OR1Q1

Summary

OR1Q1 (olfactory receptor family 1 subfamily Q member 1, HGNC:8223) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1Q1 (Q15612). 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 158131 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_012364

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8223
Approved symbol	OR1Q1
Name	olfactory receptor family 1 subfamily Q member 1
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106
Ensembl gene	ENSG00000165202
Ensembl biotype	protein_coding
Entrez	158131

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000297913

RefSeq mRNA: 1 — MANE Select: NM_012364 NM_012364

CCDS: CCDS35125

Canonical transcript exons

ENST00000297913 — 1 exons

Exon	Start	End
ENSE00001091238	122614738	122615682

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 95.72.

Top tissues by expression

203 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	95.72	silver quality
stromal cell of endometrium	CL:0002255	60.10	gold quality
inferior vagus X ganglion	UBERON:0005363	53.97	gold quality
urethra	UBERON:0000057	53.40	gold quality
layer of synovial tissue	UBERON:0007616	53.26	gold quality
saphenous vein	UBERON:0007318	53.24	gold quality
pericardium	UBERON:0002407	53.10	gold quality
dorsal root ganglion	UBERON:0000044	52.96	gold quality
trigeminal ganglion	UBERON:0001675	52.93	gold quality
thymus	UBERON:0002370	52.92	gold quality
synovial joint	UBERON:0002217	52.89	gold quality
nipple	UBERON:0002030	52.82	gold quality
penis	UBERON:0000989	52.79	gold quality
pylorus	UBERON:0001166	52.74	gold quality
renal medulla	UBERON:0000362	52.71	gold quality
superior surface of tongue	UBERON:0007371	52.56	gold quality
medulla oblongata	UBERON:0001896	52.54	gold quality
superior vestibular nucleus	UBERON:0007227	52.50	gold quality
pons	UBERON:0000988	52.44	gold quality
ventral tegmental area	UBERON:0002691	52.32	gold quality
cardia of stomach	UBERON:0001162	52.28	gold quality
dorsal plus ventral thalamus	UBERON:0001897	52.28	gold quality
subthalamic nucleus	UBERON:0001906	52.23	gold quality
trachea	UBERON:0003126	52.22	gold quality
cerebellar vermis	UBERON:0004720	52.16	gold quality
tongue	UBERON:0001723	52.08	gold quality
substantia nigra pars compacta	UBERON:0001965	52.08	gold quality
substantia nigra pars reticulata	UBERON:0001966	51.99	gold quality
pharyngeal mucosa	UBERON:0000355	51.91	gold quality
body of tongue	UBERON:0011876	51.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1q1	ENSMUSG00000055838
rattus_norvegicus	Or1q1	ENSRNOG00000007965

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), 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), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1Q1 — Q15612 (reviewed: Q15612)

Alternative names: OST226, Olfactory receptor 1Q2, Olfactory receptor 1Q3, Olfactory receptor 9-A, Olfactory receptor OR9-25, Olfactory receptor TPCR106

All UniProt accessions (1): Q15612

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_036496* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15612-F1	87.74	0.64

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: 20 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, 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, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, SCHERER_PBMC_YF_VAX_AGE_18_40YO_4_TO_7DY_UP, REACTOME_SENSORY_PERCEPTION

GO Biological Process (4): signal transduction (GO:0007165), sensory perception of smell (GO:0007608), G protein-coupled receptor signaling pathway (GO:0007186), 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
sensory perception of chemical stimulus	1
G protein-coupled receptor activity	1
signal transduction	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

258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1Q1	WDR38	Q5JTN6	581
OR1Q1	MS4A3	Q96HJ5	491
OR1Q1	GARIN2	Q8N9W8	479
OR1Q1	SERPINA10	Q9UK55	476
OR1Q1	PDE1B	Q01064	460
OR1Q1	TBX22	Q9Y458	434
OR1Q1	VWA3A	A6NCI4	420
OR1Q1	TMEM178B	H3BS89	393
OR1Q1	BOK	Q9UMX3	386
OR1Q1	FAM114A2	Q9NRY5	373
OR1Q1	TAS2R3	Q9NYW6	372
OR1Q1	NWD1	Q149M9	368
OR1Q1	SNAPC4	Q5SXM2	358
OR1Q1	EMC4	Q5J8M3	343
OR1Q1	PROZ	P22891	340

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: O14581, O43749, O60412, O60431, O76099, O76100, O95221, P0C7N1, P23265, P23266, P23268, P23269, P23271, P23272, P23273, P23274, P30953, P30955, P34982, P34987, P35896, P35898, P47884, P47887, P47890, P58170, P70526, Q0VAX9, Q15612, Q15617, Q15619, Q15622, Q60879, Q60892, Q60895, Q6IFN5, Q6UXT6, Q7TRF3, Q8NG95, Q8NG98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

256 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122614970:TCCCC:T	donor_gain	0.8300
9:122615272:T:TA	acceptor_gain	0.7400
9:122615283:C:G	acceptor_gain	0.7300
9:122615247:A:AG	acceptor_gain	0.6700
9:122615248:G:GG	acceptor_gain	0.6700
9:122615274:T:TA	acceptor_gain	0.6600
9:122615003:CAAAG:C	donor_loss	0.5600
9:122615004:AAAG:A	donor_loss	0.5600
9:122615005:AAG:A	donor_loss	0.5600
9:122615006:AG:A	donor_loss	0.5600
9:122615007:GGT:G	donor_loss	0.5600
9:122615008:G:GG	donor_loss	0.5600
9:122615009:T:C	donor_loss	0.5600
9:122615098:GACAG:G	donor_loss	0.5500
9:122615099:ACAGG:A	donor_loss	0.5500
9:122615100:CAG:C	donor_loss	0.5500
9:122615101:AGGT:A	donor_loss	0.5500
9:122615102:GG:G	donor_loss	0.5500
9:122615103:G:GG	donor_loss	0.5500
9:122615104:T:G	donor_loss	0.5500
9:122615010:A:C	donor_loss	0.5400
9:122615246:CAGAT:C	acceptor_loss	0.5400
9:122615247:A:AC	acceptor_loss	0.5400
9:122615283:C:CA	acceptor_gain	0.5400
9:122615105:A:C	donor_loss	0.5200
9:122615550:T:TA	donor_gain	0.5200
9:122615226:A:AG	acceptor_gain	0.5100
9:122615227:G:GG	acceptor_gain	0.5100
9:122615236:ATCTT:A	acceptor_loss	0.5100
9:122615244:TGCAG:T	acceptor_gain	0.4800

AlphaMissense

2093 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122614771:T:C	F12L	0.930
9:122614773:T:A	F12L	0.930
9:122614773:T:G	F12L	0.930
9:122615239:T:C	F168L	0.924
9:122615241:C:A	F168L	0.924
9:122615241:C:G	F168L	0.924
9:122614828:T:C	F31L	0.914
9:122614830:C:A	F31L	0.914
9:122614830:C:G	F31L	0.914
9:122615266:T:C	F177L	0.914
9:122615268:C:A	F177L	0.914
9:122615268:C:G	F177L	0.914
9:122615488:T:C	F251L	0.901
9:122615490:C:A	F251L	0.901
9:122615490:C:G	F251L	0.901
9:122615269:T:C	F178L	0.881
9:122615271:C:A	F178L	0.881
9:122615271:C:G	F178L	0.881
9:122615258:T:C	I174T	0.879
9:122615091:G:A	M118I	0.862
9:122615091:G:C	M118I	0.862
9:122615091:G:T	M118I	0.862
9:122614851:T:A	N38K	0.861
9:122614851:T:G	N38K	0.861
9:122614951:T:C	C72R	0.861
9:122615037:A:C	Q100H	0.861
9:122615037:A:T	Q100H	0.861
9:122615608:A:C	S291R	0.854
9:122615610:C:A	S291R	0.854
9:122615610:C:G	S291R	0.854

dbSNP variants (sampled 300 via entrez): RS1000053417 (9:122613158 G>T), RS1000211412 (9:122613035 G>A,C), RS1000240981 (9:122613374 T>G), RS1001055260 (9:122614543 G>A,T), RS1001240818 (9:122614655 C>G,T), RS1003329627 (9:122616017 A>T), RS1003549470 (9:122615776 C>A), RS1003930879 (9:122616032 C>A), RS1004269706 (9:122613860 C>T), RS1006450372 (9:122614100 C>T), RS1008836566 (9:122613960 C>G,T), RS1010681000 (9:122613475 G>A,T), RS1011270111 (9:122614705 T>C), RS1011416277 (9:122615734 G>A,T), RS1012677918 (9:122614610 A>C,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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	affects expression	1
Sodium Selenite	decreases expression	1

Clinical trials (associated diseases)

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