OR51V1

Summary

OR51V1 (olfactory receptor family 51 subfamily V member 1, HGNC:19597) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51V1 (Q9H2C8). 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 283111 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_001004760

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19597
Approved symbol	OR51V1
Name	olfactory receptor family 51 subfamily V member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176742
Ensembl biotype	protein_coding
Entrez	283111

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641270

RefSeq mRNA: 1 — MANE Select: NM_001004760 NM_001004760

CCDS: CCDS31375

Canonical transcript exons

ENST00000641270 — 1 exons

Exon	Start	End
ENSE00003811768	5199735	5200682

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 90.11.

Top tissues by expression

127 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	90.11	gold quality
granulocyte	CL:0000094	37.95	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
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	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
leukocyte	CL:0000738	28.40	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
right coronary artery	UBERON:0001625	27.85	gold quality
monocyte	CL:0000576	27.82	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	26.15	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
muscle of leg	UBERON:0001383	24.87	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	24.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51v14	ENSMUSG00000045132
mus_musculus	Or51v8	ENSMUSG00000045780
rattus_norvegicus	Or51v14	ENSRNOG00000015940
rattus_norvegicus	Or51v8	ENSRNOG00000084219
rattus_norvegicus	Or51v8b	ENSRNOG00000089188

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), OR51I1 (ENSG00000167359), OR51Q1 (ENSG00000167360), OR52A5 (ENSG00000171944), OR52W1 (ENSG00000175485), OR51B6 (ENSG00000176239), 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 51V1 — Q9H2C8 (reviewed: Q9H2C8)

Alternative names: Odorant receptor HOR3’beta1, Olfactory receptor 51A12, Olfactory receptor OR11-36

All UniProt accessions (1): A0A286YET0

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_001004760* (*=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 (22 total): topological domain 8, transmembrane region 7, sequence variant 2, sequence conflict 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2C8-F1	87.46	0.67

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): 106–188

Glycosylation sites (1): 18

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 20 (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, PEDRIOLI_MIR31_TARGETS_DN, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (6): sensory perception of smell (GO:0007608), cellular response to lipid (GO:0071396), system process (GO:0003008), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), 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
sensory perception of chemical stimulus	1
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 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

218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51V1	KRTAP19-8	Q3LI54	571
OR51V1	KRTAP12-3	P60328	525
OR51V1	A0A0J9YYA3	A0A0J9YYA3	510
OR51V1	FNDC11	Q9BVV2	505
OR51V1	RSPH14	Q9UHP6	486
OR51V1	HBG1	P02096	478
OR51V1	HBD	P02042	475
OR51V1	ANKRD16	Q6P6B7	473
OR51V1	TMEM235	A6NFC5	448
OR51V1	HBB	P02023	448
OR51V1	KRTAP5-7	Q6L8G8	445
OR51V1	HBE1	P02100	401
OR51V1	ARHGAP28	Q9P2N2	400
OR51V1	C1QTNF8	P60827	377
OR51V1	KRTAP5-11	Q6L8G4	371

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR51V1	ZMPSTE24	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (2): OR51V1 (Synthetic Lethality), ZMPSTE24 (Affinity Capture-MS)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

181 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5200139:A:T	acceptor_gain	0.6900
11:5200138:C:CT	acceptor_gain	0.6600
11:5200014:CAGGA:C	acceptor_gain	0.6500
11:5200669:A:AC	donor_gain	0.6300
11:5200670:C:CC	donor_gain	0.6300
11:5200528:A:AC	donor_gain	0.6200
11:5200158:G:C	acceptor_gain	0.6100
11:5199918:G:C	acceptor_gain	0.6000
11:5200020:G:C	acceptor_gain	0.5800
11:5200127:CCTGG:C	acceptor_gain	0.5800
11:5200131:G:GC	acceptor_gain	0.5800
11:5199916:A:C	acceptor_gain	0.5700
11:5200015:A:T	acceptor_gain	0.5600
11:5200613:C:CA	donor_gain	0.5400
11:5200134:C:CT	acceptor_gain	0.5300
11:5200006:T:C	acceptor_gain	0.5200
11:5200001:CTGA:C	acceptor_gain	0.5100
11:5200135:A:T	acceptor_gain	0.5100
11:5200220:TCCTA:T	donor_loss	0.5100
11:5200221:CCTAC:C	donor_loss	0.5100
11:5200222:CTAC:C	donor_loss	0.5100
11:5200223:TACCT:T	donor_loss	0.5100
11:5200224:A:C	donor_loss	0.5100
11:5200225:CCTAT:C	donor_loss	0.5100
11:5199815:T:TC	acceptor_gain	0.5000
11:5200018:A:C	acceptor_gain	0.5000
11:5200224:A:AC	donor_gain	0.4900
11:5200225:C:CC	donor_gain	0.4900
11:5199918:G:GC	acceptor_gain	0.4800
11:5200146:G:GC	acceptor_gain	0.4800

AlphaMissense

2079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5200140:G:C	F187L	0.977
11:5200140:G:T	F187L	0.977
11:5200142:A:G	F187L	0.977
11:5200638:A:C	F21L	0.909
11:5200638:A:T	F21L	0.909
11:5200640:A:G	F21L	0.909
11:5200494:A:C	F69L	0.907
11:5200494:A:T	F69L	0.907
11:5200496:A:G	F69L	0.907
11:5199882:A:C	F273L	0.902
11:5199882:A:T	F273L	0.902
11:5199884:A:G	F273L	0.902
11:5200218:A:C	S161R	0.895
11:5200218:A:T	S161R	0.895
11:5200220:T:G	S161R	0.895
11:5200370:A:C	Y111D	0.895
11:5199921:G:C	F260L	0.890
11:5199921:G:T	F260L	0.890
11:5199923:A:G	F260L	0.890
11:5200123:A:G	L193P	0.890
11:5200623:A:C	F26L	0.883
11:5200623:A:T	F26L	0.883
11:5200625:A:G	F26L	0.883
11:5199903:G:C	S266R	0.874
11:5199903:G:T	S266R	0.874
11:5199905:T:G	S266R	0.874
11:5200383:G:C	C106W	0.873
11:5200374:C:A	Q109H	0.859
11:5200374:C:G	Q109H	0.859
11:5200138:C:G	C188S	0.854

dbSNP variants (sampled 300 via entrez): RS1000082402 (11:5199522 G>C), RS1000114977 (11:5199679 T>C), RS1002355207 (11:5200695 A>G), RS1002641357 (11:5202334 TTTC>T), RS1003845760 (11:5201931 C>T), RS1004717325 (11:5201215 C>G), RS1004900127 (11:5201560 C>G,T), RS1007454796 (11:5200023 G>A,C), RS1008544951 (11:5200779 AACTT>A), RS1009328628 (11:5200737 A>G), RS1010743366 (11:5199732 C>T), RS1010775387 (11:5202141 C>T), RS1010806378 (11:5202394 A>C), RS1012070484 (11:5199298 A>G), RS1012989828 (11:5202656 C>A,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

5 associations (top):

Study	Trait	p-value
GCST007005_5	Logical memory (immediate recall) in normal cognition	3.000000e-06
GCST007006_9	Logical memory (delayed recall) in normal cognition	1.000000e-07
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:0004874	memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation	2
CGP 52608	increases reaction, affects binding	1
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1

Clinical trials (associated diseases)

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