OR8U3

Summary

OR8U3 (olfactory receptor family 8 subfamily U member 3, HGNC:14841) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 8U3 (Q8NH85). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 219479 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_001004744

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14841
Approved symbol	OR8U3
Name	olfactory receptor family 8 subfamily U member 3
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000279961
Ensembl biotype	protein_coding
Entrez	219479

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000623286

RefSeq mRNA: 1 — MANE Select: NM_001004744 NM_001004744

Canonical transcript exons

ENST00000623286 — 1 exons

Exon	Start	End
ENSE00003785276	56417258	56418232

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.74	gold quality
leukocyte	CL:0000738	28.64	gold quality
liver	UBERON:0002107	28.32	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.90	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.06	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
calcaneal tendon	UBERON:0003701	25.05	gold quality
muscle of leg	UBERON:0001383	24.80	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	24.03	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	Or8u3	ENSMUSG00000050577
rattus_norvegicus	Or8u3	ENSRNOG00000031811

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 8U3 — Q8NH85 (reviewed: Q8NH85)

Alternative names: Olfactory receptor 5R1, Olfactory receptor OR11-185

All UniProt accessions (1): Q8NH85

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_001004744* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (27 total): sequence variant 9, topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH85-F1	88.36	0.62

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): 265

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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-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
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

252 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8U3	SEMG2	Q02383	582
OR8U3	C5orf67	F2Z3F1	577
OR8U3	SEMG1	P04279	542
OR8U3	CALY	Q9NYX4	369
OR8U3	METTL21C	Q5VZV1	353
OR8U3	NINL	Q9Y2I6	348
OR8U3	TEX101	Q9BY14	311
OR8U3	GPALPP1	Q8IXQ4	306
OR8U3	SLC26A7	Q8TE54	305
OR8U3	ACSF3	Q4G176	300
OR8U3	CLU	P10909	299
OR8U3	LTF	P02788	298
OR8U3	ERC1	Q8IUD2	290
OR8U3	CCDC82	Q8N4S0	275
OR8U3	UBR5	O95071	271

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NCV1, O95221, P0C7N1, P0C7N5, Q60881, Q60888, Q6IEU7, Q8NGA8, Q8NGB6, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD4, Q8NGD5, Q8NGE8, Q8NGF8, Q8NGI4, Q8NGI6, Q8NGJ1, Q8NGM9, Q8NGP8, Q8NGP9, Q8NGS9, Q8NGT0, Q8NH01, Q8NH10, Q8NH18, Q8NH21, Q8NH41, Q8NH42, Q8NH43, Q8NH49, Q8NH69, Q8NH85, Q8VEW5, Q8VF65, Q8VFD3

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

401 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56417564:G:T	acceptor_gain	0.7300
11:56417887:C:CC	acceptor_gain	0.7000
11:56418185:T:TA	donor_gain	0.6900
11:56418146:C:A	donor_gain	0.6500
11:56417579:G:C	acceptor_gain	0.6200
11:56418222:A:C	donor_gain	0.6200
11:56417595:A:AC	acceptor_gain	0.6100
11:56418145:C:CA	donor_gain	0.6100
11:56418118:CTG:C	donor_gain	0.6000
11:56418119:TGT:T	donor_gain	0.6000
11:56418120:GTG:G	donor_gain	0.6000
11:56417815:CTCTT:C	donor_gain	0.5900
11:56417795:TGC:T	donor_gain	0.5800
11:56417801:CAG:C	donor_gain	0.5800
11:56417885:GG:G	acceptor_gain	0.5800
11:56418135:A:C	donor_gain	0.5800
11:56417460:A:C	acceptor_gain	0.5700
11:56417468:CAGTG:C	acceptor_gain	0.5700
11:56417586:G:C	acceptor_gain	0.5700
11:56417595:A:C	acceptor_gain	0.5700
11:56417910:A:C	acceptor_gain	0.5700
11:56417970:T:A	donor_gain	0.5700
11:56417925:C:CT	donor_gain	0.5600
11:56418060:G:C	donor_gain	0.5600
11:56418151:A:AC	donor_gain	0.5600
11:56418212:A:C	donor_gain	0.5600
11:56417716:A:C	donor_gain	0.5500
11:56417909:CA:C	acceptor_gain	0.5500
11:56418141:A:C	donor_gain	0.5500
11:56417395:C:CC	acceptor_gain	0.5400

AlphaMissense

2127 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56417741:G:C	F164L	0.834
11:56417741:G:T	F164L	0.834
11:56417743:A:G	F164L	0.834
11:56417702:G:C	F177L	0.823
11:56417702:G:T	F177L	0.823
11:56417704:A:G	F177L	0.823
11:56417777:G:C	S152R	0.794
11:56417777:G:T	S152R	0.794
11:56417779:T:G	S152R	0.794
11:56418197:G:C	F12L	0.793
11:56418197:G:T	F12L	0.793
11:56418199:A:G	F12L	0.793
11:56418140:A:C	F31L	0.775
11:56418140:A:T	F31L	0.775
11:56418142:A:G	F31L	0.775
11:56417988:A:C	M82R	0.771
11:56417988:A:T	M82K	0.767
11:56417921:A:C	F104L	0.725
11:56417921:A:T	F104L	0.725
11:56417923:A:G	F104L	0.725
11:56417951:G:C	F94L	0.681
11:56417951:G:T	F94L	0.681
11:56417953:A:G	F94L	0.681
11:56418149:A:C	F28L	0.679
11:56418149:A:T	F28L	0.679
11:56418151:A:G	F28L	0.679
11:56417402:A:C	F277L	0.668
11:56417402:A:T	F277L	0.668
11:56417404:A:G	F277L	0.668
11:56417480:G:C	F251L	0.667

dbSNP variants (sampled 300 via entrez): RS1000560105 (11:56419666 C>T), RS1001192985 (11:56417070 G>T), RS1001928995 (11:56419039 G>A), RS1005044686 (11:56417079 C>T), RS1007034726 (11:56417134 G>A,T), RS1007050271 (11:56419731 T>C), RS1007244373 (11:56419529 C>G,T), RS1007555963 (11:56420057 T>C,G), RS1008709462 (11:56418338 C>G), RS1008816222 (11:56418657 C>T), RS1009140764 (11:56418400 A>G,T), RS1009329493 (11:56417986 C>A), RS1009976199 (11:56418065 G>A), RS1010331626 (11:56416857 A>G), RS1011440572 (11:56419436 A>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

1 associations (top):

Study	Trait	p-value
GCST009602_79	Metabolic syndrome	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0000195	metabolic syndrome

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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