OR6J1

Summary

OR6J1 (olfactory receptor family 6 subfamily J member 1, HGNC:14707) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 6J1 (Q8NGC5). 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 79549 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001348233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14707
Approved symbol	OR6J1
Name	olfactory receptor family 6 subfamily J member 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000255804
Ensembl biotype	protein_coding
Entrez	79549

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000540461

RefSeq mRNA: 1 — MANE Select: NM_001348233 NM_001348233

CCDS: CCDS86371

Canonical transcript exons

ENST00000540461 — 2 exons

Exon	Start	End
ENSE00002303935	22630929	22634838
ENSE00003813443	22644098	22644352

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 48.37.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	48.37	gold quality
stromal cell of endometrium	CL:0002255	47.95	gold quality
colonic epithelium	UBERON:0000397	45.86	gold quality
skeletal muscle tissue	UBERON:0001134	42.27	gold quality
ganglionic eminence	UBERON:0004023	42.14	gold quality
superior frontal gyrus	UBERON:0002661	40.42	gold quality
sural nerve	UBERON:0015488	39.91	gold quality
ventricular zone	UBERON:0003053	39.88	gold quality
bone marrow	UBERON:0002371	39.08	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.93	gold quality
muscle tissue	UBERON:0002385	38.68	gold quality
lower esophagus mucosa	UBERON:0035834	38.16	gold quality
liver	UBERON:0002107	38.08	gold quality
duodenum	UBERON:0002114	36.63	gold quality
tonsil	UBERON:0002372	36.52	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
islet of Langerhans	UBERON:0000006	35.75	gold quality
lymph node	UBERON:0000029	35.50	gold quality
urinary bladder	UBERON:0001255	35.19	gold quality
leukocyte	CL:0000738	34.44	gold quality
granulocyte	CL:0000094	34.10	gold quality
calcaneal tendon	UBERON:0003701	33.69	gold quality
right coronary artery	UBERON:0001625	33.66	gold quality
prefrontal cortex	UBERON:0000451	33.56	gold quality
monocyte	CL:0000576	33.47	gold quality
primary visual cortex	UBERON:0002436	33.47	gold quality
blood	UBERON:0000178	32.95	gold quality
right lobe of liver	UBERON:0001114	32.58	gold quality
pancreas	UBERON:0001264	32.12	gold quality
mucosa of stomach	UBERON:0001199	31.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	20.99
E-ANND-3	no	2.44

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (18): OR6F1 (ENSG00000169214), OR2AP1 (ENSG00000179615), OR6C4 (ENSG00000179626), OR6C2 (ENSG00000179695), OR6T1 (ENSG00000181499), OR6S1 (ENSG00000181803), OR6C70 (ENSG00000184954), OR6C76 (ENSG00000185821), OR6C75 (ENSG00000187857), OR6C6 (ENSG00000188324), OR6M1 (ENSG00000196099), OR6C74 (ENSG00000197706), OR6C68 (ENSG00000205327), OR6C65 (ENSG00000205328), OR6C3 (ENSG00000205329), OR6C1 (ENSG00000205330), OR6X1 (ENSG00000221931), OR6V1 (ENSG00000225781)

Protein

Protein identifiers

Olfactory receptor 6J1 — Q8NGC5 (reviewed: Q8NGC5)

Alternative names: Olfactory receptor 6J2

All UniProt accessions (1): Q8NGC5

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_001335162* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR047132	Olfact_rcpt_6C-like	Family

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-Q8NGC5-F1	86.65	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): 96–188

Glycosylation sites (1): 3

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 15 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, chr14q11, GOBP_NERVOUS_SYSTEM_PROCESS

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

102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6J1	AADACL3	Q5VUY0	480
OR6J1	RRP36	Q96EU6	471
OR6J1	SHISA4	Q96DD7	447
OR6J1	MYORG	Q6NSJ0	420
OR6J1	TASOR	Q9UK61	377
OR6J1	IGSF3	O75054	348
OR6J1	RNLS	Q5VYX0	323
OR6J1	TIPIN	Q9BVW5	274
OR6J1	DAD1	P46966	271
OR6J1	MARK3	P27448	267
OR6J1	LCN10	Q6JVE6	250
OR6J1	GTF3C6	Q969F1	248
OR6J1	ZNF443	Q9Y2A4	223
OR6J1	VXN	Q8TAG6	223
OR6J1	ARF4	P18085	223

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR6J1	HSPD1	psi-mi:“MI:0915”(physical association)	0.400

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: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O76001, O76002, O76100, O95007, P0C623, P0C626, P23266, P23267, P23272, P23274, P30953, P30955, P34985, P58173, P59922, P70526, Q13606, Q5TZ20, Q60882, Q60890, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N146, Q8N148, Q8N162, Q8N628, Q8NGA1, Q8NGC5, Q8NGE1, Q8NGE2, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

329 predictions. Top by Δscore:

Variant	Effect	Δscore
14:22634527:T:TA	donor_gain	0.7700
14:22634639:A:C	donor_gain	0.7000
14:22633919:C:CA	donor_gain	0.6800
14:22634358:AGCCT:A	donor_gain	0.6700
14:22634362:TCCC:T	donor_gain	0.6600
14:22634572:CA:C	donor_gain	0.6500
14:22634634:A:AC	donor_gain	0.6500
14:22633935:T:TA	donor_gain	0.6300
14:22634463:TG:T	donor_gain	0.6300
14:22634554:AGAT:A	donor_gain	0.6300
14:22634159:G:C	donor_gain	0.6200
14:22634486:A:C	donor_gain	0.6200
14:22634786:G:C	donor_gain	0.6200
14:22633819:T:TA	donor_gain	0.6100
14:22634057:C:CT	donor_gain	0.6100
14:22634200:C:CT	acceptor_gain	0.6100
14:22634154:T:C	donor_gain	0.6000
14:22634102:AAGG:A	donor_gain	0.5900
14:22634270:CCA:C	acceptor_gain	0.5900
14:22634271:CAC:C	acceptor_gain	0.5900
14:22634548:ATC:A	donor_gain	0.5900
14:22634058:C:CT	donor_gain	0.5800
14:22634464:G:T	donor_gain	0.5800
14:22634528:C:A	donor_gain	0.5800
14:22634201:A:C	acceptor_gain	0.5700
14:22634495:A:T	acceptor_gain	0.5700
14:22634557:T:TA	donor_gain	0.5700
14:22634494:C:CT	acceptor_gain	0.5600
14:22633908:C:A	donor_gain	0.5500
14:22634101:AAAGG:A	donor_gain	0.5500

AlphaMissense

2243 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:22634779:A:C	F11L	0.950
14:22634779:A:T	F11L	0.950
14:22634781:A:G	F11L	0.950
14:22634311:G:C	F167L	0.936
14:22634311:G:T	F167L	0.936
14:22634313:A:G	F167L	0.936
14:22634764:A:C	F16L	0.892
14:22634764:A:T	F16L	0.892
14:22634766:A:G	F16L	0.892
14:22633978:A:C	S278R	0.865
14:22633978:A:T	S278R	0.865
14:22633980:T:G	S278R	0.865
14:22634284:G:C	F176L	0.864
14:22634284:G:T	F176L	0.864
14:22634286:A:G	F176L	0.864
14:22634780:A:C	F11C	0.852
14:22634281:G:C	F177L	0.835
14:22634281:G:T	F177L	0.835
14:22634283:A:G	F177L	0.835
14:22634780:A:G	F11S	0.823
14:22634264:A:G	L183S	0.809
14:22634279:C:G	C178S	0.797
14:22634280:A:T	C178S	0.797
14:22634515:C:A	Q99H	0.784
14:22634515:C:G	Q99H	0.784
14:22634710:G:C	F34L	0.781
14:22634710:G:T	F34L	0.781
14:22634712:A:G	F34L	0.781
14:22634526:A:G	C96R	0.776
14:22634101:A:C	F237L	0.775

dbSNP variants (sampled 300 via entrez): RS1000212121 (14:22636201 G>A,C), RS1000429119 (14:22631494 C>A,T), RS1000491674 (14:22630991 C>A,T), RS1000728999 (14:22640404 G>A), RS1000824239 (14:22632759 G>A), RS1001171712 (14:22632452 G>A,C), RS1002211168 (14:22643364 T>A,C), RS1002328794 (14:22643639 G>A), RS1002393160 (14:22633594 C>T), RS1002659418 (14:22645061 G>A), RS1002747396 (14:22633805 G>A), RS1002836449 (14:22634348 A>G), RS1003133656 (14:22634640 T>C), RS1003223122 (14:22631247 T>C), RS1003288003 (14:22635330 A>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

0 associations (top):

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
sodium arsenite	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

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