OR1J4

Summary

OR1J4 (olfactory receptor family 1 subfamily J member 4, HGNC:8211) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1J4 (Q8NGS1). 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 26219 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001004452

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8211
Approved symbol	OR1J4
Name	olfactory receptor family 1 subfamily J member 4
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	HTPCRX01, HSHTPCRX01
Ensembl gene	ENSG00000239590
Ensembl biotype	protein_coding
Entrez	26219

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000340750

RefSeq mRNA: 1 — MANE Select: NM_001004452 NM_001004452

CCDS: CCDS35122

Canonical transcript exons

ENST00000340750 — 1 exons

Exon	Start	End
ENSE00001380709	122519141	122520082

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 47.39.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium	UBERON:0001295	47.39	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
colonic epithelium	UBERON:0000397	42.14	gold quality
lower lobe of lung	UBERON:0008949	41.63	silver quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	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
stromal cell of endometrium	CL:0002255	40.31	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.32

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1j4	ENSMUSG00000050015
rattus_norvegicus	Or1j4	ENSRNOG00000082562

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 1J4 — Q8NGS1 (reviewed: Q8NGS1)

Alternative names: HTPCRX01, Olfactory receptor OR9-21

All UniProt accessions (2): A0A126GW06, Q8NGS1

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_001004452* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGS1-F1	87.51	0.58

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: 19 (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, GSE11864_CSF1_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1J4	SMCO3	A2RU48	644
OR1J4	SATL1	Q86VE3	544
OR1J4	CBLL2	Q8N7E2	506
OR1J4	VN1R1	Q9GZP7	479
OR1J4	MROH6	A6NGR9	479
OR1J4	LRRIQ1	Q96JM4	448
OR1J4	JAKMIP3	Q5VZ66	418
OR1J4	NPIPA3	F8WFD2	407
OR1J4	MYO1H	Q8N1T3	400
OR1J4	VWA8	A3KMH1	397
OR1J4	M9MMK7	M9MMK7	373
OR1J4	SERPINA11	Q86U17	356
OR1J4	AP3B2	Q13367	348
OR1J4	CD300LG	Q6UXG3	336
OR1J4	SERPINA10	Q9UK55	333

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: 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

190 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122519239:C:T	donor_gain	0.8600
9:122519426:GG:G	donor_gain	0.8100
9:122519427:GG:G	donor_gain	0.8100
9:122519213:GC:G	donor_gain	0.7600
9:122519933:A:AG	acceptor_gain	0.7600
9:122519934:G:GG	acceptor_gain	0.7600
9:122519383:GTTAT:G	donor_gain	0.7500
9:122519384:TTATT:T	donor_gain	0.7500
9:122519258:C:CG	donor_gain	0.7300
9:122519162:A:AG	donor_gain	0.7000
9:122519163:G:GG	donor_gain	0.7000
9:122519158:GAGCA:G	donor_gain	0.6800
9:122519294:G:GT	donor_gain	0.6800
9:122519160:GCA:G	donor_gain	0.6700
9:122519165:GTGTC:G	donor_gain	0.6700
9:122519166:TGTCT:T	donor_gain	0.6700
9:122519167:GTCTG:G	donor_gain	0.6700
9:122519405:G:GT	donor_gain	0.6600
9:122519423:GCAGG:G	donor_gain	0.6300
9:122519850:C:G	donor_gain	0.6300
9:122519316:T:G	donor_gain	0.6200
9:122519387:T:TG	donor_gain	0.6200
9:122519801:ATTGG:A	acceptor_gain	0.6200
9:122519380:G:GT	donor_gain	0.6100
9:122519462:ACT:A	acceptor_gain	0.6000
9:122519167:GTC:G	donor_gain	0.5800
9:122519168:TCT:T	donor_gain	0.5800
9:122519149:G:GT	donor_gain	0.5600
9:122519169:C:G	donor_gain	0.5600
9:122519241:T:G	donor_gain	0.5600

AlphaMissense

2037 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122519174:T:C	F12L	0.853
9:122519176:C:A	F12L	0.853
9:122519176:C:G	F12L	0.853
9:122519505:G:C	R122P	0.837
9:122519494:G:A	M118I	0.815
9:122519494:G:C	M118I	0.815
9:122519494:G:T	M118I	0.815
9:122519642:T:C	F168L	0.807
9:122519644:T:A	F168L	0.807
9:122519644:T:G	F168L	0.807
9:122519496:C:A	A119E	0.782
9:122520011:A:C	S291R	0.746
9:122520013:C:A	S291R	0.746
9:122520013:C:G	S291R	0.746
9:122519669:T:C	F177L	0.740
9:122519671:C:A	F177L	0.740
9:122519671:C:G	F177L	0.740
9:122519503:T:A	D121E	0.739
9:122519503:T:G	D121E	0.739
9:122519318:T:C	F60L	0.734
9:122519320:C:A	F60L	0.734
9:122519320:C:G	F60L	0.734
9:122519513:G:C	A125P	0.705
9:122519502:A:C	D121A	0.701
9:122519585:T:A	W149R	0.700
9:122519585:T:C	W149R	0.700
9:122519495:G:C	A119P	0.696
9:122519498:T:G	Y120D	0.696
9:122519672:T:C	F178L	0.695
9:122519674:C:A	F178L	0.695

dbSNP variants (sampled 300 via entrez): RS1002399897 (9:122518850 T>C), RS1003299656 (9:122520166 G>A), RS1004383994 (9:122517411 A>G), RS1006242716 (9:122518536 A>G), RS1006875356 (9:122518172 T>C), RS1007324490 (9:122520329 A>G), RS1008893616 (9:122519446 T>A), RS1009114266 (9:122519141 A>C,G), RS1010102393 (9:122518080 C>A,T), RS1010334710 (9:122517351 C>T), RS1011751296 (9:122518874 C>A,T), RS10120714 (9:122518848 G>A), RS1012346788 (9:122518265 T>A,C), RS1013787239 (9:122518819 A>G), RS1013798544 (9:122518580 G>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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	2
CGP 52608	affects binding, increases reaction	1
Acetaminophen	decreases expression	1
Asbestos, Crocidolite	affects expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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