478261 (1:247841180 G>A,T), RS1016034341 (1:247841231 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004616_125	Platelet distribution width	4.000000e-17
GCST005550_1	Post traumatic stress disorder symptom count in trauma-exposed individuals	2.000000e-06
GCST006879_25	Blood metabolite levels	9.000000e-16
GCST009391_735	Metabolite levels	3.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007984	platelet component distribution width
EFO:0008483	response to trauma exposure
EFO:0008535	post-traumatic stress disorder symptom measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	increases methylation	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice