OR51F1

Summary

OR51F1 (olfactory receptor family 51 subfamily F member 1, HGNC:15196) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51F1 (A6NGY5). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 256892 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001004752

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15196
Approved symbol	OR51F1
Name	olfactory receptor family 51 subfamily F member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000280021
Ensembl biotype	protein_coding
Entrez	256892

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000624103

RefSeq mRNA: 1 — MANE Select: NM_001004752 NM_001004752

CCDS: CCDS31359

Canonical transcript exons

ENST00000624103 — 1 exons

Exon	Start	End
ENSE00003755573	4768979	4769938

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	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
monocyte	CL:0000576	28.71	silver quality
leukocyte	CL:0000738	28.61	silver quality
liver	UBERON:0002107	28.34	gold quality
duodenum	UBERON:0002114	28.14	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	26.02	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
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.88	gold quality
kidney	UBERON:0002113	24.69	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.30	gold quality
cortex of kidney	UBERON:0001225	24.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51f1	ENSMUSG00000060888
mus_musculus	Or51f1d	ENSMUSG00000073960
mus_musculus	Or51f1e	ENSMUSG00000078080
rattus_norvegicus	Or51f1	ENSRNOG00000078816
rattus_norvegicus		ENSRNOG00000083119
rattus_norvegicus	Or51f1g	ENSRNOG00000084179

Paralogs (33): TACR2 (ENSG00000075073), PROKR2 (ENSG00000101292), GPR50 (ENSG00000102195), TACR1 (ENSG00000115353), GPR75 (ENSG00000119737), PRLHR (ENSG00000119973), GPR83 (ENSG00000123901), MCHR1 (ENSG00000128285), OR11H1 (ENSG00000130538), 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)

Protein

Protein identifiers

Olfactory receptor 51F1 — A6NGY5 (reviewed: A6NGY5)

All UniProt accessions (2): A6NGY5, A6NLW9

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A single nucleotide deletion at position Arg-92 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The deletion is more frequent in African-Americans than in non-Africans.

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

RefSeq proteins (1): NP_001004752* (*=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, sequence variant 8, transmembrane region 7, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NGY5-F1	86.52	0.50

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

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 18 (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, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51F1	KIAA0232	Q92628	547
OR51F1	HDDC2	Q7Z4H3	447
OR51F1	IMPG1	Q17R60	412
OR51F1	H0YL38	H0YL38	396
OR51F1	ZNF280D	Q6N043	392
OR51F1	CRYBG2	Q8N1P7	392
OR51F1	PCED1B	Q96HM7	392
OR51F1	LMBR1L	Q6UX01	373
OR51F1	KIAA1755	Q5JYT7	373
OR51F1	TMEM200A	Q86VY9	358
OR51F1	KRTDAP	P60985	355
OR51F1	NIBAN2	Q96TA1	321
OR51F1	RCAN3	Q9UKA8	321
OR51F1	CDYL2	Q8N8U2	320
OR51F1	VWA5A	O00534	311

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

96 predictions. Top by Δscore:

Variant	Effect	Δscore
11:4769514:GTGTA:G	donor_loss	0.8000
11:4769515:TGTAC:T	donor_loss	0.8000
11:4769516:GTAC:G	donor_loss	0.8000
11:4769517:TA:T	donor_loss	0.8000
11:4769232:C:CC	acceptor_gain	0.7800
11:4769520:C:G	donor_loss	0.7700
11:4769736:A:C	donor_gain	0.7600
11:4769731:A:AC	donor_gain	0.7200
11:4769230:TT:T	acceptor_gain	0.7000
11:4769239:CAGAG:C	acceptor_gain	0.7000
11:4769453:TATAG:T	donor_gain	0.7000
11:4769227:CAATT:C	acceptor_gain	0.6900
11:4769546:A:C	donor_gain	0.6700
11:4769243:G:GC	acceptor_gain	0.6500
11:4769521:T:TA	donor_gain	0.5900
11:4769513:AGTGT:A	donor_loss	0.5800
11:4769230:TTC:T	acceptor_loss	0.5600
11:4769231:TCT:T	acceptor_loss	0.5600
11:4769229:ATTCT:A	acceptor_gain	0.5500
11:4769233:T:C	acceptor_loss	0.5500
11:4769519:CCT:C	donor_gain	0.5500
11:4769228:AATT:A	acceptor_gain	0.5300
11:4769243:G:C	acceptor_gain	0.5300
11:4769229:ATT:A	acceptor_gain	0.5200
11:4769646:G:A	donor_gain	0.5100
11:4769840:A:C	donor_gain	0.4900
11:4769521:T:C	donor_loss	0.4800
11:4769667:A:AC	donor_gain	0.4800
11:4769230:TTCTG:T	acceptor_gain	0.4600
11:4769240:A:T	acceptor_gain	0.4500

AlphaMissense

2020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:4769876:G:C	F21L	0.730
11:4769876:G:T	F21L	0.730
11:4769878:A:G	F21L	0.730
11:4769408:G:C	F177L	0.714
11:4769408:G:T	F177L	0.714
11:4769410:A:G	F177L	0.714
11:4769651:A:C	F96L	0.619
11:4769651:A:T	F96L	0.619
11:4769653:A:G	F96L	0.619
11:4769819:G:C	F40L	0.590
11:4769819:G:T	F40L	0.590
11:4769821:A:G	F40L	0.590
11:4769591:G:C	F116L	0.578
11:4769591:G:T	F116L	0.578
11:4769593:A:G	F116L	0.578
11:4769552:A:C	F129L	0.568
11:4769552:A:T	F129L	0.568
11:4769554:A:G	F129L	0.568

dbSNP variants (sampled 300 via entrez): RS1000518900 (11:4771570 A>G), RS1000874736 (11:4770662 G>A), RS1001693714 (11:4768998 C>A), RS1003441418 (11:4769162 G>A,C), RS1003640688 (11:4770068 T>G), RS1004823767 (11:4770029 T>C), RS1007510232 (11:4771831 A>G), RS1008291199 (11:4771063 G>A), RS1009608962 (11:4770260 A>G), RS1010845900 (11:4770133 G>A), RS1010893629 (11:4770309 C>T), RS1011230614 (11:4769186 G>C,T), RS1011848541 (11:4771099 A>G), RS1012109349 (11:4768853 A>G), RS1012141976 (11:4768557 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

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1

Clinical trials (associated diseases)

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