OR51Q1

Summary

OR51Q1 (olfactory receptor family 51 subfamily Q member 1, HGNC:14851) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51Q1 (Q8NH59). 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 390061 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001004757

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14851
Approved symbol	OR51Q1
Name	olfactory receptor family 51 subfamily Q member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000167360
Ensembl biotype	protein_coding
Entrez	390061

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000300778

RefSeq mRNA: 1 — MANE Select: NM_001004757 NM_001004757

CCDS: CCDS31381

Canonical transcript exons

ENST00000300778 — 1 exons

Exon	Start	End
ENSE00001276439	5422111	5423206

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 48.28.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	48.28	silver quality
colonic epithelium	UBERON:0000397	41.78	gold quality
calcaneal tendon	UBERON:0003701	41.04	gold quality
granulocyte	CL:0000094	40.09	gold quality
bone marrow cell	CL:0002092	39.15	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
tonsil	UBERON:0002372	35.61	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.90	gold quality
mucosa of stomach	UBERON:0001199	33.59	gold quality
bone marrow	UBERON:0002371	33.27	gold quality
liver	UBERON:0002107	32.45	gold quality
muscle tissue	UBERON:0002385	32.17	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right hemisphere of cerebellum	UBERON:0014890	31.34	gold quality
leukocyte	CL:0000738	30.21	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.73	gold quality
gall bladder	UBERON:0002110	29.45	silver quality
corpus callosum	UBERON:0002336	29.42	gold quality
urinary bladder	UBERON:0001255	29.37	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	27.73	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.53	gold quality
adrenal tissue	UBERON:0018303	27.51	gold quality
blood	UBERON:0000178	27.14	gold quality
superior frontal gyrus	UBERON:0002661	27.14	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51q1c	ENSMUSG00000094063
mus_musculus	Or51q1	ENSMUSG00000094520
rattus_norvegicus	Or51q1	ENSRNOG00000077204
rattus_norvegicus	Or51q1e	ENSRNOG00000086459
rattus_norvegicus	Or51q1d	ENSRNOG00000088630

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), OR51V1 (ENSG00000176742), OR52E2 (ENSG00000176787), OR51L1 (ENSG00000176798), OR51G2 (ENSG00000176893), OR51A7 (ENSG00000176895), OR51T1 (ENSG00000176900), OR51S1 (ENSG00000176922), OR51F2 (ENSG00000176925), OR51E1 (ENSG00000180785), OR56B4 (ENSG00000180919), OR52E4 (ENSG00000180974), OR52N2 (ENSG00000180988), OR52N1 (ENSG00000181001), OR52N5 (ENSG00000181009), OR56B2 (ENSG00000181017), OR56B1 (ENSG00000181023), OR52N4 (ENSG00000181074), OR52P1 (ENSG00000181109), OR52D1 (ENSG00000181609), OR52H1 (ENSG00000181616), OR52K2 (ENSG00000181963), OR52A1 (ENSG00000182070), OR51B4 (ENSG00000183251), OR52E8 (ENSG00000183269), OR52L1 (ENSG00000183313), OR51M1 (ENSG00000184698), OR52B6 (ENSG00000187747), OR51I2 (ENSG00000187918), OR52K1 (ENSG00000196778), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 51Q1 — Q8NH59 (reviewed: Q8NH59)

All UniProt accessions (1): Q8NH59

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon at position Arg-236 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004757* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (25 total): topological domain 8, transmembrane region 7, sequence variant 6, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NH59-F1	85.83	0.49

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): 99–191

Glycosylation sites (1): 6

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_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, 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, ZNF274_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (6): cellular response to lipid (GO:0071396), system process (GO:0003008), 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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), signaling receptor activity (GO:0038023)

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
response to lipid	1
cellular response to chemical stimulus	1
multicellular organismal process	1
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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51Q1	MAGEB16	A2A368	472
OR51Q1	ANKDD1B	A6NHY2	462
OR51Q1	PDE4DIP	Q5VU43	451
OR51Q1	ZNF142	P52746	447
OR51Q1	FAM220A	Q7Z4H9	447
OR51Q1	MS4A14	Q96JA4	444
OR51Q1	MOB3C	Q70IA8	438
OR51Q1	RPTN	Q6XPR3	434
OR51Q1	ZNF117	Q03924	417
OR51Q1	DNHD1	Q96M86	399
OR51Q1	FTCD	O95954	398
OR51Q1	KPRP	Q5T749	392
OR51Q1	PRM3	Q9NNZ6	370
OR51Q1	ABCA2	Q9BZC7	357
OR51Q1	GOLGA8R	I6L899	350

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NGY5, O88628, P0C646, Q6IFG1, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH6, Q8NGH7, Q8NGH9, Q8NGI0, Q8NGI2, Q8NGJ2, Q8NGJ3, Q8NGJ4, Q8NGJ5, Q8NGJ6, Q8NGJ7, Q8NGJ9, Q8NGK1, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NH53, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH61, Q8NH63, Q8NH64, Q8TCB6, Q8VBV9, Q96RD2, Q96RD3, Q9H255

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

256 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5422632:T:TA	donor_gain	0.6900
11:5422633:A:AA	donor_gain	0.6900
11:5422852:A:AG	donor_gain	0.6400
11:5422382:T:G	donor_gain	0.6200
11:5422751:AG:A	acceptor_gain	0.5900
11:5422752:GG:G	acceptor_gain	0.5900
11:5422556:C:G	donor_gain	0.5800
11:5422621:G:GT	donor_gain	0.5800
11:5422945:GCT:G	acceptor_gain	0.5700
11:5422740:T:G	acceptor_gain	0.5600
11:5422751:A:AG	acceptor_gain	0.5500
11:5422752:G:GG	acceptor_gain	0.5500
11:5422944:A:AG	acceptor_gain	0.5400
11:5422945:G:GG	acceptor_gain	0.5400
11:5422793:GCTG:G	donor_gain	0.5300
11:5422748:ACCAG:A	acceptor_gain	0.5000
11:5422752:GGAT:G	acceptor_gain	0.5000
11:5422797:G:GG	donor_gain	0.5000
11:5422329:C:T	donor_gain	0.4900
11:5422380:C:T	donor_gain	0.4900
11:5422465:TTCA:T	donor_gain	0.4900
11:5422536:G:GT	donor_gain	0.4900
11:5422555:GC:G	donor_gain	0.4800
11:5422562:C:A	donor_gain	0.4800
11:5422750:CA:C	acceptor_loss	0.4700
11:5422752:G:GA	acceptor_loss	0.4700
11:5422559:T:G	donor_gain	0.4600
11:5422643:T:A	donor_gain	0.4600
11:5422493:C:T	donor_gain	0.4500
11:5422502:C:G	donor_gain	0.4500

AlphaMissense

2075 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5422708:T:C	F170L	0.750
11:5422710:C:A	F170L	0.750
11:5422710:C:G	F170L	0.750
11:5422996:T:C	F266L	0.692
11:5422998:T:A	F266L	0.692
11:5422998:T:G	F266L	0.692
11:5422240:T:C	F14L	0.627
11:5422242:C:A	F14L	0.627
11:5422242:C:G	F14L	0.627
11:5422525:T:C	F109L	0.594
11:5422527:C:A	F109L	0.594
11:5422527:C:G	F109L	0.594
11:5422465:T:C	F89L	0.575
11:5422467:C:A	F89L	0.575
11:5422467:C:G	F89L	0.575

dbSNP variants (sampled 300 via entrez): RS1000628252 (11:5420117 A>G), RS1001417440 (11:5420346 A>T), RS1002046728 (11:5420860 A>G), RS1002246071 (11:5421098 A>G), RS1002906938 (11:5423243 T>A,G), RS1002959272 (11:5423496 A>G), RS1004037829 (11:5423207 G>A,C), RS1005437881 (11:5421395 A>G), RS1006473131 (11:5422447 G>A,C), RS1006990196 (11:5421457 C>T), RS1007435795 (11:5420443 T>C), RS1008992210 (11:5423697 A>C,G), RS1009107625 (11:5421527 C>T), RS1009397816 (11:5420622 T>C), RS1009736508 (11:5420797 G>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

8 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55
GCST011379_7	Cutaneous mastocytosis (childhood)	9.000000e-18
GCST011380_3	Cutaneous mastocytosis (adult)	1.000000e-09
GCST011381_6	Cutaneous mastocytosis	2.000000e-25
GCST011382_4	Systemic mastocytosis	7.000000e-12
GCST011383_19	Mastocytosis	8.000000e-35

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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