OR1J1

Summary

OR1J1 (olfactory receptor family 1 subfamily J member 1, HGNC:8208) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1J1 (Q8NGS3). 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 347168 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_001004451

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8208
Approved symbol	OR1J1
Name	olfactory receptor family 1 subfamily J member 1
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	hg32
Ensembl gene	ENSG00000136834
Ensembl biotype	protein_coding
Entrez	347168

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000259357

RefSeq mRNA: 1 — MANE Select: NM_001004451 NM_001004451

CCDS: CCDS35120

Canonical transcript exons

ENST00000259357 — 1 exons

Exon	Start	End
ENSE00000806532	122476958	122477926

Expression profiles

Bgee: expression breadth broad, 11 present calls, max score 88.29.

Top tissues by expression

120 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	88.29	gold quality
colonic epithelium	UBERON:0000397	42.98	gold quality
endometrium	UBERON:0001295	39.91	silver quality
bone marrow cell	CL:0002092	38.50	gold quality
mucosa of stomach	UBERON:0001199	38.04	silver quality
sural nerve	UBERON:0015488	37.11	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow	UBERON:0002371	35.71	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.03	gold quality
muscle tissue	UBERON:0002385	33.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
primary visual cortex	UBERON:0002436	31.10	gold quality
corpus callosum	UBERON:0002336	30.67	gold quality
lymph node	UBERON:0000029	30.48	silver quality
liver	UBERON:0002107	30.14	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.81	gold quality
monocyte	CL:0000576	29.79	gold quality
leukocyte	CL:0000738	29.59	gold quality
right lung	UBERON:0002167	29.53	silver quality
gall bladder	UBERON:0002110	29.05	gold quality
blood	UBERON:0000178	28.31	gold quality
duodenum	UBERON:0002114	28.14	gold quality
smooth muscle tissue	UBERON:0001135	28.10	gold quality
adrenal tissue	UBERON:0018303	27.93	gold quality
ectocervix	UBERON:0012249	27.71	silver quality
uterine cervix	UBERON:0000002	27.67	silver quality
islet of Langerhans	UBERON:0000006	27.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1j1	ENSMUSG00000075384
rattus_norvegicus	Or1j1	ENSRNOG00000007911

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), 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 1J1 — Q8NGS3 (reviewed: Q8NGS3)

Alternative names: Olfactory receptor OR9-18

All UniProt accessions (2): A0A126GWP9, Q8NGS3

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_001004451* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGS3-F1	88.04	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): 97–189

Glycosylation sites (1): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1J1	USP17L19	D6RCP7	594
OR1J1	USP17L15	C9J2P7	590
OR1J1	ORMDL2	Q53FV1	476
OR1J1	LINC03040	Q8N319	397
OR1J1	CCIN	Q13939	390
OR1J1	LACTB	P83096	373
OR1J1	KRT31	Q15323	367
OR1J1	STON1	Q9Y6Q2	365
OR1J1	CYB5RL	Q6IPT4	349
OR1J1	SIRAL2	Q9NWS6	348
OR1J1	KRT37	O76014	325
OR1J1	CYB5R4	Q7L1T6	322
OR1J1	FAM98B	Q52LJ0	320
OR1J1	ACTL7B	Q9Y614	316
OR1J1	ARPC5L	Q9BPX5	315

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

171 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122477640:C:A	donor_gain	0.8900
9:122477776:G:C	donor_gain	0.8500
9:122477828:G:A	donor_gain	0.7600
9:122477639:T:TA	donor_gain	0.7200
9:122477826:A:C	donor_gain	0.6700
9:122477808:A:AC	donor_gain	0.6600
9:122477853:G:GA	donor_gain	0.6600
9:122477272:C:CT	acceptor_gain	0.6200
9:122477185:CCA:C	donor_gain	0.6000
9:122477185:C:CT	donor_gain	0.5800
9:122477821:G:C	donor_gain	0.5800
9:122477813:C:CT	donor_gain	0.5500
9:122477097:A:AC	donor_gain	0.5400
9:122477226:ATGC:A	donor_gain	0.5300
9:122477261:CCCAA:C	acceptor_gain	0.5300
9:122477688:T:C	acceptor_gain	0.5300
9:122477749:A:AC	donor_gain	0.5300
9:122477750:C:CC	donor_gain	0.5300
9:122477282:CAGGA:C	acceptor_gain	0.5200
9:122477338:A:AC	donor_gain	0.5200
9:122477339:C:CC	donor_gain	0.5200
9:122477746:A:AC	donor_gain	0.4900
9:122477751:A:C	donor_gain	0.4900
9:122477806:CCA:C	donor_gain	0.4900
9:122477807:CA:C	donor_gain	0.4900
9:122477133:C:CC	acceptor_gain	0.4700
9:122477186:C:CT	donor_gain	0.4700
9:122477805:CCCA:C	donor_gain	0.4700
9:122477895:TCGGA:T	donor_gain	0.4700
9:122477896:CGGAC:C	donor_gain	0.4700

AlphaMissense

2107 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122477891:G:C	F12L	0.840
9:122477891:G:T	F12L	0.840
9:122477893:A:G	F12L	0.840
9:122477423:G:C	F168L	0.808
9:122477423:G:T	F168L	0.808
9:122477425:A:G	F168L	0.808
9:122477393:G:C	F178L	0.706
9:122477393:G:T	F178L	0.706
9:122477395:A:G	F178L	0.706
9:122477834:G:C	F31L	0.663
9:122477834:G:T	F31L	0.663
9:122477836:A:G	F31L	0.663
9:122477063:G:C	F288L	0.648
9:122477063:G:T	F288L	0.648
9:122477065:A:G	F288L	0.648
9:122477744:G:C	F61L	0.594
9:122477744:G:T	F61L	0.594
9:122477746:A:G	F61L	0.594
9:122477054:A:C	S291R	0.585
9:122477054:A:T	S291R	0.585
9:122477056:T:G	S291R	0.585
9:122477708:A:C	F73L	0.573
9:122477708:A:T	F73L	0.573
9:122477710:A:G	F73L	0.573

dbSNP variants (sampled 300 via entrez): RS1000749604 (9:122476710 C>CT), RS1002042368 (9:122479528 C>T), RS1002386194 (9:122477054 A>C), RS1003063560 (9:122479825 A>C,G,T), RS1003307159 (9:122478394 T>C), RS1003397579 (9:122478669 A>G), RS1003602231 (9:122478638 T>C), RS1004864466 (9:122477569 A>G), RS1007192173 (9:122478294 C>T), RS1007393140 (9:122478006 C>T), RS1009575836 (9:122477712 G>A), RS1011357947 (9:122477109 A>G,T), RS1012036017 (9:122479853 T>C), RS1013867748 (9:122476786 A>G), RS1017927046 (9:122478738 T>C)

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
GCST003139_11	Glomerular filtration rate in chronic kidney disease	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
Cadmium	decreases expression	1
Asbestos, Crocidolite	decreases expression	1

Clinical trials (associated diseases)

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