OR8A1

Summary

OR8A1 (olfactory receptor family 8 subfamily A member 1, HGNC:8469) is a protein-coding gene on chromosome 11q24.2, encoding Olfactory receptor 8A1 (Q8NGG7). 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 390275 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_001005194

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8469
Approved symbol	OR8A1
Name	olfactory receptor family 8 subfamily A member 1
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	OST025
Ensembl gene	ENSG00000196119
Ensembl biotype	protein_coding
Entrez	390275

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000284287, ENST00000641165, ENST00000641670, ENST00000642111

RefSeq mRNA: 1 — MANE Select: NM_001005194 NM_001005194

CCDS: CCDS31712

Canonical transcript exons

ENST00000284287 — 1 exons

Exon	Start	End
ENSE00001014261	124569997	124571374

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 73.53.

Top tissues by expression

109 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	73.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.80	gold quality
sural nerve	UBERON:0015488	52.14	gold quality
calcaneal tendon	UBERON:0003701	50.43	silver quality
liver	UBERON:0002107	48.65	gold quality
corpus callosum	UBERON:0002336	48.57	silver quality
placenta	UBERON:0001987	45.74	gold quality
monocyte	CL:0000576	43.64	gold quality
adrenal tissue	UBERON:0018303	43.56	silver quality
leukocyte	CL:0000738	43.31	gold quality
endometrium	UBERON:0001295	42.41	silver quality
bone marrow	UBERON:0002371	41.08	gold quality
muscle tissue	UBERON:0002385	40.89	gold quality
skeletal muscle tissue	UBERON:0001134	40.48	gold quality
superior frontal gyrus	UBERON:0002661	40.37	gold quality
cortical plate	UBERON:0005343	39.76	gold quality
stromal cell of endometrium	CL:0002255	39.12	gold quality
blood	UBERON:0000178	38.14	silver quality
primary visual cortex	UBERON:0002436	38.04	gold quality
granulocyte	CL:0000094	38.02	gold quality
smooth muscle tissue	UBERON:0001135	37.78	gold quality
tonsil	UBERON:0002372	37.55	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.13	gold quality
lower esophagus mucosa	UBERON:0035834	36.89	gold quality
right lobe of liver	UBERON:0001114	36.81	gold quality
duodenum	UBERON:0002114	36.77	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
gastrocnemius	UBERON:0001388	36.38	gold quality
bone marrow cell	CL:0002092	36.16	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.22
E-MTAB-6386	no	55.03

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): LHX2

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8a1b	ENSMUSG00000061165
mus_musculus	Or8a1	ENSMUSG00000110526
rattus_norvegicus	Or8a1b	ENSRNOG00000074152
rattus_norvegicus	Or8a1	ENSRNOG00000078041

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 8A1 — Q8NGG7 (reviewed: Q8NGG7)

Alternative names: OST025, Olfactory receptor OR11-318

All UniProt accessions (2): Q8NGG7, A0A286YEW5

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_001005194* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGG7-F1	87.02	0.69

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): 114–195

Glycosylation sites (1): 22

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 26 (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, chr11q24, 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, GSE13306_RA_VS_UNTREATED_TCONV_DN, GSE13493_CD4INTCD8POS_VS_CD8POS_THYMOCYTE_DN, GSE17721_PAM3CSK4_VS_CPG_4H_BMDC_UP

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

148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8A1	NRIP3	Q9NQ35	445
OR8A1	CDHR2	Q9BYE9	410
OR8A1	ADAMTS19	Q8TE59	398
OR8A1	MORC1	Q86VD1	390
OR8A1	EIF3G	O75821	355
OR8A1	L1CAM	P32004	302
OR8A1	ASIC3	Q9UHC3	301
OR8A1	TNIK	Q9UKE5	298
OR8A1	SMYD3	Q9H7B4	252
OR8A1	P2RY1	P47900	247
OR8A1	CAPN2	P17655	232
OR8A1	MRPL47	Q9HD33	229
OR8A1	SLC38A7	Q9NVC3	203
OR8A1	NCOA5	Q9HCD5	202
OR8A1	PTPN5	P54829	169

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: B2RN74, O43869, O60431, P0C617, P23272, P47883, Q5JRS4, Q6IF36, Q6IFN5, Q8NG75, Q8NG78, Q8NG84, Q8NG94, Q8NGC0, Q8NGC1, Q8NGC5, Q8NGC7, Q8NGC9, Q8NGE7, Q8NGG2, Q8NGG3, Q8NGG7, Q8NGH3, Q8NGI9, Q8NGK9, Q8NGL3, Q8NGP2, Q8NGQ1, Q8NGQ3, Q8NGR1, Q8NGR2, Q8NGS6, Q8NGT5, Q8NGV5, Q8NGW1, Q8NGW6, Q8NGX6, Q8NGX8, Q8NGY0, Q8NGZ0

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

201 predictions. Top by Δscore:

Variant	Effect	Δscore
11:124570671:G:GT	donor_gain	0.8200
11:124570705:A:G	donor_gain	0.7600
11:124571002:G:GT	donor_gain	0.7400
11:124570625:G:GG	donor_gain	0.7300
11:124570700:T:G	donor_gain	0.7100
11:124570696:G:GT	donor_gain	0.6900
11:124570699:GT:G	donor_gain	0.6900
11:124570700:TT:T	donor_gain	0.6900
11:124570814:G:T	donor_gain	0.6800
11:124570777:A:AG	acceptor_gain	0.6500
11:124570855:GCC:G	donor_gain	0.6300
11:124570742:TCAC:T	donor_gain	0.5900
11:124570778:T:G	acceptor_gain	0.5800
11:124570863:A:T	donor_gain	0.5800
11:124570749:C:G	donor_gain	0.5700
11:124570771:A:AG	acceptor_gain	0.5500
11:124570786:A:AG	acceptor_gain	0.5500
11:124570787:G:GG	acceptor_gain	0.5500
11:124570692:C:G	donor_gain	0.5400
11:124570787:GCATC:G	acceptor_gain	0.5400
11:124571078:AGT:A	acceptor_gain	0.5400
11:124571079:GTG:G	acceptor_gain	0.5400
11:124570704:G:GT	donor_gain	0.5300
11:124571002:G:T	donor_gain	0.5300
11:124570406:G:GT	donor_gain	0.5200
11:124570609:T:G	donor_gain	0.5200
11:124570783:TCCA:T	acceptor_loss	0.5200
11:124570784:CCAGC:C	acceptor_loss	0.5200
11:124570785:CA:C	acceptor_loss	0.5200
11:124570786:AGCAT:A	acceptor_loss	0.5200

AlphaMissense

2023 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:124570153:T:C	F29L	0.952
11:124570155:C:A	F29L	0.952
11:124570155:C:G	F29L	0.952
11:124570987:A:C	S307R	0.904
11:124570989:C:A	S307R	0.904
11:124570989:C:G	S307R	0.904
11:124570747:A:C	S227R	0.895
11:124570749:C:A	S227R	0.895
11:124570749:C:G	S227R	0.895
11:124570154:T:C	F29S	0.881
11:124570484:G:C	R139P	0.853
11:124570210:T:C	F48L	0.845
11:124570212:C:A	F48L	0.845
11:124570212:C:G	F48L	0.845
11:124570648:T:C	F194L	0.839
11:124570650:C:A	F194L	0.839
11:124570650:C:G	F194L	0.839
11:124570824:A:C	K252N	0.819
11:124570824:A:T	K252N	0.819
11:124570154:T:G	F29C	0.809
11:124570473:G:A	M135I	0.808
11:124570473:G:C	M135I	0.808
11:124570473:G:T	M135I	0.808
11:124570867:T:C	F267L	0.803
11:124570869:C:A	F267L	0.803
11:124570869:C:G	F267L	0.803
11:124570482:C:A	D138E	0.796
11:124570482:C:G	D138E	0.796
11:124570974:T:A	N302K	0.781
11:124570974:T:G	N302K	0.781

dbSNP variants (sampled 300 via entrez): RS1000009950 (11:124571362 A>C,G), RS1000967324 (11:124570082 CTCCCATGCA>C), RS1001108690 (11:124569868 T>C), RS1003000164 (11:124571416 C>T), RS1003515181 (11:124571804 G>A,C), RS1004883182 (11:124571171 G>A), RS1004914253 (11:124571520 A>C), RS1005136289 (11:124570619 C>G,T), RS1005214828 (11:124569957 C>A,G), RS1005529404 (11:124569099 A>G), RS1006922338 (11:124568842 C>A), RS1007404000 (11:124569158 A>C), RS1008652374 (11:124570961 T>A), RS1009057549 (11:124571280 T>C), RS1010067835 (11:124569794 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

1 associations (top):

Study	Trait	p-value
GCST002696_9	Anxiety disorder	1.000000e-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
pentanal	increases expression	1
Benzo(a)pyrene	affects methylation	1

Clinical trials (associated diseases)

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