OR6X1

Summary

OR6X1 (olfactory receptor family 6 subfamily X member 1, HGNC:14737) is a protein-coding gene on chromosome 11q24.1, encoding Olfactory receptor 6X1 (Q8NH79). 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 390260 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_001005188

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14737
Approved symbol	OR6X1
Name	olfactory receptor family 6 subfamily X member 1
Location	11q24.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000221931
Ensembl biotype	protein_coding
Entrez	390260

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000327930

RefSeq mRNA: 1 — MANE Select: NM_001005188 NM_001005188

CCDS: CCDS31695

Canonical transcript exons

ENST00000327930 — 1 exons

Exon	Start	End
ENSE00001323230	123753580	123754518

Expression profiles

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

Top tissues by expression

127 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
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	29.22	gold quality
tonsil	UBERON:0002372	28.69	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	27.75	gold quality
lymph node	UBERON:0000029	27.57	gold quality
calcaneal tendon	UBERON:0003701	27.06	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.43	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
corpus callosum	UBERON:0002336	25.87	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
leukocyte	CL:0000738	25.51	gold quality
frontal cortex	UBERON:0001870	25.43	gold quality
monocyte	CL:0000576	25.30	gold quality
muscle of leg	UBERON:0001383	25.15	gold quality
pancreas	UBERON:0001264	24.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6x1	ENSMUSG00000051095
rattus_norvegicus	Or6x1	ENSRNOG00000088842

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6V1 (ENSG00000225781), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6X1 — Q8NH79 (reviewed: Q8NH79)

Alternative names: Olfactory receptor OR11-270

All UniProt accessions (2): A0A126GVM0, Q8NH79

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_001005188* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-like	Family

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH79-F1	86.73	0.57

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 (1): 3

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, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, chr11q24, 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, BPTF_TARGET_GENES, REACTOME_SENSORY_PERCEPTION

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

182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6X1	KRTAP19-7	Q3SYF9	582
OR6X1	FTHL17	Q9BXU8	541
OR6X1	EFR3A	Q14156	507
OR6X1	FAM181A	Q8N9Y4	507
OR6X1	KRT84	Q9NSB2	506
OR6X1	GLCCI1	Q86VQ1	447
OR6X1	PCDHGB4	Q9UN71	447
OR6X1	ZNF781	Q8N8C0	446
OR6X1	NMBR	P28336	411
OR6X1	PHETA1	Q8N4B1	403
OR6X1	TAAR5	O14804	400
OR6X1	ADGRF3	Q8IZF5	400
OR6X1	SLC15A3	Q8IY34	397
OR6X1	UNC79	Q9P2D8	391
OR6X1	CDH20	Q9HBT6	377

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR6X1	TRIP11	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): OR6X1 (Proximity Label-MS)

ESM2 similar proteins: A6NCV1, A6NL08, O76000, O95007, O95221, P0C626, P0C629, P0DMU2, P30954, P30955, P37070, P37071, P58181, P70526, Q15617, Q60882, Q60890, Q60893, Q60895, Q6IEU7, Q8N0Y5, Q8NGG4, Q8NGG6, Q8NGG7, Q8NGH3, Q8NGI7, Q8NGP6, Q8NGP8, Q8NGP9, Q8NGT1, Q8NGX3, Q8NH01, Q8NH04, Q8NH74, Q8NH79, Q8NHC4, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P58180, Q13606, Q15615, Q60878, Q60881, Q60888, Q60893, Q6IEV9, Q6IEY1, Q6IF82, Q6UXT6, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGA1, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD3, Q8NGD4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

303 predictions. Top by Δscore:

Variant	Effect	Δscore
11:123754457:AGG:A	donor_gain	0.9100
11:123754402:G:A	donor_gain	0.8500
11:123753852:T:TC	acceptor_gain	0.8100
11:123754502:A:AC	donor_gain	0.7900
11:123754503:C:CC	donor_gain	0.7900
11:123754482:G:C	donor_gain	0.7700
11:123753863:A:AC	acceptor_gain	0.7500
11:123753865:G:C	acceptor_gain	0.7200
11:123753852:T:C	acceptor_gain	0.7100
11:123754517:ATGTC:A	donor_gain	0.6900
11:123753863:A:C	acceptor_gain	0.6700
11:123754164:C:CT	acceptor_gain	0.6700
11:123753846:G:C	acceptor_gain	0.6600
11:123753647:C:CC	acceptor_gain	0.6200
11:123753869:A:C	acceptor_gain	0.6100
11:123754161:G:T	acceptor_gain	0.6100
11:123754499:A:AC	donor_gain	0.6000
11:123753871:A:C	acceptor_gain	0.5900
11:123753859:C:CT	acceptor_gain	0.5800
11:123753898:C:A	donor_gain	0.5800
11:123753785:A:AC	donor_gain	0.5600
11:123753786:C:CC	donor_gain	0.5600
11:123754012:ATTG:A	donor_gain	0.5600
11:123754015:G:A	donor_gain	0.5500
11:123753865:G:GC	acceptor_gain	0.5400
11:123753897:AC:A	donor_gain	0.5400
11:123753696:G:C	donor_gain	0.5200
11:123753746:A:AC	donor_gain	0.5200
11:123754349:A:C	donor_gain	0.5200
11:123754399:A:AC	donor_gain	0.5200

AlphaMissense

2031 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:123754489:G:C	F10L	0.875
11:123754489:G:T	F10L	0.875
11:123754491:A:G	F10L	0.875
11:123753994:G:C	F175L	0.837
11:123753994:G:T	F175L	0.837
11:123753996:A:G	F175L	0.837
11:123754021:G:C	F166L	0.805
11:123754021:G:T	F166L	0.805
11:123754023:A:G	F166L	0.805
11:123754474:A:C	F15L	0.805
11:123754474:A:T	F15L	0.805
11:123754476:A:G	F15L	0.805
11:123754219:G:C	F100L	0.775
11:123754219:G:T	F100L	0.775
11:123754221:A:G	F100L	0.775
11:123754189:G:C	F110L	0.771
11:123754189:G:T	F110L	0.771
11:123754191:A:G	F110L	0.771
11:123754441:A:C	F26L	0.715
11:123754441:A:T	F26L	0.715
11:123754443:A:G	F26L	0.715
11:123754210:G:C	F103L	0.711
11:123754210:G:T	F103L	0.711
11:123754212:A:G	F103L	0.711
11:123753811:G:C	F236L	0.688
11:123753811:G:T	F236L	0.688
11:123753813:A:G	F236L	0.688
11:123754490:A:G	F10S	0.633
11:123754225:C:A	Q98H	0.629
11:123754225:C:G	Q98H	0.629

dbSNP variants (sampled 300 via entrez): RS1000044121 (11:123756114 G>A), RS1001007413 (11:123755483 T>C), RS1001057625 (11:123755837 G>A), RS1002073055 (11:123753262 C>A), RS1002619291 (11:123753144 GT>G), RS1004013949 (11:123753703 C>T), RS1004276252 (11:123753332 C>T), RS1004848185 (11:123755973 A>G), RS1005583615 (11:123756180 A>G,T), RS1006538697 (11:123755223 T>C), RS1006569750 (11:123755700 T>G), RS1007591999 (11:123753571 T>A,C), RS1008246336 (11:123753976 G>C), RS1009351403 (11:123755123 C>G), RS1010509938 (11:123754320 A>G)

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
GCST002124_1	IgE levels in asthmatics (D.p. specific)	3.000000e-06

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	increases methylation	1

Clinical trials (associated diseases)

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