OR1B1

Summary

OR1B1 (olfactory receptor family 1 subfamily B member 1, HGNC:8181) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1B1 (Q8NGR6). 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 347169 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001004450

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8181
Approved symbol	OR1B1
Name	olfactory receptor family 1 subfamily B member 1
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	OR9-B
Ensembl gene	ENSG00000280094
Ensembl biotype	protein_coding
Entrez	347169

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000623530, ENST00000707075

RefSeq mRNA: 2 — MANE Select: NM_001004450 NM_001004450, NM_001409693

Canonical transcript exons

ENST00000623530 — 2 exons

Exon	Start	End
ENSE00001167158	122628125	122629969
ENSE00003998161	122657532	122657627

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 41.85.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	41.85	gold quality
cortical plate	UBERON:0005343	40.58	silver quality
bone marrow cell	CL:0002092	40.52	gold quality
tonsil	UBERON:0002372	39.29	gold quality
sural nerve	UBERON:0015488	38.92	gold quality
bone marrow	UBERON:0002371	38.15	gold quality
apex of heart	UBERON:0002098	36.87	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
calcaneal tendon	UBERON:0003701	33.99	gold quality
placenta	UBERON:0001987	33.98	silver quality
endometrium	UBERON:0001295	33.37	gold quality
uterine cervix	UBERON:0000002	33.10	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	32.64	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
lymph node	UBERON:0000029	31.83	silver quality
corpus callosum	UBERON:0002336	31.67	gold quality
liver	UBERON:0002107	31.33	gold quality
prefrontal cortex	UBERON:0000451	30.48	gold quality
tibial nerve	UBERON:0001323	30.39	gold quality
right lung	UBERON:0002167	30.15	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
myometrium	UBERON:0001296	29.42	gold quality
cortex of kidney	UBERON:0001225	29.33	gold quality
gall bladder	UBERON:0002110	29.03	silver quality
superior frontal gyrus	UBERON:0002661	28.90	gold quality
skin of leg	UBERON:0001511	28.58	gold quality
smooth muscle tissue	UBERON:0001135	28.31	silver quality
duodenum	UBERON:0002114	28.14	gold quality
islet of Langerhans	UBERON:0000006	27.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1b1	ENSMUSG00000075377
rattus_norvegicus	Or1b1	ENSRNOG00000089548

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 1B1 — Q8NGR6 (reviewed: Q8NGR6)

Alternative names: Olfactory receptor 9-B, Olfactory receptor OR9-26

All UniProt accessions (2): A0A9L9PY52, Q8NGR6

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon at position Arg-192 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in non-Africans than in African-Americans.

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

RefSeq proteins (2): NP_001004450, NP_001396622 (=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 4, glycosylation site 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGR6-F1	87.70	0.60

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): 98–184

Glycosylation sites (2): 6, 22

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 16 (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_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, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, chr9q33

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

146 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1B1	SRRM5	B3KS81	620
OR1B1	KRTAP13-2	Q52LG2	573
OR1B1	LRRC70	Q7Z2Q7	474
OR1B1	FAM114A2	Q9NRY5	379
OR1B1	FBXO15	Q8NCQ5	356
OR1B1	ADCY3	O60266	353
OR1B1	TAS2R20	P59543	353
OR1B1	TMCO1	Q9UM00	353
OR1B1	TRIOBP	Q9H2D6	353
OR1B1	LAMA1	P25391	349
OR1B1	ADCY8	P40145	342
OR1B1	DCDC1	P59894	324
OR1B1	KRTAP1-1	Q07627	322
OR1B1	PROZ	P22891	318
OR1B1	TCP11	Q8WWU5	317

IntAct

0 interactions, top by confidence:

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: A3KFT3, A6NM03, O42329, O73810, O77808, O88721, O88855, P0C0L6, P0C0W8, P21917, P30518, P30559, P30560, P32251, P32306, P32307, P37288, P47901, P48043, P48044, P48974, P53453, P56449, P56494, P59922, P70536, P97266, P97926, Q00788, Q13607, Q15722, Q28756, Q3T181, Q56H79, Q5JQS5, Q5W9T5, Q5WA50, Q60883, Q61H86, Q62463

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

245 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122629324:A:AC	donor_gain	0.9200
9:122629349:A:AC	donor_gain	0.8700
9:122629354:A:C	donor_gain	0.8300
9:122628855:A:T	acceptor_gain	0.7800
9:122629303:A:C	donor_gain	0.7000
9:122629406:T:A	donor_gain	0.6900
9:122629350:A:AT	donor_gain	0.6800
9:122629351:T:TT	donor_gain	0.6800
9:122628854:C:CT	acceptor_gain	0.6600
9:122628854:C:T	acceptor_gain	0.6500
9:122628761:C:CT	acceptor_gain	0.6400
9:122629532:T:C	donor_gain	0.6100
9:122628980:C:CT	acceptor_gain	0.6000
9:122628974:G:T	acceptor_gain	0.5900
9:122628853:CCAA:C	acceptor_gain	0.5800
9:122628859:C:CT	acceptor_gain	0.5600
9:122628864:A:C	acceptor_gain	0.5500
9:122628849:G:T	acceptor_gain	0.5400
9:122628913:T:TG	acceptor_gain	0.5400
9:122628973:C:CT	acceptor_gain	0.5400
9:122629471:G:C	donor_gain	0.5400
9:122628982:C:CT	acceptor_gain	0.5300
9:122628691:A:AC	donor_gain	0.5100
9:122628692:C:CC	donor_gain	0.5100
9:122628839:G:C	acceptor_gain	0.5100
9:122628856:A:AC	acceptor_gain	0.4900
9:122628860:G:T	acceptor_gain	0.4900
9:122628590:CCT:C	donor_gain	0.4800
9:122629343:G:C	donor_gain	0.4800
9:122629352:A:AC	donor_gain	0.4600

AlphaMissense

2049 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122628987:G:C	F183L	0.902
9:122628987:G:T	F183L	0.902
9:122628989:A:G	F183L	0.902
9:122629494:A:C	F14L	0.888
9:122629494:A:T	F14L	0.888
9:122629496:A:G	F14L	0.888
9:122628984:A:C	F184L	0.877
9:122628984:A:T	F184L	0.877
9:122628986:A:G	F184L	0.877
9:122629086:G:C	S150R	0.850
9:122629086:G:T	S150R	0.850
9:122629088:T:G	S150R	0.850
9:122629176:C:A	M120I	0.799
9:122629176:C:G	M120I	0.799
9:122629176:C:T	M120I	0.799
9:122629479:G:C	F19L	0.796
9:122629479:G:T	F19L	0.796
9:122629481:A:G	F19L	0.796
9:122629224:A:C	F104L	0.795
9:122629224:A:T	F104L	0.795
9:122629226:A:G	F104L	0.795
9:122629230:C:A	Q102H	0.790
9:122629230:C:G	Q102H	0.790
9:122629240:C:G	C99S	0.788
9:122629241:A:T	C99S	0.788
9:122629437:G:C	F33L	0.788
9:122629437:G:T	F33L	0.788
9:122629439:A:G	F33L	0.788
9:122629239:G:C	C99W	0.782
9:122629241:A:G	C99R	0.782

dbSNP variants (sampled 300 via entrez): RS1000059463 (9:122647268 A>C), RS1000083801 (9:122650162 C>T), RS1000265879 (9:122653765 T>C), RS1000428429 (9:122656943 A>G), RS1000684524 (9:122636027 T>C), RS1000861507 (9:122649064 T>C), RS1000949251 (9:122636581 A>G), RS1001002153 (9:122654912 A>G), RS1001009112 (9:122655616 A>T), RS1001062395 (9:122636869 T>C), RS1001243664 (9:122630823 T>A), RS1001351023 (9:122628171 A>G), RS1001531355 (9:122645843 C>G), RS1001550653 (9:122634031 C>T), RS1001626280 (9:122640007 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

1 associations (top):

Study	Trait	p-value
GCST009391_1550	Metabolite levels	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009776	ornithine measurement

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
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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