OR4L1

Summary

OR4L1 (olfactory receptor family 4 subfamily L member 1, HGNC:15356) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 4L1 (Q8NH43). 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 122742 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001004717

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15356
Approved symbol	OR4L1
Name	olfactory receptor family 4 subfamily L member 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176246
Ensembl biotype	protein_coding
Entrez	122742

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000315683

RefSeq mRNA: 1 — MANE Select: NM_001004717 NM_001004717

CCDS: CCDS32029

Canonical transcript exons

ENST00000315683 — 1 exons

Exon	Start	End
ENSE00001254388	20060045	20060983

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 86.33.

Top tissues by expression

127 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	86.33	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
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	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
liver	UBERON:0002107	28.04	gold quality
monocyte	CL:0000576	27.73	gold quality
leukocyte	CL:0000738	27.72	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.06	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
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.87	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	24.02	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

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4l1	ENSMUSG00000093825
mus_musculus	Or4l15	ENSMUSG00000096254
rattus_norvegicus	Or4l1	ENSRNOG00000012491

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

Protein

Protein identifiers

Olfactory receptor 4L1 — Q8NH43 (reviewed: Q8NH43)

Alternative names: Olfactory receptor 4L2, Olfactory receptor OR14-28

All UniProt accessions (1): Q8NH43

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_001004717* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050427	Olfactory_Receptors	Family

Pfam: PF13853

UniProt features (27 total): topological domain 8, sequence variant 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH43-F1	85.45	0.44

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 (2): 5, 268

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 19 (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, RAO_BOUND_BY_SALL4_ISOFORM_A, HMGA1_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4L1	NBPF19	A0A087WUL8	580
OR4L1	FRG2B	Q96QU4	573
OR4L1	FAM171B	Q6P995	508
OR4L1	POMZP3	Q6PJE2	507
OR4L1	HRCT1	Q6UXD1	490
OR4L1	GOLGA6L2	Q8N9W4	445
OR4L1	UBXN11	Q5T124	434
OR4L1	NOL4L	Q96MY1	369
OR4L1	GPRIN2	O60269	348
OR4L1	RND2	P52198	306
OR4L1	MDN1	Q9NU22	294
OR4L1	MUC3A	Q02505	293
OR4L1	EIF1AX	P47813	267
OR4L1	TMEM233	B4DJY2	266
OR4L1	RND1	Q92730	265

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4L1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NCV1, O95221, P0C7N1, P0C7N5, Q60881, Q60888, Q6IEU7, Q8NGA8, Q8NGB6, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD4, Q8NGD5, Q8NGE8, Q8NGF8, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGM9, Q8NGP8, Q8NGP9, Q8NGS9, Q8NGT0, Q8NH01, Q8NH10, Q8NH18, Q8NH21, Q8NH41, Q8NH42, Q8NH43, Q8NH49, Q8NH69, Q8NH85, Q8VEW5, Q8VF65, Q8VFD3

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

119 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20060196:G:GG	donor_gain	0.7100
14:20060407:CAGG:C	donor_loss	0.6200
14:20060408:AGG:A	donor_loss	0.6200
14:20060409:GGTA:G	donor_loss	0.6200
14:20060410:GTAT:G	donor_loss	0.6200
14:20060411:T:A	donor_loss	0.6200
14:20060192:ACAT:A	donor_gain	0.5400
14:20060195:T:G	donor_gain	0.5400
14:20060191:GACAT:G	donor_gain	0.5200
14:20060410:G:GG	donor_gain	0.5100
14:20060700:T:G	acceptor_gain	0.5100
14:20060699:A:AG	acceptor_gain	0.4900
14:20060595:T:TA	acceptor_gain	0.4400
14:20060199:G:A	donor_gain	0.4200
14:20060412:ATGTA:A	donor_loss	0.4200
14:20060699:ATT:A	acceptor_gain	0.4200
14:20060405:GACAG:G	donor_gain	0.4100
14:20060154:C:CG	donor_gain	0.3800
14:20060269:T:A	acceptor_gain	0.3700
14:20060275:A:AG	acceptor_gain	0.3600
14:20060872:A:AG	acceptor_gain	0.3600
14:20060873:G:GG	acceptor_gain	0.3600
14:20060407:CAG:C	donor_gain	0.3500
14:20060413:T:TC	donor_loss	0.3500
14:20060193:CAT:C	donor_loss	0.3400
14:20060195:TGT:T	donor_loss	0.3400
14:20060196:G:GA	donor_loss	0.3400
14:20060197:TA:T	donor_loss	0.3400
14:20060198:A:C	donor_loss	0.3400
14:20060199:G:GC	donor_loss	0.3400

AlphaMissense

2064 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:20060078:T:C	F12L	0.863
14:20060080:T:A	F12L	0.863
14:20060080:T:G	F12L	0.863
14:20060576:T:C	F178L	0.849
14:20060578:T:A	F178L	0.849
14:20060578:T:G	F178L	0.849
14:20060546:T:C	F168L	0.833
14:20060548:C:A	F168L	0.833
14:20060548:C:G	F168L	0.833
14:20060795:T:C	F251L	0.813
14:20060797:T:A	F251L	0.813
14:20060797:T:G	F251L	0.813
14:20060792:T:C	F250L	0.754
14:20060794:C:A	F250L	0.754
14:20060794:C:G	F250L	0.754
14:20060135:T:C	F31L	0.741
14:20060137:T:A	F31L	0.741
14:20060137:T:G	F31L	0.741
14:20060675:T:C	F211L	0.704
14:20060677:C:A	F211L	0.704
14:20060677:C:G	F211L	0.704
14:20060516:A:C	S158R	0.703
14:20060518:C:A	S158R	0.703
14:20060518:C:G	S158R	0.703
14:20060348:T:C	F102L	0.691
14:20060350:C:A	F102L	0.691
14:20060350:C:G	F102L	0.691
14:20060079:T:C	F12S	0.675
14:20060651:A:C	S203R	0.667
14:20060653:C:A	S203R	0.667

dbSNP variants (sampled 300 via entrez): RS1000070403 (14:20059705 G>A), RS1002896939 (14:20058045 C>G), RS1003922081 (14:20059375 C>A,T), RS1004357569 (14:20059163 T>A), RS1005170840 (14:20061191 A>T), RS1007159475 (14:20059369 C>A), RS1007191862 (14:20059549 G>A,T), RS1007703871 (14:20059106 T>C), RS1008196809 (14:20058502 G>C), RS1011640208 (14:20058305 T>A), RS1011674728 (14:20058092 G>A), RS10130629 (14:20060368 G>A,T), RS1013645709 (14:20060956 A>G), RS10139558 (14:20060149 C>T), RS10139756 (14:20060322 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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