OR9Q1

Summary

OR9Q1 (olfactory receptor family 9 subfamily Q member 1, HGNC:14724) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 9Q1 (Q8NGQ5). 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 219956 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001005212

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14724
Approved symbol	OR9Q1
Name	olfactory receptor family 9 subfamily Q member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000186509
Ensembl biotype	protein_coding
Entrez	219956

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000335397, ENST00000612174

RefSeq mRNA: 1 — MANE Select: NM_001005212 NM_001005212

CCDS: CCDS31543

Canonical transcript exons

ENST00000335397 — 3 exons

Exon	Start	End
ENSE00001107353	58179431	58181616
ENSE00001520533	58055870	58055947
ENSE00001520534	58023881	58024104

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 48.13.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	48.13	gold quality
sural nerve	UBERON:0015488	44.88	gold quality
colonic epithelium	UBERON:0000397	41.79	gold quality
ventricular zone	UBERON:0003053	40.01	gold quality
skeletal muscle tissue	UBERON:0001134	38.51	gold quality
lower esophagus mucosa	UBERON:0035834	37.44	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
placenta	UBERON:0001987	35.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.83	gold quality
monocyte	CL:0000576	35.56	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
leukocyte	CL:0000738	34.85	gold quality
muscle tissue	UBERON:0002385	34.83	gold quality
bone marrow	UBERON:0002371	32.82	gold quality
liver	UBERON:0002107	31.51	gold quality
muscle of leg	UBERON:0001383	30.40	gold quality
calcaneal tendon	UBERON:0003701	30.38	gold quality
prefrontal cortex	UBERON:0000451	30.16	gold quality
superior frontal gyrus	UBERON:0002661	29.95	gold quality
gastrocnemius	UBERON:0001388	29.51	gold quality
omental fat pad	UBERON:0010414	29.08	silver quality
urinary bladder	UBERON:0001255	28.83	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	28.83	gold quality
tonsil	UBERON:0002372	28.52	gold quality
cortex of kidney	UBERON:0001225	28.50	silver quality
blood	UBERON:0000178	28.49	gold quality
gall bladder	UBERON:0002110	28.47	gold quality
duodenum	UBERON:0002114	28.14	gold quality
myometrium	UBERON:0001296	27.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting OR9Q1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-130A-5P	99.33	70.26	2623

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or9q1	ENSMUSG00000054526
rattus_norvegicus	Or9q1	ENSRNOG00000023530

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 9Q1 — Q8NGQ5 (reviewed: Q8NGQ5)

All UniProt accessions (1): Q8NGQ5

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_001005212* (*=MANE)

Domains & families (InterPro)

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

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-Q8NGQ5-F1	84.62	0.41

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 (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: 25 (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_ODORANT_BINDING, 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, MIR3646, MIR548AW, MIR450B_5P, MIR6124

GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), signal transduction (GO:0007165), 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), odorant binding (GO:0005549)

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
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of chemical stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to 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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

110 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR9Q1	ORMDL2	Q53FV1	571
OR9Q1	USP17L19	D6RCP7	435
OR9Q1	USP17L15	C9J2P7	432
OR9Q1	MRPS16	Q9Y3D3	348
OR9Q1	NKD1	Q969G9	321
OR9Q1	POU2F3	Q9UKI9	313
OR9Q1	TUBGCP2	Q9BSJ2	311
OR9Q1	ARHGAP15	Q53QZ3	301
OR9Q1	CACNG4	Q9UBN1	294
OR9Q1	GCC2	Q8IWJ2	280
OR9Q1	LRRC15	Q8TF66	271
OR9Q1	CER1	O95813	252
OR9Q1	KCNIP1	Q9NZI2	250
OR9Q1	ATF7	P17544	248
OR9Q1	CYP2C8	P10632	247

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A6NL26, O95221, P0C617, P0C626, P0C7N1, P0C7N5, P0C7N8, P0DMU2, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60886, Q60893, Q60894, Q60895, Q6IEU7, Q6UXT6, Q7TR96, Q8N0Y5, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NGC0, Q8NGE9, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2, Q8NGG3, Q8NGG4, Q8NGG5, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2694 predictions. Top by Δscore:

Variant	Effect	Δscore
11:58024089:C:G	donor_gain	0.9900
11:58024102:G:GT	donor_gain	0.9900
11:58041002:A:AG	donor_gain	0.9900
11:58055856:C:G	acceptor_gain	0.9900
11:58055943:GAACT:G	donor_gain	0.9900
11:58055948:G:GG	donor_gain	0.9900
11:58079124:TTG:T	donor_gain	0.9900
11:58079179:G:GT	donor_gain	0.9900
11:58144549:A:G	donor_gain	0.9900
11:58162899:TCAA:T	donor_gain	0.9900
11:58024100:CGGAG:C	donor_loss	0.9800
11:58024101:GGAGG:G	donor_loss	0.9800
11:58024103:AG:A	donor_loss	0.9800
11:58024104:GGT:G	donor_loss	0.9800
11:58024105:GT:G	donor_loss	0.9800
11:58024106:T:G	donor_loss	0.9800
11:58055855:A:AG	acceptor_gain	0.9800
11:58079073:AAGG:A	donor_gain	0.9800
11:58079135:GG:G	donor_gain	0.9800
11:58079136:GG:G	donor_gain	0.9800
11:58148932:A:T	donor_gain	0.9800
11:58171476:GTCTC:G	donor_gain	0.9800
11:58171477:TCTCT:T	donor_gain	0.9800
11:58179423:T:G	acceptor_gain	0.9800
11:58055863:T:G	acceptor_gain	0.9700
11:58055869:GCCAT:G	acceptor_gain	0.9700
11:58162901:AAAG:A	donor_gain	0.9700
11:58036387:A:T	donor_gain	0.9600
11:58040996:A:T	donor_gain	0.9600
11:58100922:A:G	donor_gain	0.9600

AlphaMissense

2024 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:58179478:T:C	F12L	0.865
11:58179480:C:A	F12L	0.865
11:58179480:C:G	F12L	0.865
11:58179946:T:C	F168L	0.846
11:58179948:C:A	F168L	0.846
11:58179948:C:G	F168L	0.846
11:58179934:T:C	F164L	0.840
11:58179936:C:A	F164L	0.840
11:58179936:C:G	F164L	0.840
11:58179976:T:C	F178L	0.790
11:58179978:C:A	F178L	0.790
11:58179978:C:G	F178L	0.790
11:58179493:T:C	F17L	0.776
11:58179495:C:A	F17L	0.776
11:58179495:C:G	F17L	0.776
11:58180195:T:C	F251L	0.746
11:58180197:T:A	F251L	0.746
11:58180197:T:G	F251L	0.746
11:58179970:T:C	F176L	0.730
11:58179972:T:A	F176L	0.730
11:58179972:T:G	F176L	0.730
11:58179754:T:C	F104L	0.723
11:58179756:C:A	F104L	0.723
11:58179756:C:G	F104L	0.723
11:58180192:T:C	F250L	0.711
11:58180194:C:A	F250L	0.711
11:58180194:C:G	F250L	0.711
11:58179745:T:C	F101L	0.697
11:58179747:C:A	F101L	0.697
11:58179747:C:G	F101L	0.697

dbSNP variants (sampled 300 via entrez): RS1000016054 (11:58175558 T>C), RS1000017314 (11:58094573 A>G,T), RS1000030625 (11:58130694 T>C), RS1000038205 (11:58034075 T>C), RS1000064191 (11:58178859 C>A), RS1000065681 (11:58136393 C>T), RS1000085393 (11:58179062 C>A), RS1000142453 (11:58129949 G>A), RS1000164027 (11:58044117 A>G), RS1000166329 (11:58172591 C>T), RS1000211438 (11:58082087 A>G), RS1000227201 (11:58094807 G>A), RS1000232288 (11:58043783 A>G), RS1000265456 (11:58085718 A>G), RS1000314139 (11:58083203 G>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

13 associations (top):

Study	Trait	p-value
GCST003984_15	Parkinson’s disease	2.000000e-09
GCST006919_4	Ability to confide in someone	9.000000e-08
GCST006923_2	Loneliness	3.000000e-06
GCST006924_11	Loneliness (MTAG)	8.000000e-09
GCST008839_53	Height	1.000000e-17
GCST012020_181	Serum metabolite levels	3.000000e-11
GCST012020_182	Serum metabolite levels	5.000000e-11
GCST012020_209	Serum metabolite levels	4.000000e-13
GCST012020_210	Serum metabolite levels	7.000000e-15
GCST012021_106	Serum metabolite levels	3.000000e-11
GCST012021_107	Serum metabolite levels	5.000000e-11
GCST012100_1	Hypertrophic cardiomyopathy (sarcomere positive)	2.000000e-11
GCST90002395_85	Mean platelet volume	4.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness 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
CGP 52608	affects binding, increases reaction	1
Vehicle Emissions	decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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