OR14J1

Summary

OR14J1 (olfactory receptor family 14 subfamily J member 1, HGNC:13971) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 14J1 (Q9UGF5). 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 442191 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_030946

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13971
Approved symbol	OR14J1
Name	olfactory receptor family 14 subfamily J member 1
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-28
Ensembl gene	ENSG00000204695
Ensembl biotype	protein_coding
Entrez	442191

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000377160, ENST00000641895

RefSeq mRNA: 1 — MANE Select: NM_030946 NM_030946

CCDS: CCDS34362

Canonical transcript exons

ENST00000230221 — 0 exons

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 47.13.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	47.13	gold quality
colonic epithelium	UBERON:0000397	45.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	45.01	gold quality
skeletal muscle tissue	UBERON:0001134	44.17	gold quality
cortical plate	UBERON:0005343	43.25	gold quality
testis	UBERON:0000473	42.57	silver quality
sural nerve	UBERON:0015488	40.66	gold quality
bone marrow	UBERON:0002371	40.44	gold quality
muscle tissue	UBERON:0002385	40.08	gold quality
ventricular zone	UBERON:0003053	39.88	gold quality
stromal cell of endometrium	CL:0002255	39.87	gold quality
calcaneal tendon	UBERON:0003701	39.55	gold quality
monocyte	CL:0000576	39.14	gold quality
tonsil	UBERON:0002372	38.84	gold quality
ganglionic eminence	UBERON:0004023	38.82	gold quality
right testis	UBERON:0004534	38.35	gold quality
leukocyte	CL:0000738	38.10	gold quality
left testis	UBERON:0004533	37.76	gold quality
uterine cervix	UBERON:0000002	35.69	gold quality
primary visual cortex	UBERON:0002436	35.39	gold quality
superior frontal gyrus	UBERON:0002661	34.91	gold quality
apex of heart	UBERON:0002098	34.76	gold quality
mucosa of transverse colon	UBERON:0004991	34.63	gold quality
adrenal tissue	UBERON:0018303	34.10	gold quality
gall bladder	UBERON:0002110	33.15	gold quality
prefrontal cortex	UBERON:0000451	33.10	gold quality
rectum	UBERON:0001052	33.07	gold quality
blood	UBERON:0000178	32.67	gold quality
right adrenal gland cortex	UBERON:0035827	32.57	gold quality
muscle of leg	UBERON:0001383	32.53	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	465.48
E-MTAB-5061	yes	16.11
E-GEOD-83139	no	151.83
E-MTAB-7249	no	120.15
E-GEOD-81547	no	19.32
E-GEOD-99795	no	19.26
E-ENAD-27	no	4.41
E-ANND-3	no	0.15

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or14j1	ENSMUSG00000050613
rattus_norvegicus	Or14j1	ENSRNOG00000073425

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), 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)

Protein

Protein identifiers

Olfactory receptor 14J1 — Q9UGF5 (reviewed: Q9UGF5)

Alternative names: Hs6M1-28, Olfactory receptor 5U1, Olfactory receptor OR6-25

All UniProt accessions (2): Q9UGF5, A0A126GW10

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_112208* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	Family

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UGF5-F1	87.60	0.56

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): 95–187

Glycosylation sites (1): 3

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: 18 (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, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

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-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
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

256 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR14J1	POM121L2	Q96KW2	478
OR14J1	YAE1	Q9NRH1	447
OR14J1	ZNF311	Q5JNZ3	447
OR14J1	E9PCK9	E9PCK9	371
OR14J1	DISP3	Q9P2K9	368
OR14J1	CCDC3	Q9BQI4	349
OR14J1	NUPR2	A6NF83	348
OR14J1	MCTP2	Q6DN12	324
OR14J1	GRID2IP	A4D2P6	323
OR14J1	SLC5A9	Q2M3M2	320
OR14J1	C6orf15	Q6UXA7	311
OR14J1	TSBP1	Q5SRN2	306
OR14J1	APELA	P0DMC3	290
OR14J1	FUT9	Q9Y231	289
OR14J1	KDELR2	P33947	276

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR14J1	BST1	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): PRSS21 (Affinity Capture-MS), KCNIP1 (Affinity Capture-MS), BST1 (Affinity Capture-MS)

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

Diamond homologs: A4D2G3, A6ND48, A6NL26, O43749, O60412, O76099, P0C7N5, P0DMU2, P0DN82, P23265, P23266, P23269, P23272, P23273, P23274, P30953, P30955, P34984, P34985, P34986, P35896, P47887, P47890, P58173, P58181, P58182, P70526, Q0VAX9, Q13606, Q13607, Q15617, Q15619, Q60893, Q6IFN5, Q6UXT6, Q7TQQ0, Q7TRF3, Q8N127, Q8NG98, Q8NGA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

217 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29307442:A:AG	acceptor_gain	0.6600
6:29307443:G:GG	acceptor_gain	0.6600
6:29307045:ACAGG:A	donor_loss	0.6500
6:29307046:CAGG:C	donor_loss	0.6500
6:29307047:AG:A	donor_loss	0.6500
6:29307048:GG:G	donor_loss	0.6500
6:29307049:G:GA	donor_loss	0.6500
6:29307050:T:A	donor_loss	0.6500
6:29307355:A:AG	acceptor_gain	0.6500
6:29307356:G:GG	acceptor_gain	0.6500
6:29306743:GC:G	donor_gain	0.6400
6:29307337:C:G	acceptor_gain	0.6400
6:29306859:T:G	donor_gain	0.6300
6:29307227:CCTCA:C	acceptor_loss	0.6000
6:29307228:CTCA:C	acceptor_loss	0.6000
6:29307229:TCAG:T	acceptor_loss	0.6000
6:29307230:CA:C	acceptor_loss	0.6000
6:29307231:A:C	acceptor_loss	0.6000
6:29307232:G:GA	acceptor_loss	0.6000
6:29307442:AGCT:A	acceptor_gain	0.5900
6:29307443:GCTG:G	acceptor_gain	0.5900
6:29307327:T:TA	acceptor_gain	0.5800
6:29307218:T:A	acceptor_loss	0.5600
6:29307223:T:TA	acceptor_loss	0.5500
6:29307375:C:G	donor_gain	0.5500
6:29307440:TCAGC:T	acceptor_gain	0.5500
6:29307044:GACAG:G	donor_gain	0.5400
6:29307222:A:AG	acceptor_loss	0.5400
6:29307269:G:GC	acceptor_gain	0.5400
6:29307338:A:AG	acceptor_gain	0.5400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000182824 (6:29304244 CAT>C), RS1000335825 (6:29301659 T>G), RS1000367031 (6:29301401 A>AT), RS1000811698 (6:29310403 G>A,C), RS1001710518 (6:29303471 A>C), RS1001822421 (6:29311037 A>G), RS1001993622 (6:29302050 T>C), RS1002044403 (6:29301835 T>C,G), RS1002205173 (6:29309148 T>A), RS1002532790 (6:29299710 C>A,T), RS1002701915 (6:29305147 G>T), RS1002791118 (6:29305858 A>G), RS1003128713 (6:29306092 A>G), RS1003215189 (6:29312457 A>C,G), RS1003564961 (6:29313287 GT>G,GTT)

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

28 associations (top):

Study	Trait	p-value
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_176	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_212	Autism spectrum disorder or schizophrenia	5.000000e-14
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_7	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_84	Autism spectrum disorder or schizophrenia	1.000000e-12
GCST004521_91	Autism spectrum disorder or schizophrenia	1.000000e-11
GCST004748_95	Lung cancer	4.000000e-12
GCST004748_96	Lung cancer	1.000000e-12
GCST004749_81	Lung cancer in ever smokers	8.000000e-08
GCST004750_46	Squamous cell lung carcinoma	3.000000e-12
GCST006575_12	Takayasu arteritis	7.000000e-06
GCST006810_15	Self-reported risk-taking behaviour	7.000000e-09
GCST007324_28	Adventurousness	3.000000e-08
GCST008916_89	Asthma	2.000000e-10
GCST008921_5	Asthma and major depressive disorder	4.000000e-10
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010219_8	Attention deficit hyperactivity disorder (inattention symptoms)	2.000000e-07
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Copper	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Asbestos, Crocidolite	affects expression	1
Sodium Selenite	increases expression	1

Clinical trials (associated diseases)

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