OR6Y1

gene
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Summary

OR6Y1 (olfactory receptor family 6 subfamily Y member 1, HGNC:14823) is a protein-coding gene on chromosome 1q23.1, encoding Olfactory receptor 6Y1 (Q8NGX8). 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 391112 — RefSeq curated summary.

At a glance

  • GWAS associations: 29
  • Clinical variants (ClinVar): 66 total
  • MANE Select transcript: NM_001005189

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14823
Approved symbolOR6Y1
Nameolfactory receptor family 6 subfamily Y member 1
Location1q23.1
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000197532
Ensembl biotypeprotein_coding
Entrez391112

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000641282, ENST00000641622

RefSeq mRNA: 2 — MANE Select: NM_001005189 NM_001005189, NM_001386050

CCDS: CCDS30899

Canonical transcript exons

ENST00000641622 — 2 exons

ExonStartEnd
ENSE00003811946158554266158554405
ENSE00003812714158544550158549537

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 50.46.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548850.46gold quality
stromal cell of endometriumCL:000225548.13gold quality
hindlimb stylopod muscleUBERON:000425244.83gold quality
calcaneal tendonUBERON:000370142.28gold quality
monocyteCL:000057641.34gold quality
leukocyteCL:000073841.28gold quality
bone marrowUBERON:000237139.97gold quality
endometriumUBERON:000129537.66gold quality
granulocyteCL:000009437.61gold quality
colonic epitheliumUBERON:000039737.20gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
skeletal muscle tissueUBERON:000113436.42gold quality
bone marrow cellCL:000209236.16gold quality
primary visual cortexUBERON:000243635.82gold quality
bloodUBERON:000017835.61gold quality
muscle tissueUBERON:000238535.57gold quality
ganglionic eminenceUBERON:000402335.49gold quality
cortex of kidneyUBERON:000122535.44gold quality
apex of heartUBERON:000209835.30gold quality
liverUBERON:000210734.95gold quality
adrenal tissueUBERON:001830334.88gold quality
right adrenal gland cortexUBERON:003582734.21gold quality
muscle of legUBERON:000138333.97gold quality
mucosa of transverse colonUBERON:000499133.93gold quality
right coronary arteryUBERON:000162533.77gold quality
popliteal arteryUBERON:000225033.56gold quality
corpus callosumUBERON:000233633.54gold quality
tibial arteryUBERON:000761033.53gold quality
gastrocnemiusUBERON:000138833.18gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.42
E-MTAB-6678no187.17
E-MTAB-7249no67.23

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusOr6p1ENSMUSG00000051509
rattus_norvegicusOr6p1ENSRNOG00000077494

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Olfactory receptor 6Y1Q8NGX8 (reviewed: Q8NGX8)

Alternative names: Olfactory receptor 6Y2, Olfactory receptor OR1-11

All UniProt accessions (1): Q8NGX8

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 (2): NP_001005189, NP_001372979 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000276GPCR_RhodpsnFamily
IPR000725Olfact_rcptFamily
IPR017452GPCR_Rhodpsn_7TMDomain

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, glycosylation site 2, chain 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NGX8-F186.470.61

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): 102–194

Glycosylation sites (2): 10, 191

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-9752946Expression 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, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, chr1q23

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

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:

CategoryPathways
Olfactory Signaling Pathway1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transmembrane signaling receptor activity2
sensory perception of smell1
detection of chemical stimulus involved in sensory perception1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
G protein-coupled receptor activity1
signal transduction1
sensory perception of chemical stimulus1
G protein-coupled receptor signaling pathway1
detection of chemical stimulus involved in sensory perception of smell1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

170 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
OR6Y1TAS2R1Q9NYW7289
OR6Y1TAS1R2Q8TE23282
OR6Y1SCNN1BP51168247
OR6Y1METRNLQ641Q3244
OR6Y1PDE11AQ9HCR9225
OR6Y1VN1R1Q9GZP7222
OR6Y1PDE1AP54750213
OR6Y1GALNT3Q14435201
OR6Y1RIC8BQ9NVN3195
OR6Y1SPTA1P02549195
OR6Y1MRGPRX3Q96LB0185
OR6Y1PKD2L1Q9P0L9170
OR6Y1DLX1P56177170
OR6Y1KCNK17Q96T54169
OR6Y1MRGPREQ86SM8167

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O43749, O76001, O76002, O76100, O95006, P0DMU2, P23266, P23269, P23272, P23274, P30953, P30955, P58173, P59922, P70526, Q13607, Q15619, Q60890, Q6UXT6, Q8N148, Q8N628, Q8NGA6, Q8NGL2, Q8NGS0, Q8NGS2, Q8NGX8, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NH04, Q8VGI1, Q8VGK5, Q8VGR9, Q95156, Q96R09, Q96R47, Q96R48, Q96R84, Q9GZK6

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

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance64
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

370 predictions. Top by Δscore:

VariantEffectΔscore
1:158547449:C:CTacceptor_gain0.8000
1:158547164:T:TAdonor_gain0.7300
1:158547330:A:Cacceptor_gain0.6700
1:158547255:G:GCacceptor_gain0.6600
1:158547330:A:ACacceptor_gain0.6500
1:158547519:T:TAdonor_gain0.6500
1:158547348:A:ACdonor_gain0.6400
1:158547349:C:CCdonor_gain0.6400
1:158547204:T:TAdonor_gain0.6300
1:158547409:T:TAdonor_gain0.6300
1:158547618:A:Cdonor_gain0.6200
1:158547349:CGA:Cdonor_gain0.6000
1:158547507:G:GAdonor_gain0.6000
1:158547650:T:TAdonor_gain0.6000
1:158547131:A:Cdonor_gain0.5900
1:158547150:C:Adonor_gain0.5900
1:158547253:CAG:Cacceptor_gain0.5800
1:158547314:A:Cacceptor_gain0.5800
1:158547653:T:TAdonor_gain0.5800
1:158547138:AAAGC:Adonor_gain0.5700
1:158547551:A:ACdonor_gain0.5700
1:158547875:C:CTdonor_gain0.5700
1:158547132:C:CTdonor_gain0.5600
1:158547133:T:TTdonor_gain0.5600
1:158547329:CA:Cacceptor_gain0.5600
1:158547393:C:CAdonor_gain0.5600
1:158548086:T:TAdonor_gain0.5600
1:158547201:A:ACdonor_gain0.5500
1:158547202:C:CCdonor_gain0.5500
1:158547254:A:Tacceptor_gain0.5500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000140900 (1:158546811 G>A), RS1000257304 (1:158546547 TG>T), RS1000482095 (1:158552269 T>A,G), RS1000580024 (1:158554347 T>C), RS1000703733 (1:158553655 A>G), RS1001245565 (1:158551769 C>A,T), RS1001478783 (1:158546103 T>C,G), RS1001632990 (1:158551601 C>T), RS1002254582 (1:158552944 T>A), RS1002260911 (1:158548930 A>G), RS1002486741 (1:158550590 A>G,T), RS1002694914 (1:158546888 A>C), RS1003061531 (1:158550227 T>G), RS1003098819 (1:158544856 G>C), RS1003355955 (1:158550064 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

29 associations (top):

StudyTraitp-value
GCST001765_34Red blood cell traits4.000000e-16
GCST007997_1Obesity (extreme) (SNP x SNP interaction)1.000000e-08
GCST007997_10Obesity (extreme) (SNP x SNP interaction)4.000000e-10
GCST007997_13Obesity (extreme) (SNP x SNP interaction)3.000000e-09
GCST007997_14Obesity (extreme) (SNP x SNP interaction)2.000000e-09
GCST007997_15Obesity (extreme) (SNP x SNP interaction)9.000000e-10
GCST007997_16Obesity (extreme) (SNP x SNP interaction)3.000000e-10
GCST007997_17Obesity (extreme) (SNP x SNP interaction)5.000000e-10
GCST007997_18Obesity (extreme) (SNP x SNP interaction)9.000000e-10
GCST007997_2Obesity (extreme) (SNP x SNP interaction)9.000000e-08
GCST007997_22Obesity (extreme) (SNP x SNP interaction)2.000000e-09
GCST007997_23Obesity (extreme) (SNP x SNP interaction)1.000000e-09
GCST007997_24Obesity (extreme) (SNP x SNP interaction)7.000000e-10
GCST007997_25Obesity (extreme) (SNP x SNP interaction)2.000000e-10
GCST007997_26Obesity (extreme) (SNP x SNP interaction)4.000000e-10
GCST007997_3Obesity (extreme) (SNP x SNP interaction)2.000000e-08
GCST007997_31Obesity (extreme) (SNP x SNP interaction)3.000000e-10
GCST007997_32Obesity (extreme) (SNP x SNP interaction)2.000000e-10
GCST007997_33Obesity (extreme) (SNP x SNP interaction)9.000000e-11
GCST007997_34Obesity (extreme) (SNP x SNP interaction)3.000000e-11
GCST007997_35Obesity (extreme) (SNP x SNP interaction)7.000000e-11
GCST007997_36Obesity (extreme) (SNP x SNP interaction)9.000000e-11
GCST007997_4Obesity (extreme) (SNP x SNP interaction)3.000000e-08
GCST007997_5Obesity (extreme) (SNP x SNP interaction)1.000000e-09
GCST007997_6Obesity (extreme) (SNP x SNP interaction)8.000000e-10
GCST007997_7Obesity (extreme) (SNP x SNP interaction)4.000000e-10
GCST007997_8Obesity (extreme) (SNP x SNP interaction)1.000000e-10
GCST007997_9Obesity (extreme) (SNP x SNP interaction)3.000000e-10
GCST90002404_432Red cell distribution width4.000000e-19

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004528mean corpuscular hemoglobin concentration
EFO:0009188Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

ChemicalActions (top 5)PubMed papers
CGP 52608affects binding, increases reaction1
Resveratrolaffects cotreatment, decreases expression1
Benzo(a)pyreneincreases methylation1
Cadmiumdecreases expression, increases abundance1
Copperaffects cotreatment, decreases expression1
Folic Acidincreases expression1
Sodium Selenitedecreases expression1
Cadmium Chloridedecreases expression, increases abundance1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): obesity disorder