OR51I1

Summary

OR51I1 (olfactory receptor family 51 subfamily I member 1, HGNC:15200) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 51I1 (Q9H343). 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 390063 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001005288

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15200
Approved symbol	OR51I1
Name	olfactory receptor family 51 subfamily I member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000167359
Ensembl biotype	protein_coding
Entrez	390063

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380211

RefSeq mRNA: 1 — MANE Select: NM_001005288 NM_001005288

CCDS: CCDS31382

Canonical transcript exons

ENST00000380211 — 1 exons

Exon	Start	End
ENSE00001484111	5440570	5441514

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 61.59.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	61.59	gold quality
nasal cavity epithelium	UBERON:0005384	53.15	gold quality
oocyte	CL:0000023	52.20	gold quality
trabecular bone tissue	UBERON:0002483	50.78	gold quality
upper leg skin	UBERON:0004262	48.18	silver quality
colonic epithelium	UBERON:0000397	46.07	gold quality
cardia of stomach	UBERON:0001162	46.05	gold quality
skin of hip	UBERON:0001554	45.20	silver quality
synovial joint	UBERON:0002217	44.10	gold quality
nipple	UBERON:0002030	43.75	gold quality
pylorus	UBERON:0001166	43.26	gold quality
dorsal root ganglion	UBERON:0000044	43.17	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
jejunum	UBERON:0002115	42.32	gold quality
buccal mucosa cell	CL:0002336	42.29	gold quality
mammalian vulva	UBERON:0000997	42.24	gold quality
superior vestibular nucleus	UBERON:0007227	42.01	gold quality
epithelium of nasopharynx	UBERON:0001951	41.93	gold quality
vastus lateralis	UBERON:0001379	41.88	gold quality
quadriceps femoris	UBERON:0001377	41.82	gold quality
inferior vagus X ganglion	UBERON:0005363	41.51	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
bone marrow cell	CL:0002092	41.03	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
right uterine tube	UBERON:0001302	40.92	silver quality
mammary duct	UBERON:0001765	40.92	gold quality
subthalamic nucleus	UBERON:0001906	40.92	gold quality
dorsal plus ventral thalamus	UBERON:0001897	40.86	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.63

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or51i1	ENSMUSG00000066262
rattus_norvegicus	Or51i1	ENSRNOG00000016954

Paralogs (51): OR51E2 (ENSG00000167332), OR51B5 (ENSG00000167355), 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), OR51D1 (ENSG00000197428), OR51C1 (ENSG00000197674), OR52M1 (ENSG00000197790), OR52E6 (ENSG00000205409), OR52J3 (ENSG00000205495)

Protein

Protein identifiers

Olfactory receptor 51I1 — Q9H343 (reviewed: Q9H343)

Alternative names: Odorant receptor HOR5’beta11, Olfactory receptor OR11-39

All UniProt accessions (2): A0A126GWE7, Q9H343

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_001005288* (*=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 (20 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H343-F1	88.80	0.69

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

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 23 (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, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, 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

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

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR51I1	KRTAP12-3	P60328	583
OR51I1	TMEM235	A6NFC5	518
OR51I1	C1QTNF8	P60827	437
OR51I1	TMEM200A	Q86VY9	397
OR51I1	SPATA31D3	P0C874	394
OR51I1	N4BP2	Q86UW6	371
OR51I1	CWH43	Q9H720	370
OR51I1	UBXN11	Q5T124	370
OR51I1	DUS2	Q9NX74	370
OR51I1	KLHDC2	Q9Y2U9	357
OR51I1	PREPL	Q4J6C6	352
OR51I1	CFAP251	Q8TBY9	350
OR51I1	LHFPL6	Q9Y693	348
OR51I1	SPATA31D4	Q6ZUB0	348
OR51I1	GNAL	P38405	331

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: A0A2L0VBG2, E7EM37, E9QJ73, O18821, O18935, O19012, O19014, O19025, O19032, O42329, O62169, O75388, O77700, O77713, O77715, O77721, O77830, O88634, P16395, P30968, P30969, P32236, P32237, P32251, P49651, P49922, P97288, Q01776, Q15722, Q19PY9, Q29003, Q2V2K5, Q6UNA4, Q6XKD3, Q8CH60, Q8JG69, Q8JG70, Q8MJ88, Q8NGA4, Q8SPZ1

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

211 predictions. Top by Δscore:

Variant	Effect	Δscore
11:5441023:C:CT	acceptor_gain	0.9100
11:5440849:CAA:C	acceptor_gain	0.7100
11:5440887:C:CT	acceptor_gain	0.7000
11:5440855:G:C	acceptor_gain	0.6800
11:5440729:C:CT	acceptor_gain	0.5800
11:5441390:A:AC	donor_gain	0.5800
11:5441391:C:CC	donor_gain	0.5800
11:5440851:A:C	acceptor_gain	0.5600
11:5440854:C:CT	acceptor_gain	0.5600
11:5441023:C:T	acceptor_gain	0.5600
11:5440851:A:AC	acceptor_gain	0.5500
11:5440901:A:AC	donor_gain	0.5500
11:5440814:T:A	donor_gain	0.5400
11:5441025:C:CT	acceptor_gain	0.5400
11:5440850:A:T	acceptor_gain	0.5200
11:5440855:G:GC	acceptor_gain	0.5100
11:5440882:CA:C	acceptor_gain	0.5000
11:5441294:C:CA	donor_gain	0.5000
11:5440652:A:C	acceptor_gain	0.4900
11:5440713:T:A	donor_gain	0.4800
11:5440843:C:CT	acceptor_gain	0.4800
11:5440722:G:T	acceptor_gain	0.4700
11:5440616:T:TA	donor_gain	0.4500
11:5440572:AGG:A	donor_gain	0.4400
11:5440631:C:CC	acceptor_gain	0.4400
11:5440665:A:AC	donor_gain	0.4300
11:5440666:C:CC	donor_gain	0.4300
11:5440715:C:CT	acceptor_gain	0.4300
11:5440883:A:C	acceptor_gain	0.4300
11:5440799:G:A	donor_gain	0.4200

AlphaMissense

2079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:5441203:G:C	F104L	0.936
11:5441203:G:T	F104L	0.936
11:5441205:A:G	F104L	0.936
11:5440756:A:C	F253L	0.927
11:5440756:A:T	F253L	0.927
11:5440758:A:G	F253L	0.927
11:5441005:G:C	F170L	0.915
11:5441005:G:T	F170L	0.915
11:5441007:A:G	F170L	0.915
11:5440973:C:G	C181S	0.890
11:5440974:A:T	C181S	0.890
11:5441053:A:C	S154R	0.885
11:5441053:A:T	S154R	0.885
11:5441055:T:G	S154R	0.885
11:5441209:C:A	Q102H	0.885
11:5441209:C:G	Q102H	0.885
11:5441152:G:C	S121R	0.882
11:5441152:G:T	S121R	0.882
11:5441154:T:G	S121R	0.882
11:5440988:A:G	L176S	0.877
11:5440958:A:G	L186P	0.875
11:5440972:A:C	C181W	0.871
11:5441295:C:G	G74R	0.870
11:5441295:C:T	G74R	0.870
11:5440968:G:C	H183D	0.868
11:5441218:G:C	C99W	0.868
11:5441188:G:C	F109L	0.867
11:5441188:G:T	F109L	0.867
11:5441190:A:G	F109L	0.867
11:5440924:G:C	N197K	0.864

dbSNP variants (sampled 300 via entrez): RS1000134876 (11:5440654 G>A), RS1001598305 (11:5440922 T>C), RS1002573416 (11:5442468 C>G), RS1002604449 (11:5442103 C>A), RS1003597074 (11:5443360 C>T), RS1003725112 (11:5442803 A>G), RS1004506946 (11:5442706 C>T), RS1006064563 (11:5442513 G>A), RS1006406514 (11:5442666 T>C), RS1007446832 (11:5443291 C>G,T), RS1008255606 (11:5441997 C>G), RS1010648943 (11:5442821 CTT>C), RS1011698475 (11:5441757 G>T), RS1013498388 (11:5441342 T>C), RS1013548927 (11:5441560 G>A,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

4 associations (top):

Study	Trait	p-value
GCST001862_2	Sickle cell anemia (haemolysis)	3.000000e-10
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

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

Chemical	Actions (top 5)	PubMed papers
theaflavin-3,3’-digallate	affects expression	1
Benzo(a)pyrene	affects methylation	1
Hydrogen Peroxide	decreases expression	1
Oxygen	increases expression	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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