OR1E1

Summary

OR1E1 (olfactory receptor family 1 subfamily E member 1, HGNC:8189) is a protein-coding gene on chromosome 17p13.3, encoding Olfactory receptor 1E1 (P30953). 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 8387 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 40 total
• MANE Select transcript: NM_003553

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8189
Approved symbol	OR1E1
Name	olfactory receptor family 1 subfamily E member 1
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	OR17-2, HGM071, OR17-32, OR13-66
Ensembl gene	ENSG00000180016
Ensembl biotype	protein_coding
Entrez	8387

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000322608

RefSeq mRNA: 1 — MANE Select: NM_003553 NM_003553

CCDS: CCDS11024

Canonical transcript exons

ENST00000322608 — 1 exons

Exon	Start	End
ENSE00001243905	3397104	3398410

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 65.01.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	65.01	silver quality
diaphragm	UBERON:0001103	64.39	gold quality
secondary oocyte	CL:0000655	60.29	gold quality
decidua	UBERON:0002450	56.55	gold quality
lower lobe of lung	UBERON:0008949	56.00	silver quality
hair follicle	UBERON:0002073	52.82	gold quality
cranial nerve II	UBERON:0000941	52.55	silver quality
endometrium epithelium	UBERON:0004811	52.37	gold quality
epithelial cell of pancreas	CL:0000083	52.06	gold quality
mucosa of urinary bladder	UBERON:0001259	51.79	gold quality
left ventricle myocardium	UBERON:0006566	51.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	50.67	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
CA1 field of hippocampus	UBERON:0003881	49.94	gold quality
quadriceps femoris	UBERON:0001377	49.77	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
vastus lateralis	UBERON:0001379	49.23	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
myocardium	UBERON:0002349	49.17	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
nasal cavity epithelium	UBERON:0005384	48.43	gold quality
deltoid	UBERON:0001476	48.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (130): OR1I1 (ENSG00000094661), 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)

Protein

Protein identifiers

Olfactory receptor 1E1 — P30953 (reviewed: P30953)

Alternative names: Olfactory receptor 13-66, Olfactory receptor 17-2/17-32, Olfactory receptor 1E5, Olfactory receptor 1E6, Olfactory receptor 5-85, Olfactory receptor OR17-18, Olfactory receptor-like protein HGMP07I

All UniProt accessions (1): P30953

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_003544* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 3, sequence conflict 2, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P30953-F1	88.72	0.63

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 5

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: 32 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, BROWNE_HCMV_INFECTION_48HR_DN, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, KAYO_AGING_MUSCLE_UP, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_UP, 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, PEPPER_CHRONIC_LYMPHOCYTIC_LEUKEMIA_UP, GSE1432_CTRL_VS_IFNG_1H_MICROGLIA_DN

GO Biological Process (5): signal transduction (GO:0007165), sensory perception of smell (GO:0007608), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of chemical stimulus (GO:0007606), 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
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
sensory perception of chemical stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception	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

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1E1	SPINK14	Q6IE38	648
OR1E1	SPATA18	Q8TC71	600
OR1E1	UNC45B	Q8IWX7	596
OR1E1	SPINK9	Q5DT21	589
OR1E1	TAS2R50	P59544	580
OR1E1	KRTAP10-9	P60411	573
OR1E1	FXYD4	P59646	545
OR1E1	TAS2R13	Q9NYV9	541
OR1E1	SPINK7	P58062	531
OR1E1	KRTAP10-3	P60369	525
OR1E1	SPINK13	Q1W4C9	520
OR1E1	KRTAP10-4	P60372	517
OR1E1	KRTAP10-11	P60412	507
OR1E1	TAS2R5	Q9NYW4	506
OR1E1	PILRA	Q9UKJ1	495

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR1E1	EMC4	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): EMC4 (Affinity Capture-MS), MUCL1 (Affinity Capture-MS), CCNYL1 (Affinity Capture-MS)

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

Diamond homologs: A3KFT3, A4D2G3, O43749, O60412, O76000, O76001, O76002, O95006, O95047, O95371, O95918, P0C626, P23266, P23269, P23272, P23273, P23274, P23275, P30953, P30955, P34982, P34984, P34986, P58173, P58181, P59922, P70526, Q13606, Q13607, Q15617, Q15619, Q5TZ20, Q60879, Q60890, Q6IEU7, Q6IF42, Q6UXT6, Q8N628, Q8NGA1, Q8NGC9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

319 predictions. Top by Δscore:

Variant	Effect	Δscore
17:3398237:AGG:A	donor_gain	0.7400
17:3397815:A:AC	donor_gain	0.7000
17:3398238:G:C	donor_gain	0.6800
17:3398237:A:AC	donor_gain	0.6400
17:3397535:CAGG:C	acceptor_gain	0.6300
17:3397531:T:TA	donor_gain	0.5500
17:3397571:C:CT	acceptor_gain	0.5300
17:3397687:C:CT	acceptor_gain	0.5100
17:3397765:C:T	acceptor_gain	0.5100
17:3398310:A:C	donor_gain	0.5100
17:3397714:CCT:C	acceptor_gain	0.5000
17:3398045:G:C	donor_gain	0.5000
17:3397539:C:CC	acceptor_gain	0.4800
17:3398329:A:AC	donor_gain	0.4600
17:3397430:A:AC	donor_gain	0.4400
17:3397431:C:CC	donor_gain	0.4400
17:3397629:C:CT	acceptor_gain	0.4400
17:3397716:T:TG	acceptor_gain	0.4400
17:3397519:T:TA	donor_gain	0.4300
17:3397712:AC:A	donor_gain	0.4300
17:3397830:A:C	donor_gain	0.4300
17:3397449:AGCT:A	donor_gain	0.4200
17:3397450:G:C	donor_gain	0.4200
17:3397452:T:TA	donor_gain	0.4200
17:3397516:C:A	donor_gain	0.4200
17:3397651:TTCCA:T	acceptor_gain	0.4100
17:3397652:TCCAT:T	acceptor_gain	0.4100
17:3397975:C:CT	donor_gain	0.4100
17:3397336:C:CC	acceptor_gain	0.4000
17:3397534:TCAG:T	acceptor_gain	0.4000

AlphaMissense

2061 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:3398197:A:G	C72R	0.948
17:3397538:G:C	S291R	0.929
17:3397538:G:T	S291R	0.929
17:3397540:T:G	S291R	0.929
17:3398057:C:A	M118I	0.923
17:3398057:C:G	M118I	0.923
17:3398057:C:T	M118I	0.923
17:3397658:G:C	F251L	0.922
17:3397658:G:T	F251L	0.922
17:3397660:A:G	F251L	0.922
17:3398046:C:G	R122P	0.920
17:3398075:G:C	S112R	0.903
17:3398075:G:T	S112R	0.903
17:3398077:T:G	S112R	0.903
17:3397966:A:G	W149R	0.896
17:3397966:A:T	W149R	0.896
17:3398375:G:C	F12L	0.895
17:3398375:G:T	F12L	0.895
17:3398377:A:G	F12L	0.895
17:3397907:A:C	F168L	0.883
17:3397907:A:T	F168L	0.883
17:3397909:A:G	F168L	0.883
17:3398049:T:G	D121A	0.881
17:3398214:A:G	L66S	0.878
17:3398048:G:C	D121E	0.876
17:3398048:G:T	D121E	0.876
17:3398285:G:C	N42K	0.873
17:3398285:G:T	N42K	0.873
17:3398211:G:A	S67F	0.870
17:3398211:G:T	S67Y	0.866

dbSNP variants (sampled 300 via entrez): RS1000216059 (17:3399142 T>C,G), RS1000714874 (17:3399467 C>A), RS1001166215 (17:3397729 C>A,G,T), RS1004558881 (17:3400084 C>T), RS1006363112 (17:3397029 G>A), RS1006456236 (17:3397268 A>C), RS1009324094 (17:3398677 T>A), RS1009751423 (17:3397167 T>A,C), RS1011914385 (17:3399582 T>C), RS1013199631 (17:3399161 G>A), RS1015141656 (17:3399755 C>T), RS1015348255 (17:3399172 A>G), RS1016203131 (17:3399414 T>G), RS1016306818 (17:3398070 A>C,G,T), RS1017698663 (17:3397042 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

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

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

Clinical trials (associated diseases)

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