OR8H1

Summary

OR8H1 (olfactory receptor family 8 subfamily H member 1, HGNC:14824) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 8H1 (Q8NGG4). 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 219469 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001005199

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14824
Approved symbol	OR8H1
Name	olfactory receptor family 8 subfamily H member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181693
Ensembl biotype	protein_coding
Entrez	219469

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000313022, ENST00000641600

RefSeq mRNA: 1 — MANE Select: NM_001005199 NM_001005199

CCDS: CCDS31526

Canonical transcript exons

ENST00000626711 — 0 exons

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 40.07.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	40.07	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.19	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
skeletal muscle tissue	UBERON:0001134	35.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.27	gold quality
granulocyte	CL:0000094	34.73	gold quality
monocyte	CL:0000576	34.25	gold quality
leukocyte	CL:0000738	34.14	gold quality
muscle tissue	UBERON:0002385	33.95	gold quality
bone marrow	UBERON:0002371	32.85	gold quality
duodenum	UBERON:0002114	32.50	gold quality
ectocervix	UBERON:0012249	31.74	gold quality
liver	UBERON:0002107	29.92	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.19	gold quality
uterine cervix	UBERON:0000002	29.10	gold quality
blood	UBERON:0000178	28.93	gold quality
right coronary artery	UBERON:0001625	28.02	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	27.56	gold quality
placenta	UBERON:0001987	27.51	gold quality
muscle of leg	UBERON:0001383	27.29	gold quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gastrocnemius	UBERON:0001388	26.41	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

Regulation

Is transcription factor: no

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8h10	ENSMUSG00000070875
mus_musculus	Or8h9	ENSMUSG00000075168
mus_musculus	Or8h8	ENSMUSG00000075169
mus_musculus	Or8h7	ENSMUSG00000075170
mus_musculus	Or8h6	ENSMUSG00000086338
rattus_norvegicus		ENSRNOG00000072999
rattus_norvegicus	Or8h7b	ENSRNOG00000073800
rattus_norvegicus	Or8h6	ENSRNOG00000076696
rattus_norvegicus	Or8h10c	ENSRNOG00000080512
rattus_norvegicus	Or8h10	ENSRNOG00000081867
rattus_norvegicus	Or8h11	ENSRNOG00000088724
rattus_norvegicus	Or8h9	ENSRNOG00000089485
rattus_norvegicus	Or8h7	ENSRNOG00000089624

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), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 8H1 — Q8NGG4 (reviewed: Q8NGG4)

Alternative names: Olfactory receptor OR11-180

All UniProt accessions (2): A0A126GVW6, Q8NGG4

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_001005199* (*=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-Q8NGG4-F1	89.59	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): 96–188

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: 19 (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, CAMPS_COLON_CANCER_COPY_NUMBER_UP, 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, NFE2L2.V2, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

104 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8H1	TAS2R60	P59551	506
OR8H1	TMEM248	Q9NWD8	505
OR8H1	RASGEF1C	Q8N431	474
OR8H1	ATP1B4	Q9UN42	419
OR8H1	STX10	O60499	394
OR8H1	CSHL1	Q14406	379
OR8H1	NXNL1	Q96CM4	375
OR8H1	SYTL3	Q4VX76	374
OR8H1	INHBC	P55103	358
OR8H1	TNP2	Q05952	356
OR8H1	NHLH2	Q02577	324
OR8H1	EIF2B1	Q14232	322
OR8H1	RNF151	Q2KHN1	309
OR8H1	CBLL2	Q8N7E2	304
OR8H1	TMEM125	Q96AQ2	260

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: 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

53 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	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

204 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56290071:CAAA:C	acceptor_gain	0.7700
11:56290326:C:CA	donor_gain	0.7300
11:56290327:C:A	donor_gain	0.7100
11:56290072:A:T	acceptor_gain	0.7000
11:56290067:A:C	acceptor_gain	0.6900
11:56290307:T:A	donor_gain	0.6700
11:56290060:C:CT	acceptor_gain	0.6200
11:56290061:A:T	acceptor_gain	0.6100
11:56290070:CCAAA:C	acceptor_gain	0.6100
11:56290304:A:AC	donor_gain	0.5900
11:56290356:G:C	donor_gain	0.5900
11:56290074:A:C	acceptor_gain	0.5800
11:56290546:C:CT	donor_gain	0.5800
11:56290547:T:TT	donor_gain	0.5800
11:56291059:CCA:C	donor_gain	0.5800
11:56290781:C:CT	acceptor_gain	0.5700
11:56291053:TTC:T	donor_gain	0.5700
11:56291054:TCT:T	donor_gain	0.5700
11:56290260:C:A	donor_gain	0.5600
11:56291039:A:C	donor_gain	0.5600
11:56290074:A:AC	acceptor_gain	0.5500
11:56290304:AGTT:A	donor_gain	0.5500
11:56291015:T:TA	donor_gain	0.5400
11:56291016:C:A	donor_gain	0.5400
11:56290193:ACT:A	acceptor_gain	0.5300
11:56290308:C:A	donor_gain	0.5300
11:56290586:C:CT	acceptor_gain	0.5300
11:56290665:A:C	donor_gain	0.5300
11:56290746:A:T	acceptor_gain	0.5300
11:56290395:G:C	acceptor_gain	0.5200

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000464304 (11:56293040 A>C,G,T), RS1000557178 (11:56292764 A>G), RS1001182833 (11:56292671 CTGTAA>C), RS1002016427 (11:56292730 A>G,T), RS1002111204 (11:56292588 T>C), RS1002289810 (11:56288093 A>G), RS1002681186 (11:56290290 T>C), RS1003189204 (11:56289996 T>A), RS1003417714 (11:56290520 A>G,T), RS1003682808 (11:56291491 G>A), RS1003779103 (11:56291205 C>A,T), RS1005294896 (11:56288497 A>G), RS1005595929 (11:56293489 A>G), RS1005699133 (11:56294104 C>T), RS1005795549 (11:56293808 G>A)

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
Zoledronic Acid	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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