OR1A1

Summary

OR1A1 (olfactory receptor family 1 subfamily A member 1, HGNC:8179) is a protein-coding gene on chromosome 17p13.3, encoding Olfactory receptor 1A1 (Q9P1Q5). 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 8383 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_014565

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8179
Approved symbol	OR1A1
Name	olfactory receptor family 1 subfamily A member 1
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	OR17-7
Ensembl gene	ENSG00000172146
Ensembl biotype	protein_coding
OMIM	618046
Entrez	8383

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000641322, ENST00000641732, ENST00000642014

RefSeq mRNA: 2 — MANE Select: NM_014565 NM_001386104, NM_014565

CCDS: CCDS11022

Canonical transcript exons

ENST00000641732 — 4 exons

Exon	Start	End
ENSE00003812447	3208581	3208998
ENSE00003812842	3215616	3218896
ENSE00003813270	3212467	3212599
ENSE00003917068	3207667	3208000

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 78.63.

Top tissues by expression

239 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	78.63	gold quality
vena cava	UBERON:0004087	58.79	gold quality
mucosa of paranasal sinus	UBERON:0005030	55.20	gold quality
Brodmann (1909) area 46	UBERON:0006483	50.70	gold quality
oocyte	CL:0000023	48.97	gold quality
stromal cell of endometrium	CL:0002255	48.95	gold quality
colonic epithelium	UBERON:0000397	46.54	gold quality
vastus lateralis	UBERON:0001379	45.22	gold quality
skin of hip	UBERON:0001554	45.12	silver quality
quadriceps femoris	UBERON:0001377	45.10	gold quality
bone marrow cell	CL:0002092	44.95	gold quality
cortical plate	UBERON:0005343	43.45	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
germinal epithelium of ovary	UBERON:0001304	42.49	gold quality
substantia nigra pars reticulata	UBERON:0001966	42.49	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	41.91	gold quality
subthalamic nucleus	UBERON:0001906	41.53	gold quality
oviduct epithelium	UBERON:0004804	41.51	gold quality
inferior vagus X ganglion	UBERON:0005363	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
middle temporal gyrus	UBERON:0002771	41.18	gold quality
biceps brachii	UBERON:0001507	41.12	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
medulla oblongata	UBERON:0001896	41.07	gold quality
ventral tegmental area	UBERON:0002691	40.91	gold quality
lower lobe of lung	UBERON:0008949	40.77	silver quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
primary visual cortex	UBERON:0002436	40.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.56

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• Evolutionary conserved amino acid residues to be necessary for specific responsiveness of OR1A1 to odorants were identified. (PMID:17601748)
• OR1A1 activation suppresses hepatic triglyceride metabolism by modulating HES-1, PPARG, and mtGPAT expression. (PMID:25817041)
• Molecular mechanism of activation of human musk receptors OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling compounds. (PMID:29632183)
• The Third Extracellular Loop of Mammalian Odorant Receptors Is Involved in Ligand Binding. (PMID:36293357)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1a1b	ENSMUSG00000070377
mus_musculus	Or1a1	ENSMUSG00000070378
rattus_norvegicus	Or1a1	ENSRNOG00000087148
rattus_norvegicus	Or1a1b	ENSRNOG00000087980

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), 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 1A1 — Q9P1Q5 (reviewed: Q9P1Q5)

Alternative names: Olfactory receptor 17-7, Olfactory receptor OR17-11

All UniProt accessions (2): Q9P1Q5, A0A126GWA2

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_001373033, NP_055380* (*=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, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P1Q5-F1	89.17	0.63

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 (2): 5, 264

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 28 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, STAT1_02, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, STAT1_03, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, IL21_UP.V1_DN

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-2 pathways:

Category	Pathways
Sensory Perception	1
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

324 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1A1	TAAR5	O14804	488
OR1A1	AVPR1B	P47901	451
OR1A1	RTP2	Q5QGT7	444
OR1A1	RTP1	P59025	427
OR1A1	CNGA2	Q16280	404
OR1A1	GLP1R	P43220	395
OR1A1	RHO	P08100	357
OR1A1	CHRM1	P11229	353
OR1A1	SYNE1	Q8NF91	353
OR1A1	CHRM4	P08173	353
OR1A1	CHRM5	P08912	352
OR1A1	RELA	Q04206	330
OR1A1	TAS2R60	P59551	321
OR1A1	TMEM248	Q9NWD8	320
OR1A1	AKAP14	Q86UN6	317

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR1A1	ACTA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): ACTA2 (Affinity Capture-MS), EFHD1 (Affinity Capture-MS)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

291 predictions. Top by Δscore:

Variant	Effect	Δscore
17:3216485:A:AG	acceptor_gain	0.9400
17:3216486:G:GG	acceptor_gain	0.9400
17:3215690:G:GT	donor_gain	0.8900
17:3216486:GTCT:G	acceptor_gain	0.8300
17:3216388:C:T	donor_gain	0.8000
17:3215691:A:T	donor_gain	0.7200
17:3216486:GTC:G	acceptor_gain	0.7000
17:3216373:T:TA	acceptor_gain	0.6800
17:3216484:C:G	acceptor_gain	0.6800
17:3216486:GT:G	acceptor_gain	0.6800
17:3215684:G:GT	donor_gain	0.6600
17:3215685:A:T	donor_gain	0.6600
17:3216483:A:AG	acceptor_gain	0.6600
17:3216485:AGTCT:A	acceptor_gain	0.6600
17:3216486:GTCTG:G	acceptor_gain	0.6600
17:3216379:A:AG	acceptor_gain	0.6400
17:3216380:G:GG	acceptor_gain	0.6400
17:3215666:G:GT	donor_gain	0.6300
17:3216369:ATTAT:A	acceptor_gain	0.6200
17:3216483:ACAG:A	acceptor_loss	0.6200
17:3216484:CAGT:C	acceptor_loss	0.6200
17:3216485:A:G	acceptor_loss	0.6200
17:3216486:G:GA	acceptor_loss	0.6200
17:3215690:G:T	donor_gain	0.6100
17:3216481:CTACA:C	acceptor_loss	0.6100
17:3216482:TACA:T	acceptor_loss	0.6100
17:3216286:CACA:C	acceptor_gain	0.6000
17:3216547:G:GG	donor_gain	0.6000
17:3216287:ACAG:A	acceptor_gain	0.5800
17:3216357:T:TA	donor_gain	0.5500

AlphaMissense

2027 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:3216485:A:C	S289R	0.962
17:3216487:T:A	S289R	0.962
17:3216487:T:G	S289R	0.962
17:3215654:T:C	F12L	0.948
17:3215656:C:A	F12L	0.948
17:3215656:C:G	F12L	0.948
17:3215954:A:C	S112R	0.947
17:3215956:C:A	S112R	0.947
17:3215956:C:G	S112R	0.947
17:3216122:T:C	F168L	0.937
17:3216124:C:A	F168L	0.937
17:3216124:C:G	F168L	0.937
17:3215655:T:C	F12S	0.915
17:3216155:T:A	C179S	0.915
17:3216156:G:C	C179S	0.915
17:3215920:G:C	Q100H	0.912
17:3215920:G:T	Q100H	0.912
17:3215974:G:A	M118I	0.900
17:3215974:G:C	M118I	0.900
17:3215974:G:T	M118I	0.900
17:3216065:T:A	W149R	0.892
17:3216065:T:C	W149R	0.892
17:3216472:T:A	N284K	0.892
17:3216472:T:G	N284K	0.892
17:3216493:A:C	R291S	0.889
17:3216493:A:T	R291S	0.889
17:3215985:G:C	R122P	0.888
17:3216149:T:C	F177L	0.888
17:3216151:C:A	F177L	0.888
17:3216151:C:G	F177L	0.888

dbSNP variants (sampled 300 via entrez): RS1000083517 (17:3213499 C>T), RS1000357913 (17:3218529 T>C), RS1000486021 (17:3208271 C>G), RS1000815521 (17:3207633 G>A,C), RS1000825372 (17:3207360 T>A,C), RS1000983798 (17:3214865 A>G), RS1001476259 (17:3212626 G>A), RS1001619944 (17:3212354 T>C), RS1001671049 (17:3206881 G>C), RS1001825848 (17:3206233 G>C), RS1001934311 (17:3217560 G>A,C), RS1002077523 (17:3211085 G>A), RS1002943336 (17:3205829 G>A), RS1003200926 (17:3216400 C>A,T), RS1003259011 (17:3206140 T>C)

Disease associations

OMIM: gene MIM:618046 | 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

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
citronellal	affects binding	2
citronellol	affects binding	1
geraniol	increases reaction, increases secretion	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Copper	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

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