OR6F1

Summary

OR6F1 (olfactory receptor family 6 subfamily F member 1, HGNC:15027) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 6F1 (Q8NGZ6). 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 343169 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_001005286

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15027
Approved symbol	OR6F1
Name	olfactory receptor family 6 subfamily F member 1
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	OST731
Ensembl gene	ENSG00000169214
Ensembl biotype	protein_coding
Entrez	343169

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding

ENST00000641223, ENST00000641444, ENST00000641470, ENST00000641750, ENST00000642054

RefSeq mRNA: 1 — MANE Select: NM_001005286 NM_001005286

CCDS: CCDS31095

Canonical transcript exons

ENST00000641470 — 3 exons

Exon	Start	End
ENSE00001591631	247713891	247713954
ENSE00003812077	247711436	247712817
ENSE00003813170	247716331	247716646

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 49.94.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.94	gold quality
left testis	UBERON:0004533	47.53	gold quality
testis	UBERON:0000473	47.16	gold quality
right testis	UBERON:0004534	46.77	gold quality
sural nerve	UBERON:0015488	42.15	gold quality
colonic epithelium	UBERON:0000397	41.96	gold quality
bone marrow cell	CL:0002092	41.22	gold quality
granulocyte	CL:0000094	40.23	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
tonsil	UBERON:0002372	36.01	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	34.33	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
mucosa of stomach	UBERON:0001199	33.04	gold quality
muscle tissue	UBERON:0002385	32.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right uterine tube	UBERON:0001302	30.94	gold quality
endometrium	UBERON:0001295	30.59	gold quality
liver	UBERON:0002107	30.48	gold quality
leukocyte	CL:0000738	30.23	gold quality
left uterine tube	UBERON:0001303	29.95	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.74	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
transverse colon	UBERON:0001157	27.87	gold quality
smooth muscle tissue	UBERON:0001135	27.64	gold quality
lymph node	UBERON:0000029	27.57	gold quality
right coronary artery	UBERON:0001625	27.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.79

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or6f1	ENSMUSG00000054498
rattus_norvegicus	Or6f1	ENSRNOG00000080742

Paralogs (18): 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), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6F1 — Q8NGZ6 (reviewed: Q8NGZ6)

Alternative names: Olfactory receptor OR1-38

All UniProt accessions (2): Q8NGZ6, A0A126GV68

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_001005286* (*=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 (21 total): topological domain 8, transmembrane region 7, sequence variant 3, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGZ6-F1	88.06	0.61

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

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, chr1q44, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, MARTENS_TRETINOIN_RESPONSE_UP, 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

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-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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

259 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6F1	KRTAP5-11	Q6L8G4	576
OR6F1	KRTAP5-10	Q6L8G5	518
OR6F1	VN1R4	Q7Z5H5	479
OR6F1	VN1R2	Q8NFZ6	447
OR6F1	VN1R1	Q9GZP7	446
OR6F1	KRTAP5-7	Q6L8G8	445
OR6F1	CASP5	P51878	425
OR6F1	CNGA4	Q8IV77	370
OR6F1	KRTAP5-5	Q701N2	370
OR6F1	MRC1	P22897	366
OR6F1	CASP1	P29466	360
OR6F1	TAS2R13	Q9NYV9	355
OR6F1	GH1	P01241	353
OR6F1	A0A3B3ISS9	A0A3B3ISS9	353
OR6F1	TAS2R14	Q9NYV8	348

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O60403, O76001, O76002, O76100, O95006, O95047, P23269, P23272, P23274, P30953, P30955, P34984, P58173, P59922, P70526, Q13607, Q15619, Q15622, Q5TZ20, Q60890, Q6IF42, Q7Z3T1, Q8N628, Q8NGA6, Q8NGQ2, Q8NGT7, Q8NGT9, Q8NGX0, Q8NGY5, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NHA6, Q8VGD6, Q8VGI1, Q95156, Q96R30, Q96R45, Q96R47

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

222 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247712654:CA:C	donor_gain	0.8200
1:247712099:C:CT	acceptor_gain	0.7500
1:247712175:G:GA	donor_gain	0.6900
1:247712088:C:CC	acceptor_gain	0.6800
1:247712655:A:AC	donor_gain	0.6800
1:247712094:A:AC	acceptor_gain	0.6700
1:247711869:T:TA	donor_gain	0.6500
1:247712096:G:C	acceptor_gain	0.6200
1:247712629:CA:C	donor_gain	0.6200
1:247712630:A:AC	donor_gain	0.6100
1:247712086:TG:T	acceptor_gain	0.6000
1:247712102:A:C	acceptor_gain	0.6000
1:247712083:TGGTG:T	acceptor_gain	0.5900
1:247711866:ACTT:A	donor_gain	0.5800
1:247711867:CTTC:C	donor_gain	0.5800
1:247712094:A:C	acceptor_gain	0.5800
1:247712172:ACTG:A	donor_gain	0.5700
1:247712173:CTGC:C	donor_gain	0.5700
1:247712014:C:CT	donor_gain	0.5600
1:247712086:TGC:T	acceptor_loss	0.5600
1:247712088:C:CG	acceptor_loss	0.5600
1:247711870:C:A	donor_gain	0.5500
1:247712640:A:AC	donor_gain	0.5500
1:247712641:C:CC	donor_gain	0.5500
1:247712724:T:TA	donor_gain	0.5400
1:247711840:T:TA	donor_gain	0.5300
1:247711915:C:CT	donor_gain	0.5300
1:247712096:G:GC	acceptor_gain	0.5200
1:247711911:G:C	donor_gain	0.5100
1:247712085:GTGC:G	acceptor_gain	0.5100

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000655633 (1:247717837 G>A), RS1000802472 (1:247713081 C>T), RS1001042521 (1:247713433 C>T), RS1002171525 (1:247718436 A>G), RS1002209628 (1:247714044 T>C), RS1003051353 (1:247715507 G>A), RS1003528270 (1:247713417 C>A), RS1004772760 (1:247713001 T>C), RS1005209126 (1:247713382 T>C), RS1005426456 (1:247717069 C>T), RS1005523088 (1:247715532 CAT>C), RS1005796688 (1:247716707 G>A), RS1006474785 (1:247715243 T>G), RS1006732328 (1:247711420 A>G), RS1006996606 (1:247717851 A>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

1 associations (top):

Study	Trait	p-value
GCST003830_8	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change measurement

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
CGP 52608	affects binding, increases reaction	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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