OR1L4

Summary

OR1L4 (olfactory receptor family 1 subfamily L member 4, HGNC:8216) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1L4 (Q8NGR5). 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 254973 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_001005235

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8216
Approved symbol	OR1L4
Name	olfactory receptor family 1 subfamily L member 4
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	OR9-E
Ensembl gene	ENSG00000136939
Ensembl biotype	protein_coding
Entrez	254973

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000259466

RefSeq mRNA: 1 — MANE Select: NM_001005235 NM_001005235

CCDS: CCDS35129

Canonical transcript exons

ENST00000259466 — 1 exons

Exon	Start	End
ENSE00000927036	122723990	122724925

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 55.78.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	55.78	silver quality
calcaneal tendon	UBERON:0003701	53.82	gold quality
colonic epithelium	UBERON:0000397	48.84	silver quality
corpus callosum	UBERON:0002336	44.76	silver quality
right uterine tube	UBERON:0001302	40.74	silver quality
skeletal muscle tissue	UBERON:0001134	38.71	gold quality
tonsil	UBERON:0002372	38.49	gold quality
bone marrow cell	CL:0002092	38.44	gold quality
granulocyte	CL:0000094	37.94	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle tissue	UBERON:0002385	36.23	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	32.91	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
liver	UBERON:0002107	31.01	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	28.21	gold quality
smooth muscle tissue	UBERON:0001135	28.14	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.61	gold quality
blood	UBERON:0000178	27.60	gold quality
lymph node	UBERON:0000029	27.57	gold quality
superior frontal gyrus	UBERON:0002661	27.37	gold quality
kidney	UBERON:0002113	26.62	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
myometrium	UBERON:0001296	26.33	gold quality
cortex of kidney	UBERON:0001225	26.09	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

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), 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), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1L4 — Q8NGR5 (reviewed: Q8NGR5)

Alternative names: OST046, Olfactory receptor 1L5, Olfactory receptor 9-E, Olfactory receptor OR9-29

All UniProt accessions (1): Q8NGR5

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_001005235* (*=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-Q8NGR5-F1	88.90	0.64

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: 17 (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, SRSF9_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1L4	XKR9	Q5GH70	446
OR1L4	ADGRF3	Q8IZF5	398
OR1L4	SPATA17	Q96L03	374
OR1L4	DUS1L	Q6P1R4	370
OR1L4	TAAR5	O14804	358
OR1L4	KIFC2	Q96AC6	352
OR1L4	GPR31	O00270	296
OR1L4	GPRC5D	Q9NZD1	290
OR1L4	GPR37L1	O60883	289
OR1L4	IPO4	Q8TEX9	278
OR1L4	SORCS2	Q96PQ0	270
OR1L4	ZCWPW2	Q504Y3	247
OR1L4	EPHA8	P29322	241
OR1L4	ADGRB3	O60242	227
OR1L4	RAB29	O14966	224
OR1L4	ABHD6	Q9BV23	224

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O76000, O95007, O95221, P0C626, P0C629, P30955, P37070, P70526, Q15617, Q15620, Q60882, Q60893, Q60895, Q6IEU7, Q8N0Y5, Q8N162, Q8NGE1, Q8NGG4, Q8NGG8, Q8NGH3, Q8NGL1, Q8NGP8, Q8NGP9, Q8NGR5, Q8NGR8, Q8NGS4, Q8NGT1, Q8NGX3, Q8NH01, Q8VEW5, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

395 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122724054:C:CG	donor_gain	0.7800
9:122724165:C:CG	donor_gain	0.7100
9:122724165:C:G	donor_gain	0.7100
9:122724651:A:AG	acceptor_gain	0.7000
9:122724864:GCCT:G	acceptor_gain	0.6900
9:122724652:A:G	acceptor_gain	0.6800
9:122724054:C:G	donor_gain	0.6700
9:122724328:C:G	donor_gain	0.6700
9:122724394:G:GA	donor_gain	0.6700
9:122724059:C:G	donor_gain	0.6500
9:122724116:A:T	donor_gain	0.6400
9:122724154:GC:G	donor_gain	0.6200
9:122724243:A:G	donor_gain	0.6200
9:122724093:T:G	donor_gain	0.6100
9:122724098:C:G	donor_gain	0.5900
9:122724172:C:CG	donor_gain	0.5900
9:122724863:A:AG	acceptor_gain	0.5900
9:122724864:G:GG	acceptor_gain	0.5900
9:122724168:T:G	donor_gain	0.5800
9:122724104:ACTGC:A	donor_gain	0.5700
9:122724114:GGAA:G	donor_gain	0.5700
9:122724363:T:TA	donor_gain	0.5700
9:122724398:A:AG	donor_gain	0.5700
9:122724097:C:CG	donor_gain	0.5600
9:122724169:G:GG	donor_gain	0.5600
9:122724716:G:GA	donor_gain	0.5600
9:122724750:G:GT	donor_gain	0.5600
9:122724111:TGGGG:T	donor_gain	0.5500
9:122724697:G:GT	donor_gain	0.5500
9:122724359:C:T	donor_gain	0.5400

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122724026:T:C	F13L	0.929
9:122724028:C:A	F13L	0.929
9:122724028:C:G	F13L	0.929
9:122724494:T:C	F169L	0.919
9:122724496:C:A	F169L	0.919
9:122724496:C:G	F169L	0.919
9:122724752:A:C	S255R	0.886
9:122724754:T:A	S255R	0.886
9:122724754:T:G	S255R	0.886
9:122724521:T:C	F178L	0.882
9:122724523:T:A	F178L	0.882
9:122724523:T:G	F178L	0.882
9:122724863:A:C	S292R	0.881
9:122724865:C:A	S292R	0.881
9:122724865:C:G	S292R	0.881
9:122724743:T:C	F252L	0.849
9:122724745:C:A	F252L	0.849
9:122724745:C:G	F252L	0.849
9:122724326:A:C	S113R	0.831
9:122724328:C:A	S113R	0.831
9:122724328:C:G	S113R	0.831
9:122724074:T:C	F29L	0.813
9:122724076:T:A	F29L	0.813
9:122724076:T:G	F29L	0.813
9:122724083:T:C	F32L	0.808
9:122724085:C:A	F32L	0.808
9:122724085:C:G	F32L	0.808
9:122724357:G:C	R123P	0.799
9:122724346:G:A	M119I	0.795
9:122724346:G:C	M119I	0.795

dbSNP variants (sampled 300 via entrez): RS1001085836 (9:122724781 G>A,T), RS1001370041 (9:122724220 C>A,T), RS1002599131 (9:122723078 T>C), RS1002935883 (9:122722829 T>A), RS1003956508 (9:122723930 A>C,G), RS1004903544 (9:122724101 C>G,T), RS1005513015 (9:122722109 C>A,T), RS1006675599 (9:122722016 G>A), RS1007783869 (9:122722712 A>G), RS1008124718 (9:122722258 A>G), RS1008714792 (9:122723765 A>C), RS1012238547 (9:122724756 T>A), RS1012568006 (9:122723336 A>C), RS1012872908 (9:122723148 T>C,G), RS1014010609 (9:122723356 G>A,C,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

2 associations (top):

Study	Trait	p-value
GCST009384_10	Longitudinal cocaine use	9.000000e-06
GCST009384_4	Longitudinal cocaine use	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010553	cocaine use measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	increases expression	1
Acetaminophen	decreases expression	1
Valproic Acid	decreases methylation	1
Lactic Acid	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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