OR4X1

Summary

OR4X1 (olfactory receptor family 4 subfamily X member 1, HGNC:14854) is a protein-coding gene on chromosome 11p11.2, encoding Olfactory receptor 4X1 (Q8NH49). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 390113 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_001004726

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14854
Approved symbol	OR4X1
Name	olfactory receptor family 4 subfamily X member 1
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176567
Ensembl biotype	protein_coding
Entrez	390113

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000320048

RefSeq mRNA: 1 — MANE Select: NM_001004726 NM_001004726

CCDS: CCDS31487

Canonical transcript exons

ENST00000320048 — 1 exons

Exon	Start	End
ENSE00001260566	48263861	48264778

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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
sural nerve	UBERON:0015488	36.13	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
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.53	gold quality
monocyte	CL:0000576	27.52	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.89	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.03	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	25.03	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	24.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• study identified novel nSNP in OR4X1 gene (rs10838851, Tyr273Ter*), which is significantly associated with FEV1.0/FVC value in pulmonary function test in a Japanese population (PMID:17964544)
• OR4X1A>T (rs10838851) is not associated with recurrent pregnancy loss in Korean women. (PMID:30203366)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or4x5	ENSMUSG00000082574
rattus_norvegicus	Or4x5	ENSRNOG00000054245

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 4X1 — Q8NH49 (reviewed: Q8NH49)

Alternative names: Olfactory receptor OR11-104

All UniProt accessions (1): Q8NH49

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_001004726* (*=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 (24 total): topological domain 8, transmembrane region 7, sequence variant 5, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH49-F1	88.10	0.53

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): 95–187

Glycosylation sites (2): 6, 18

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, ZNF768_TARGET_GENES, 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

326 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR4X1	C1orf167	Q5SNV9	603
OR4X1	MAGEB16	A2A368	470
OR4X1	PRSS54	Q6PEW0	452
OR4X1	OR2C1	O95371	407
OR4X1	OR1J2	Q8NGS2	398
OR4X1	DNPEP	Q9ULA0	392
OR4X1	OR2L13	Q8N349	379
OR4X1	SLC22A24	Q8N4F4	371
OR4X1	PCDH20	Q8N6Y1	367
OR4X1	MRGPRF	Q96AM1	366
OR4X1	ZNF117	Q03924	364
OR4X1	GPR20	Q99678	356
OR4X1	SH3TC2	Q8TF17	353
OR4X1	DRC11	Q86XH1	325
OR4X1	GPR25	O00155	318

IntAct

0 interactions, top by confidence:

BioGRID (1): OR4X1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

201 predictions. Top by Δscore:

Variant	Effect	Δscore
11:48264278:G:GA	donor_gain	0.9100
11:48264292:G:T	donor_gain	0.8600
11:48264122:A:T	donor_gain	0.8400
11:48264291:GGA:G	donor_gain	0.8100
11:48264277:T:TA	donor_gain	0.7900
11:48264287:G:GG	donor_gain	0.7300
11:48264175:T:TA	acceptor_gain	0.7100
11:48264206:A:AG	donor_gain	0.6900
11:48264271:A:T	donor_gain	0.6900
11:48264292:G:GT	donor_gain	0.6800
11:48264286:C:CG	donor_gain	0.6700
11:48263919:G:GG	donor_gain	0.6200
11:48264121:G:GT	donor_gain	0.5500
11:48264293:A:T	donor_gain	0.5500
11:48263918:A:AG	donor_gain	0.5400
11:48264178:T:TA	acceptor_gain	0.5400
11:48264273:T:G	donor_gain	0.5400
11:48264393:A:AG	donor_gain	0.5300
11:48264719:TTCA:T	acceptor_loss	0.5300
11:48264720:TCA:T	acceptor_loss	0.5300
11:48264721:CAG:C	acceptor_loss	0.5300
11:48264220:C:G	donor_gain	0.5200
11:48264718:CTTCA:C	acceptor_loss	0.5200
11:48264591:T:G	donor_gain	0.5100
11:48264403:A:AG	acceptor_gain	0.5000
11:48264404:G:GG	acceptor_gain	0.5000
11:48264590:GTT:G	donor_gain	0.5000
11:48264723:GGA:G	acceptor_gain	0.5000
11:48264770:G:GG	donor_gain	0.5000
11:48264583:T:G	donor_gain	0.4700

AlphaMissense

2029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:48264356:T:C	F166L	0.799
11:48264358:C:A	F166L	0.799
11:48264358:C:G	F166L	0.799
11:48264158:T:C	F100L	0.689
11:48264160:T:A	F100L	0.689
11:48264160:T:G	F100L	0.689
11:48263945:T:C	F29L	0.662
11:48263947:T:A	F29L	0.662
11:48263947:T:G	F29L	0.662
11:48264386:T:C	F176L	0.653
11:48264388:C:A	F176L	0.653
11:48264388:C:G	F176L	0.653
11:48264602:T:C	F248L	0.632
11:48264604:C:A	F248L	0.632
11:48264604:C:G	F248L	0.632
11:48264605:T:C	F249L	0.615
11:48264607:C:A	F249L	0.615
11:48264607:C:G	F249L	0.615
11:48264674:T:C	F272L	0.605
11:48264676:T:A	F272L	0.605
11:48264676:T:G	F272L	0.605
11:48264035:T:C	F59L	0.596
11:48264037:C:A	F59L	0.596
11:48264037:C:G	F59L	0.596

dbSNP variants (sampled 300 via entrez): RS1001400194 (11:48265063 G>A), RS1001972306 (11:48263765 A>G), RS1002400928 (11:48264053 T>C), RS1002725930 (11:48263404 C>A,G), RS1003645221 (11:48264766 A>C), RS1004270117 (11:48263684 A>G), RS1004392910 (11:48263429 G>A), RS1004530255 (11:48262540 G>T), RS1005285469 (11:48262518 G>A), RS1006202790 (11:48263695 T>C), RS1008642871 (11:48261879 G>A,T), RS1009742735 (11:48264267 A>C), RS1010333530 (11:48263147 A>G), RS1010422371 (11:48264392 G>T), RS1010958440 (11:48265122 A>C)

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
GCST009685_10	Hypertension	7.000000e-09
GCST010244_341	Triglyceride levels	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride 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
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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