OR1I1

Summary

OR1I1 (olfactory receptor family 1 subfamily I member 1, HGNC:8207) is a protein-coding gene on chromosome 19p13.1, encoding Olfactory receptor 1I1 (O60431). 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 126370 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_001004713

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8207
Approved symbol	OR1I1
Name	olfactory receptor family 1 subfamily I member 1
Location	19p13.1
Locus type	gene with protein product
Status	Approved
Aliases	OR1I1P, OR19-20, OR1I1Q
Ensembl gene	ENSG00000094661
Ensembl biotype	protein_coding
Entrez	126370

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000209540, ENST00000641398

RefSeq mRNA: 1 — MANE Select: NM_001004713 NM_001004713

CCDS: CCDS32937

Canonical transcript exons

ENST00000641398 — 2 exons

Exon	Start	End
ENSE00003811680	15087053	15092970
ENSE00003812422	15082211	15082276

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 88.03.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibialis anterior	UBERON:0001385	88.03	silver quality
pancreatic ductal cell	CL:0002079	87.07	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.12	gold quality
ileal mucosa	UBERON:0000331	79.59	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.27	gold quality
deltoid	UBERON:0001476	69.96	silver quality
epithelial cell of pancreas	CL:0000083	68.82	gold quality
cardiac muscle of right atrium	UBERON:0003379	67.58	gold quality
left ventricle myocardium	UBERON:0006566	67.25	gold quality
myocardium	UBERON:0002349	66.01	gold quality
skin of hip	UBERON:0001554	64.91	gold quality
upper leg skin	UBERON:0004262	64.71	gold quality
secondary oocyte	CL:0000655	61.82	gold quality
layer of synovial tissue	UBERON:0007616	60.27	gold quality
cartilage tissue	UBERON:0002418	57.98	gold quality
inferior vagus X ganglion	UBERON:0005363	56.68	gold quality
saphenous vein	UBERON:0007318	56.57	gold quality
body of tongue	UBERON:0011876	56.52	gold quality
synovial joint	UBERON:0002217	56.04	gold quality
pharyngeal mucosa	UBERON:0000355	55.75	gold quality
substantia nigra pars reticulata	UBERON:0001966	55.67	gold quality
cerebellar vermis	UBERON:0004720	55.66	gold quality
dorsal plus ventral thalamus	UBERON:0001897	55.57	gold quality
nasal cavity epithelium	UBERON:0005384	55.52	gold quality
subthalamic nucleus	UBERON:0001906	55.44	gold quality
pericardium	UBERON:0002407	55.38	gold quality
pons	UBERON:0000988	55.33	gold quality
ventral tegmental area	UBERON:0002691	55.31	gold quality
nipple	UBERON:0002030	55.30	gold quality
substantia nigra pars compacta	UBERON:0001965	55.29	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	184.88
E-ANND-3	yes	4.39
E-ENAD-20	no	13.86
E-GEOD-124858	no	12.73
E-MTAB-6142	no	2.26

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1i2	ENSMUSG00000071185
rattus_norvegicus	Or1i2	ENSRNOG00000007348

Paralogs (130): OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1I1 — O60431 (reviewed: O60431)

Alternative names: Olfactory receptor 19-20

All UniProt accessions (1): O60431

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_001004713* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 7, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60431-F1	83.53	0.51

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 21 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, chr19p13, 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, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (4): 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 (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

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
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

292 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1I1	KRTAP12-3	P60328	583
OR1I1	TMEM235	A6NFC5	518
OR1I1	C1QTNF8	P60827	437
OR1I1	MAGEB6	Q8N7X4	431
OR1I1	SPATA31D3	P0C874	394
OR1I1	ZSWIM4	Q9H7M6	392
OR1I1	LHFPL6	Q9Y693	348
OR1I1	SPATA31D4	Q6ZUB0	348
OR1I1	ASIC4	Q96FT7	309
OR1I1	FMO1	Q01740	288
OR1I1	SSTR4	P31391	259
OR1I1	GSTM4	Q03013	250
OR1I1	GPR137C	Q8N3F9	249
OR1I1	GRIN3B	O60391	248
OR1I1	ENAM	Q9NRM1	248

IntAct

0 interactions, top by confidence:

BioGRID (1): OR1I1 (Positive Genetic)

ESM2 similar proteins: A6ND48, A6NFC9, B2RN74, O43869, O60412, O60431, P23265, P31388, P34987, P47883, P47884, P47887, P58170, Q0VAX9, Q5JRS4, Q60894, Q6IFN5, Q7Z3T1, Q8NG78, Q8NG84, Q8NG94, Q8NG99, Q8NGC0, Q8NGC1, Q8NGC5, Q8NGE7, Q8NGG2, Q8NGG3, Q8NGN1, Q8NGN2, Q8NGR1, Q8NGR2, Q8NGR6, Q8NGT2, Q8NGW1, Q8NGW6, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07

Diamond homologs: A0A3B3IT45, A6NGY5, A6NMU1, A6NND4, O43749, O60431, O88628, P0C626, P0C646, P0C7T3, P0DN81, P23266, P23272, P23273, P23274, P30953, P30955, P58181, P70526, Q13607, Q6IF63, Q6IFG1, Q6W049, Q8NG95, Q8NG99, Q8NGA0, Q8NGA1, Q8NGC4, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3

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	51
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

337 predictions. Top by Δscore:

Variant	Effect	Δscore
19:15087876:G:GT	donor_gain	0.7500
19:15087835:C:G	donor_gain	0.7200
19:15087882:G:GT	donor_gain	0.6800
19:15087883:C:T	donor_gain	0.6500
19:15087936:A:AG	acceptor_gain	0.6200
19:15087937:G:GG	acceptor_gain	0.6200
19:15087771:A:T	donor_gain	0.5900
19:15087805:T:TA	donor_gain	0.5900
19:15087806:G:GA	donor_gain	0.5800
19:15087951:GATA:G	donor_gain	0.5800
19:15087808:TGTC:T	donor_gain	0.5600
19:15087956:G:GT	donor_gain	0.5600
19:15087872:G:GT	donor_gain	0.5500
19:15087768:TGGA:T	donor_gain	0.5400
19:15087842:C:CG	donor_gain	0.5400
19:15087902:G:GT	donor_gain	0.5400
19:15087896:GT:G	donor_gain	0.5300
19:15087735:A:T	donor_gain	0.5200
19:15087895:T:G	donor_gain	0.5200
19:15087902:G:T	donor_gain	0.5200
19:15087843:T:G	donor_gain	0.5100
19:15087906:T:TG	donor_gain	0.5100
19:15087952:A:G	donor_gain	0.5100
19:15087971:G:GT	donor_gain	0.5100
19:15087414:G:GG	donor_gain	0.4800
19:15087937:GC:G	acceptor_gain	0.4800
19:15088011:GAACA:G	donor_gain	0.4800
19:15088040:A:AG	acceptor_gain	0.4800
19:15088041:G:GG	acceptor_gain	0.4800
19:15087413:A:AG	donor_gain	0.4700

AlphaMissense

2322 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:15087567:T:C	F168L	0.787
19:15087569:C:A	F168L	0.787
19:15087569:C:G	F168L	0.787
19:15087099:T:C	F12L	0.744
19:15087101:C:A	F12L	0.744
19:15087101:C:G	F12L	0.744
19:15087594:T:C	F177L	0.698
19:15087596:C:A	F177L	0.698
19:15087596:C:G	F177L	0.698
19:15087147:T:C	F28L	0.695
19:15087149:C:A	F28L	0.695
19:15087149:C:G	F28L	0.695
19:15087375:T:C	F104L	0.671
19:15087377:C:A	F104L	0.671
19:15087377:C:G	F104L	0.671
19:15087432:T:C	F123L	0.668
19:15087434:C:A	F123L	0.668
19:15087434:C:G	F123L	0.668
19:15087597:T:C	F178L	0.667
19:15087599:C:A	F178L	0.667
19:15087599:C:G	F178L	0.667
19:15087156:T:C	F31L	0.626
19:15087158:C:A	F31L	0.626
19:15087158:C:G	F31L	0.626
19:15087402:T:C	F113L	0.588
19:15087404:T:A	F113L	0.588
19:15087404:T:G	F113L	0.588
19:15087690:A:C	S209R	0.577
19:15087692:C:A	S209R	0.577
19:15087692:C:G	S209R	0.577

dbSNP variants (sampled 300 via entrez): RS1000053859 (19:15082038 C>T), RS1000224241 (19:15090898 G>A,T), RS1000296436 (19:15090658 T>C), RS1000871125 (19:15081739 G>A), RS1000942813 (19:15081504 C>T), RS1001222113 (19:15084380 A>T), RS1001501520 (19:15083832 A>G), RS1001503964 (19:15086861 G>A,C,T), RS1001709513 (19:15091430 T>C,G), RS1002064500 (19:15092448 C>G), RS1002147189 (19:15089195 C>A,T), RS1002436661 (19:15092672 G>A), RS1002494590 (19:15081803 TATTG>T,TATTGATTG), RS1002604072 (19:15092364 G>C), RS1002756464 (19:15083061 C>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

0 associations (top):

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
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Doxorubicin	affects response to substance	1
Plant Extracts	affects cotreatment, decreases expression	1
Vinblastine	affects response to substance	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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