OR5I1

Summary

OR5I1 (olfactory receptor family 5 subfamily I member 1, HGNC:8347) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5I1 (Q13606). 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 10798 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_006637

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8347
Approved symbol	OR5I1
Name	olfactory receptor family 5 subfamily I member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	HSOlf1, OLF1
Ensembl gene	ENSG00000167825
Ensembl biotype	protein_coding
OMIM	608496
Entrez	10798

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000301532

RefSeq mRNA: 1 — MANE Select: NM_006637 NM_006637

CCDS: CCDS7949

Canonical transcript exons

ENST00000301532 — 1 exons

Exon	Start	End
ENSE00001117428	55935456	55936400

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 98.21.

Top tissues by expression

249 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	98.21	gold quality
metanephric glomerulus	UBERON:0004736	55.97	gold quality
tendon of biceps brachii	UBERON:0008188	54.59	gold quality
paraflocculus	UBERON:0005351	53.69	gold quality
Brodmann (1909) area 10	UBERON:0013541	51.24	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
endometrium epithelium	UBERON:0004811	46.85	gold quality
upper leg skin	UBERON:0004262	45.65	silver quality
quadriceps femoris	UBERON:0001377	44.99	gold quality
skin of hip	UBERON:0001554	44.28	silver quality
vastus lateralis	UBERON:0001379	43.95	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
thymus	UBERON:0002370	42.81	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
oviduct epithelium	UBERON:0004804	41.10	gold quality
subthalamic nucleus	UBERON:0001906	41.07	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5i1	ENSMUSG00000068816
rattus_norvegicus	Or5i1	ENSRNOG00000005793

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5I1 — Q13606 (reviewed: Q13606)

Alternative names: Olfactory receptor OR11-159, Olfactory receptor-like protein OLF1

All UniProt accessions (2): A0A126GVE5, Q13606

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_006628* (*=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 4, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13606-F1	89.19	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.

Disulfide bonds (1): 99–191

Glycosylation sites (1): 7

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 27 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, 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, CHIARETTI_ACUTE_LYMPHOBLASTIC_LEUKEMIA_ZAP70, GSE14000_TRANSLATED_RNA_VS_MRNA_4H_LPS_DC_DN, GSE15659_TREG_VS_TCONV_UP, WP_GPCRS_CLASS_A_RHODOPSINLIKE

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 (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

346 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5I1	ZNF616	Q08AN1	490
OR5I1	PTCRA	Q6ISU1	450
OR5I1	DPY19L1	Q2PZI1	448
OR5I1	SYNDIG1	Q9H7V2	447
OR5I1	CD72	P21854	429
OR5I1	RNF151	Q2KHN1	422
OR5I1	CDC20B	Q86Y33	420
OR5I1	CBLL2	Q8N7E2	419
OR5I1	SH3RF2	Q8TEC5	410
OR5I1	CAPRIN2	Q6IMN6	397
OR5I1	PDAP1	Q13442	393
OR5I1	TRPC4AP	Q8TEL6	378
OR5I1	TRIM48	Q8IWZ4	374
OR5I1	RNF169	Q8NCN4	370
OR5I1	ODF4	Q2M2E3	367

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NM76, P37067, P37069, P37070, P37071, P58181, Q13606, Q60884, Q60886, Q60895, Q8N127, Q8N162, Q8NGE1, Q8NGE2, Q8NGF7, Q8NGG4, Q8NGL1, Q8NGL3, Q8NGS4, Q8NGS5, Q8NGS9, Q8NGT0, Q8NH48, Q8NH51, Q8NH92, Q8NH93, Q8VEW5, Q8VEW6, Q8VF12, Q8VF66, Q8VFD0, Q8VFD1, Q8VFD3, Q8VFK2

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P58180, Q13606, Q15615, Q60878, Q60881, Q60888, Q60893, Q6IEV9, Q6IEY1, Q6IF82, Q6UXT6, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGA1, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD3, Q8NGD4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

236 predictions. Top by Δscore:

Variant	Effect	Δscore
11:55936244:T:TA	donor_gain	0.8300
11:55935722:C:CC	acceptor_gain	0.7500
11:55936364:CAGTG:C	donor_gain	0.7500
11:55936365:AGTGA:A	donor_gain	0.7500
11:55936365:A:AC	donor_gain	0.7200
11:55936029:G:C	donor_gain	0.7100
11:55936219:A:C	donor_gain	0.7000
11:55935719:AGACT:A	acceptor_loss	0.6600
11:55935721:ACTG:A	acceptor_loss	0.6600
11:55935722:CTG:C	acceptor_loss	0.6600
11:55935723:T:A	acceptor_loss	0.6600
11:55935719:AGA:A	acceptor_gain	0.6500
11:55935720:GA:G	acceptor_gain	0.6300
11:55935718:AAGA:A	acceptor_gain	0.5900
11:55935717:TAAGA:T	acceptor_gain	0.5800
11:55935783:G:C	donor_gain	0.5800
11:55935996:TGTG:T	donor_gain	0.5700
11:55936375:G:C	donor_gain	0.5600
11:55936373:A:AC	donor_gain	0.5500
11:55936374:C:CC	donor_gain	0.5500
11:55935733:A:AC	acceptor_gain	0.5400
11:55935692:T:TA	donor_gain	0.5200
11:55935733:A:C	acceptor_gain	0.5100
11:55935843:C:CT	acceptor_gain	0.5000
11:55935844:A:T	acceptor_gain	0.5000
11:55935545:C:CC	acceptor_gain	0.4900
11:55936104:A:T	donor_gain	0.4900
11:55935721:AC:A	acceptor_gain	0.4800
11:55936387:T:C	donor_gain	0.4800
11:55935723:T:G	acceptor_gain	0.4700

AlphaMissense

2054 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:55936359:A:C	F14L	0.955
11:55936359:A:T	F14L	0.955
11:55936361:A:G	F14L	0.955
11:55936360:A:G	F14S	0.892
11:55935864:A:C	F179L	0.885
11:55935864:A:T	F179L	0.885
11:55935866:A:G	F179L	0.885
11:55935861:G:C	F180L	0.861
11:55935861:G:T	F180L	0.861
11:55935863:A:G	F180L	0.861
11:55936030:C:G	R124P	0.851
11:55936344:A:C	F19L	0.841
11:55936344:A:T	F19L	0.841
11:55936346:A:G	F19L	0.841
11:55935859:C:G	C181S	0.829
11:55935860:A:T	C181S	0.829
11:55935930:A:C	S157R	0.828
11:55935930:A:T	S157R	0.828
11:55935932:T:G	S157R	0.828
11:55935903:A:C	F166L	0.825
11:55935903:A:T	F166L	0.825
11:55935905:A:G	F166L	0.825
11:55936360:A:C	F14C	0.822
11:55935522:A:C	S293R	0.815
11:55935522:A:T	S293R	0.815
11:55935524:T:G	S293R	0.815
11:55936345:A:G	F19S	0.802
11:55935860:A:G	C181R	0.793
11:55935841:A:G	L187P	0.791
11:55935516:T:A	R295S	0.790

dbSNP variants (sampled 300 via entrez): RS1000031776 (11:55937066 A>G), RS1002087040 (11:55935780 T>C), RS1002156235 (11:55938105 T>G), RS1003533758 (11:55935246 G>A), RS1005829474 (11:55937421 A>G,T), RS1006895848 (11:55936773 A>G,T), RS1006969488 (11:55937105 T>G), RS1009784739 (11:55935260 A>T), RS1010164021 (11:55935048 T>G), RS1010308035 (11:55937401 C>T), RS1010580826 (11:55938144 C>A), RS1013441280 (11:55936146 G>T), RS1013805362 (11:55937738 G>A), RS1013884641 (11:55936327 A>C), RS1014191115 (11:55936597 A>G)

Disease associations

OMIM: gene MIM:608496 | 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
Air Pollutants	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1

Clinical trials (associated diseases)

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