OR8U1

Summary

OR8U1 (olfactory receptor family 8 subfamily U member 1, HGNC:19611) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 8U1 (Q8NH10). 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 219417 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_001005204

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19611
Approved symbol	OR8U1
Name	olfactory receptor family 8 subfamily U member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172199
Ensembl biotype	protein_coding
Entrez	219417

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000302270

RefSeq mRNA: 1 — MANE Select: NM_001005204 NM_001005204

CCDS: CCDS41647

Canonical transcript exons

ENST00000302270 — 1 exons

Exon	Start	End
ENSE00001142881	56375624	56376553

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 97.87.

Top tissues by expression

122 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	97.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	56.05	gold quality
lower esophagus mucosa	UBERON:0035834	39.70	gold quality
granulocyte	CL:0000094	38.08	gold quality
apex of heart	UBERON:0002098	37.83	silver 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
leukocyte	CL:0000738	33.43	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
monocyte	CL:0000576	33.34	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
liver	UBERON:0002107	28.97	gold quality
duodenum	UBERON:0002114	28.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.65	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.34	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	25.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.66

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8u9	ENSMUSG00000075200
rattus_norvegicus	Or8u9	ENSRNOG00000049721

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), 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), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 8U1 — Q8NH10 (reviewed: Q8NH10)

All UniProt accessions (1): Q8NH10

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_001005204* (*=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-Q8NH10-F1	89.88	0.70

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: 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, MARTENS_TRETINOIN_RESPONSE_UP, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, 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

422 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8U1	METTL21C	Q5VZV1	591
OR8U1	NINL	Q9Y2I6	532
OR8U1	KRTAP10-6	P60371	478
OR8U1	ZNF717	Q9BY31	474
OR8U1	FAM194C	Q8ND61	431
OR8U1	TUBA1B	P04687	419
OR8U1	KHSRP	Q92945	411
OR8U1	MEGF11	A6BM72	410
OR8U1	MUC6	Q6W4X9	404
OR8U1	ZNF701	Q9NV72	400
OR8U1	TAS2R43	P59537	398
OR8U1	MUC3A	Q02505	393
OR8U1	GPANK1	O95872	391
OR8U1	EPPK1	P58107	379
OR8U1	ERC1	Q8IUD2	360

IntAct

0 interactions, top by confidence:

BioGRID (1): OR8U1 (Positive Genetic)

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: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

238 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56376279:T:G	acceptor_gain	0.8100
11:56376277:C:G	acceptor_gain	0.7600
11:56376278:AT:A	acceptor_gain	0.7500
11:56376278:A:AG	acceptor_gain	0.7400
11:56375740:G:GA	donor_gain	0.7200
11:56376276:ACAT:A	acceptor_gain	0.7200
11:56376276:A:AG	acceptor_gain	0.7100
11:56375738:GTG:G	donor_gain	0.7000
11:56376292:T:A	acceptor_gain	0.6800
11:56376268:T:TA	acceptor_gain	0.6600
11:56376279:T:TA	acceptor_gain	0.6500
11:56376258:T:TA	acceptor_gain	0.6400
11:56376287:A:AG	acceptor_gain	0.6100
11:56376284:A:AG	acceptor_gain	0.6000
11:56375687:G:GT	donor_gain	0.5900
11:56376494:A:AG	acceptor_gain	0.5900
11:56376495:G:GG	acceptor_gain	0.5900
11:56375799:T:G	donor_gain	0.5800
11:56375741:G:GG	donor_gain	0.5500
11:56376288:T:G	acceptor_gain	0.5500
11:56376296:A:AG	acceptor_gain	0.5500
11:56375696:A:G	donor_gain	0.5400
11:56376405:A:AG	acceptor_gain	0.5300
11:56376406:G:GG	acceptor_gain	0.5300
11:56376300:T:A	acceptor_gain	0.5100
11:56376285:T:G	acceptor_gain	0.4900
11:56376297:T:G	acceptor_gain	0.4900
11:56376304:G:GT	donor_gain	0.4900
11:56376340:G:GT	donor_gain	0.4900
11:56375736:CAGTG:C	donor_gain	0.4800

AlphaMissense

2061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56375657:T:C	F12L	0.890
11:56375659:T:A	F12L	0.890
11:56375659:T:G	F12L	0.890
11:56376152:T:C	F177L	0.861
11:56376154:C:A	F177L	0.861
11:56376154:C:G	F177L	0.861
11:56375916:C:A	A98D	0.848
11:56376113:T:C	F164L	0.835
11:56376115:C:A	F164L	0.835
11:56376115:C:G	F164L	0.835
11:56376077:A:C	S152R	0.829
11:56376079:C:A	S152R	0.829
11:56376079:C:G	S152R	0.829
11:56375933:T:C	F104L	0.806
11:56375935:T:A	F104L	0.806
11:56375935:T:G	F104L	0.806
11:56375915:G:C	A98P	0.805
11:56375927:G:C	G102R	0.795
11:56375930:T:C	C103R	0.782
11:56375714:T:C	F31L	0.764
11:56375716:C:A	F31L	0.764
11:56375716:C:G	F31L	0.764
11:56375928:G:A	G102D	0.758
11:56375988:G:C	R122P	0.755
11:56375977:G:A	M118I	0.749
11:56375977:G:C	M118I	0.749
11:56375977:G:T	M118I	0.749
11:56375658:T:C	F12S	0.745
11:56375804:T:C	F61L	0.733
11:56375806:C:A	F61L	0.733

dbSNP variants (sampled 300 via entrez): RS1001805247 (11:56375296 A>G,T), RS1002615736 (11:56375420 C>A), RS1003071816 (11:56376563 T>C), RS1003077549 (11:56376364 A>C,G), RS1003662304 (11:56374276 A>G), RS1003827050 (11:56374457 T>C), RS1004605639 (11:56375032 T>A,C), RS1004666599 (11:56374138 A>G), RS1004954552 (11:56373900 G>A), RS1006665427 (11:56376849 G>T), RS1006965370 (11:56376646 G>T), RS1008223882 (11:56375310 C>A,G), RS1009736730 (11:56374908 A>C,G), RS1010033229 (11:56374513 G>A,T), RS1013128771 (11:56376801 A>C)

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
GCST010242_533	HDL cholesterol levels	6.000000e-45

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, decreases methylation	2
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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