OR11H1

Summary

OR11H1 (olfactory receptor family 11 subfamily H member 1, HGNC:15404) is a protein-coding gene on chromosome 22q11.1, encoding Olfactory receptor 11H1 (Q8NG94). 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 81061 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 112 total
• MANE Select transcript: NM_001005239

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15404
Approved symbol	OR11H1
Name	olfactory receptor family 11 subfamily H member 1
Location	22q11.1
Locus type	gene with protein product
Status	Approved
Aliases	OR22-1
Ensembl gene	ENSG00000130538
Ensembl biotype	protein_coding
Entrez	81061

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000643195

RefSeq mRNA: 1 — MANE Select: NM_001005239 NM_001005239

CCDS: CCDS74807

Canonical transcript exons

ENST00000643195 — 1 exons

Exon	Start	End
ENSE00003825272	15528192	15529139

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 41.37.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	41.37	gold 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
hindlimb stylopod muscle	UBERON:0004252	36.42	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.22	gold quality
muscle tissue	UBERON:0002385	32.41	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.15	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.44	gold quality
leukocyte	CL:0000738	28.37	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
calcaneal tendon	UBERON:0003701	26.77	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.50	gold quality
vermiform appendix	UBERON:0001154	26.42	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
pancreas	UBERON:0001264	25.46	gold quality
right lobe of liver	UBERON:0001114	25.23	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
cortex of kidney	UBERON:0001225	24.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• OR11H1 Missense Variant Confers the Susceptibility to Vogt-Koyanagi-Harada Disease by Mediating Gadd45g Expression. (PMID:38168905)

Cross-species orthologs

0 orthologs

Paralogs (33): TACR2 (ENSG00000075073), PROKR2 (ENSG00000101292), GPR50 (ENSG00000102195), TACR1 (ENSG00000115353), GPR75 (ENSG00000119737), PRLHR (ENSG00000119973), GPR83 (ENSG00000123901), MCHR1 (ENSG00000128285), MTNR1B (ENSG00000134640), MCHR2 (ENSG00000152034), NPY1R (ENSG00000164128), NPY5R (ENSG00000164129), MTNR1A (ENSG00000168412), PROKR1 (ENSG00000169618), TACR3 (ENSG00000169836), OR9G1 (ENSG00000174914), OR11H4 (ENSG00000176198), OR11H6 (ENSG00000176219), OR9A2 (ENSG00000179468), GPR88 (ENSG00000181656), GPR19 (ENSG00000183150), NPY2R (ENSG00000185149), OR11G2 (ENSG00000196832), NPY4R (ENSG00000204174), OR11A1 (ENSG00000204694), OR9A1P (ENSG00000237621), OR11H12 (ENSG00000257115), OR9A4 (ENSG00000258083), OR11H2 (ENSG00000258453), OR11H7 (ENSG00000258806), NPY4R2 (ENSG00000264717), OR10X1 (ENSG00000279111), OR51F1 (ENSG00000280021)

Protein

Protein identifiers

Olfactory receptor 11H1 — Q8NG94 (reviewed: Q8NG94)

Alternative names: Olfactory receptor OR22-1

All UniProt accessions (1): A0A126GWF9

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_001005239* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050939	Olfactory_GPCR1	Family

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, glycosylation site 3, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NG94-F1	81.82	0.38

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): 112–194

Glycosylation sites (3): 13, 18, 106

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, CERIBELLI_PROMOTERS_INACTIVE_AND_BOUND_BY_NFY, 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

306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR11H1	TAS2R50	P59544	582
OR11H1	TAS2R13	Q9NYV9	580
OR11H1	TAS2R5	Q9NYW4	542
OR11H1	PRAMEF10	O60809	507
OR11H1	TAS2R10	Q9NYW0	447
OR11H1	POTEH	Q6S545	420
OR11H1	VN1R4	Q7Z5H5	392
OR11H1	RAX2	Q96IS3	391
OR11H1	TAS2R14	Q9NYV8	367
OR11H1	VN1R2	Q8NFZ6	366
OR11H1	KRTAP1-4	P0C5Y4	357
OR11H1	CCT8L2	Q96SF2	357
OR11H1	POTEG	Q6S5H5	350
OR11H1	SLC9B1	Q4ZJI4	348
OR11H1	ZNF232	Q9UNY5	325

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6ND48, B2RN74, O60412, O76099, O76100, O95047, P23271, P23272, P34982, P37069, P37072, P47884, P47890, P58170, Q15622, Q60879, Q8NG84, Q8NG94, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA2, Q8NGE0, Q8NGG1, Q8NGL0, Q8NGP2, Q8NGS2, Q8NGW1, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07, Q8NH80, Q8NHA4, Q8NHC7, Q8VEY3, Q8VFC9, Q8WZA6

Diamond homologs: A6NDH6, A6NKK0, A6NL08, B2RN74, O43749, O76002, O95006, O95007, O95221, O95222, P0C626, P0C628, P0C7N5, P0C7N8, P0DN80, P0DN82, P23266, P23267, P23270, P23274, P34984, P34986, P58173, P58181, P58182, Q13606, Q13607, Q5TZ20, Q60889, Q60890, Q60893, Q60894, Q6IFH4, Q7TR96, Q8N0Y5, Q8N127, Q8NG75, Q8NG94, Q8NGC1, Q8NGC5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	109
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

268 predictions. Top by Δscore:

Variant	Effect	Δscore
22:15528257:C:CC	donor_gain	0.7200
22:15528258:A:AC	donor_gain	0.7200
22:15528489:T:TA	donor_gain	0.6800
22:15528418:A:AT	donor_loss	0.6700
22:15528419:TACCA:T	donor_loss	0.6700
22:15528420:ATACC:A	donor_loss	0.6700
22:15528421:CAT:C	donor_loss	0.6700
22:15528422:ACAT:A	donor_loss	0.6700
22:15528423:GACAT:G	donor_loss	0.6700
22:15528417:C:CC	donor_gain	0.6300
22:15528418:A:AC	donor_gain	0.6300
22:15528230:T:C	donor_gain	0.6100
22:15528412:T:C	donor_gain	0.5800
22:15528424:AGACA:A	donor_loss	0.5800
22:15528425:GAGAC:G	donor_loss	0.5800
22:15529073:C:CC	acceptor_gain	0.5800
22:15528216:G:C	donor_gain	0.5500
22:15528531:TGATG:T	donor_gain	0.5400
22:15529075:GG:G	acceptor_gain	0.5300
22:15528393:T:A	donor_loss	0.5100
22:15529073:CT:C	acceptor_loss	0.5100
22:15529074:GCTAT:G	acceptor_loss	0.5100
22:15529075:GGC:G	acceptor_loss	0.5100
22:15528226:C:CC	donor_gain	0.5000
22:15528227:A:AC	donor_gain	0.5000
22:15528567:C:CC	donor_gain	0.5000
22:15528568:A:AC	donor_gain	0.5000
22:15528416:C:A	donor_loss	0.4800
22:15528522:C:T	acceptor_gain	0.4800
22:15528806:A:AC	donor_gain	0.4800

AlphaMissense

2072 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:15528237:T:C	F27L	0.810
22:15528239:T:A	F27L	0.810
22:15528239:T:G	F27L	0.810
22:15528252:T:C	F32L	0.770
22:15528254:C:A	F32L	0.770
22:15528254:C:G	F32L	0.770
22:15528705:T:C	F183L	0.740
22:15528707:C:A	F183L	0.740
22:15528707:C:G	F183L	0.740
22:15528660:T:C	F168L	0.683
22:15528662:T:A	F168L	0.683
22:15528662:T:G	F168L	0.683
22:15528285:T:C	F43L	0.671
22:15528287:C:A	F43L	0.671
22:15528287:C:G	F43L	0.671
22:15528669:T:C	F171L	0.628
22:15528671:C:A	F171L	0.628
22:15528671:C:G	F171L	0.628
22:15528483:T:C	F109L	0.627
22:15528485:T:A	F109L	0.627
22:15528485:T:G	F109L	0.627
22:15528516:T:C	F120L	0.571
22:15528518:C:A	F120L	0.571
22:15528518:C:G	F120L	0.571
22:15528504:T:C	F116L	0.570
22:15528506:T:A	F116L	0.570
22:15528506:T:G	F116L	0.570

dbSNP variants (sampled 300 via entrez): RS1001681099 (22:15527417 T>A,G), RS1001815162 (22:15528591 T>A,C), RS1005477883 (22:15526517 C>A,T), RS1010411914 (22:15528651 G>A), RS1014544652 (22:15526593 T>A), RS1016948733 (22:15527156 CTT>C,CT), RS1021840523 (22:15528619 A>G,T), RS10222214 (22:15528360 C>A,T), RS10222248 (22:15528255 T>A), RS1026159697 (22:15528569 G>A,C,T), RS1034589386 (22:15528586 G>A,C,T), RS1035028362 (22:15527366 A>G,T), RS1038921871 (22:15528681 A>C,G), RS1042814500 (22:15527469 A>G), RS1042847138 (22:15526708 G>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
theaflavin-3,3’-digallate	affects expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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