OR51D1

Summary

OR51D1 (olfactory receptor family 51 subfamily D member 1, HGNC:15193) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51D1 (Q8NGF3). 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 390038 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_001004751

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15193
Approved symbol	OR51D1
Name	olfactory receptor family 51 subfamily D member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	OR51D1Q
Ensembl gene	ENSG00000197428
Ensembl biotype	protein_coding
Entrez	390038

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000357605, ENST00000641817

RefSeq mRNA: 1 — MANE Select: NM_001004751 NM_001004751

CCDS: CCDS31357

Canonical transcript exons

ENST00000641817 — 2 exons

Exon	Start	End
ENSE00003812499	4637477	4637753
ENSE00003814267	4639777	4643060

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 44.32.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	44.32	gold quality
colonic epithelium	UBERON:0000397	41.17	gold quality
bone marrow cell	CL:0002092	38.02	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
sural nerve	UBERON:0015488	34.98	gold quality
granulocyte	CL:0000094	34.18	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.69	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	31.63	gold quality
monocyte	CL:0000576	31.51	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	29.51	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
lymph node	UBERON:0000029	28.86	gold quality
tonsil	UBERON:0002372	28.66	gold quality
right uterine tube	UBERON:0001302	28.44	gold quality
blood	UBERON:0000178	28.42	gold quality
duodenum	UBERON:0002114	28.14	gold quality
placenta	UBERON:0001987	27.46	gold quality
primary visual cortex	UBERON:0002436	27.30	gold quality
prostate gland	UBERON:0002367	27.16	silver quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
adrenal tissue	UBERON:0018303	26.45	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
muscle of leg	UBERON:0001383	26.13	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 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	8.64
E-ANND-3	no	2.28

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• This publication uses ‘GPR137’ as a name for this gene. (PMID:12732197)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51d1	ENSMUSG00000073967
rattus_norvegicus	Or51d1	ENSRNOG00000048369

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), 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), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 51D1 — Q8NGF3 (reviewed: Q8NGF3)

Alternative names: Olfactory receptor OR11-14

All UniProt accessions (2): A0A126GVM2, Q8NGF3

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_001004751* (*=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 (18 total): topological domain 8, transmembrane region 7, chain 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGF3-F1	85.60	0.53

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): 110–202

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling 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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, ANDERSON_BLOOD_CN54GP140_ADJUVANTED_WITH_GLA_AF_AGE_18_45YO_6HR_DN, 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-2 pathways:

Category	Pathways
Sensory Perception	1
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

156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51D1	PDZD9	Q8IXQ8	533
OR51D1	TEX38	Q6PEX7	530
OR51D1	FAM222B	Q8WU58	526
OR51D1	ITIH2	P19823	499
OR51D1	PRG4	Q92954	459
OR51D1	LAMC2	Q13753	438
OR51D1	LYZL4	Q96KX0	432
OR51D1	OPN1MW2	P0DN77	430
OR51D1	FGF22	Q9HCT0	400
OR51D1	EMID1	Q96A84	380
OR51D1	SLC44A5	Q8NCS7	349
OR51D1	CEP152	O94986	340
OR51D1	NPY4R2	P0DQD5	325
OR51D1	HAPLN4	Q86UW8	323
OR51D1	GABRR1	P24046	305

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

282 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4639981:T:TA	acceptor_gain	0.8800
11:4639979:T:TA	acceptor_gain	0.7700
11:4639981:TGGAG:T	acceptor_gain	0.7600
11:4640062:T:G	acceptor_gain	0.7600
11:4639977:C:CA	acceptor_gain	0.7300
11:4639979:TGTGG:T	acceptor_gain	0.6900
11:4640062:T:TA	acceptor_gain	0.6800
11:4640061:A:AG	acceptor_gain	0.6300
11:4640061:AT:A	acceptor_gain	0.6300
11:4639949:G:A	acceptor_gain	0.6000
11:4639974:A:AG	acceptor_gain	0.6000
11:4640471:T:A	acceptor_gain	0.6000
11:4639948:T:TA	acceptor_gain	0.5700
11:4639983:G:C	acceptor_gain	0.5300
11:4640624:T:TA	donor_gain	0.5300
11:4640625:G:GA	donor_gain	0.5300
11:4640058:ACCAT:A	acceptor_gain	0.5100
11:4639981:TGG:T	acceptor_gain	0.5000
11:4640067:A:AC	acceptor_gain	0.5000
11:4640522:G:GT	donor_gain	0.5000
11:4640609:G:GA	donor_gain	0.5000
11:4640608:T:TA	donor_gain	0.4900
11:4640618:GC:G	donor_gain	0.4900
11:4640064:CCCA:C	acceptor_gain	0.4800
11:4640575:T:TA	acceptor_gain	0.4800
11:4640058:A:AG	acceptor_gain	0.4700
11:4640305:T:A	acceptor_gain	0.4700
11:4640758:GCAA:G	donor_gain	0.4700
11:4640068:A:AG	acceptor_gain	0.4600
11:4640069:G:GG	acceptor_gain	0.4600

AlphaMissense

2090 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4640361:T:C	F191L	0.984
11:4640363:C:A	F191L	0.984
11:4640363:C:G	F191L	0.984
11:4640133:T:C	F115L	0.953
11:4640135:C:A	F115L	0.953
11:4640135:C:G	F115L	0.953
11:4640364:T:A	C192S	0.930
11:4640365:G:C	C192S	0.930
11:4640362:T:G	F191C	0.915
11:4640370:C:G	H194D	0.913
11:4640580:T:C	F264L	0.912
11:4640582:C:A	F264L	0.912
11:4640582:C:G	F264L	0.912
11:4640364:T:C	C192R	0.911
11:4640362:T:C	F191S	0.908
11:4640366:T:G	C192W	0.906
11:4639860:T:C	F24L	0.886
11:4639862:C:A	F24L	0.886
11:4639862:C:G	F24L	0.886
11:4640120:C:G	C110W	0.886
11:4640118:T:A	C110S	0.878
11:4640119:G:C	C110S	0.878
11:4640129:G:C	Q113H	0.877
11:4640129:G:T	Q113H	0.877
11:4640377:A:T	D196V	0.877
11:4640376:G:C	D196H	0.876
11:4640414:T:A	N208K	0.876
11:4640414:T:G	N208K	0.876
11:4640350:T:A	V187D	0.875
11:4640365:G:A	C192Y	0.872

dbSNP variants (sampled 300 via entrez): RS1000152160 (11:4642659 C>G,T), RS1000204942 (11:4642472 C>G,T), RS1000370683 (11:4637830 G>T), RS1000379458 (11:4641106 A>G), RS1000833001 (11:4637511 G>A), RS1001259889 (11:4635862 A>T), RS1002306376 (11:4642390 T>G), RS1002480934 (11:4636807 C>A,T), RS1003398034 (11:4635784 T>G), RS1003455380 (11:4637789 G>A), RS1003483239 (11:4638056 G>C), RS1004272275 (11:4640806 G>A,T), RS1005269652 (11:4637734 C>T), RS1005323006 (11:4639363 C>T), RS1005683507 (11:4639681 A>C,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

4 associations (top):

Study	Trait	p-value
GCST007327_26	Smoking status (ever vs never smokers)	3.000000e-08
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior

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
arsenite	decreases methylation	1
Air Pollutants	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Endosulfan	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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