OR6V1

Summary

OR6V1 (olfactory receptor family 6 subfamily V member 1, HGNC:15090) is a protein-coding gene on chromosome 7q34, encoding Olfactory receptor 6V1 (Q8N148). 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 346517 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001001667

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15090
Approved symbol	OR6V1
Name	olfactory receptor family 6 subfamily V member 1
Location	7q34
Locus type	gene with protein product
Status	Approved
Aliases	GPR138
Ensembl gene	ENSG00000225781
Ensembl biotype	protein_coding
Entrez	346517

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000418316

RefSeq mRNA: 1 — MANE Select: NM_001001667 NM_001001667

CCDS: CCDS47728

Canonical transcript exons

ENST00000418316 — 1 exons

Exon	Start	End
ENSE00004472048	143052341	143053282

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 95.65.

Top tissues by expression

118 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	95.65	gold quality
corpus callosum	UBERON:0002336	72.37	gold quality
sural nerve	UBERON:0015488	56.20	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skeletal muscle tissue	UBERON:0001134	36.95	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
calcaneal tendon	UBERON:0003701	35.05	gold quality
muscle tissue	UBERON:0002385	33.68	gold quality
tonsil	UBERON:0002372	33.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
primary visual cortex	UBERON:0002436	30.87	gold quality
urinary bladder	UBERON:0001255	29.95	gold quality
liver	UBERON:0002107	29.94	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
blood	UBERON:0000178	29.02	gold quality
monocyte	CL:0000576	28.41	gold quality
leukocyte	CL:0000738	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
placenta	UBERON:0001987	27.56	gold quality
superior frontal gyrus	UBERON:0002661	27.25	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
uterine cervix	UBERON:0000002	26.04	gold quality
muscle of leg	UBERON:0001383	25.99	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• This publication uses ‘GPR138’ as a name for this gene. (PMID:12732197)

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), OR6J1 (ENSG00000255804)

Protein

Protein identifiers

Olfactory receptor 6V1 — Q8N148 (reviewed: Q8N148)

Alternative names: Olfactory receptor OR7-3

All UniProt accessions (2): Q8N148, A0A126GWQ4

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_001001667* (*=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-Q8N148-F1	87.22	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

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, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, 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, SUPT16H_TARGET_GENES, ZNF512_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

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

98 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR6V1	GPR137	Q96N19	397
OR6V1	GPR139	Q6DWJ6	392
OR6V1	OPN5	Q6U736	348
OR6V1	ADGRD1	Q6QNK2	323
OR6V1	GPR135	Q8IZ08	306
OR6V1	CATSPERG	Q6ZRH7	245
OR6V1	CATSPERD	Q86XM0	213
OR6V1	CATSPER4	Q7RTX7	211
OR6V1	GPR183	P32249	204
OR6V1	CATSPER3	Q86XQ3	198
OR6V1	RTP2	Q5QGT7	196
OR6V1	CATSPERB	Q9H7T0	194
OR6V1	DNAJC28	Q9NX36	189
OR6V1	OR52M1	Q8NGK5	186
OR6V1	DNAJC24	Q6P3W2	185

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O43749, O76001, O76002, O76100, O95006, P0DMU2, P23266, P23269, P23272, P23274, P30953, P30955, P58173, P59922, P70526, Q13607, Q15619, Q60890, Q6UXT6, Q8N148, Q8N628, Q8NGA6, Q8NGL2, Q8NGS0, Q8NGS2, Q8NGX8, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NH04, Q8VGI1, Q8VGK5, Q8VGR9, Q95156, Q96R09, Q96R47, Q96R48, Q96R84, Q9GZK6

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

256 predictions. Top by Δscore:

Variant	Effect	Δscore
7:143052959:A:AG	acceptor_gain	0.6900
7:143052960:G:GG	acceptor_gain	0.6900
7:143052892:GTT:G	acceptor_gain	0.6400
7:143052748:GGC:G	donor_gain	0.6200
7:143052873:ACAAT:A	donor_gain	0.6100
7:143052960:GCTC:G	acceptor_gain	0.5900
7:143052891:A:AG	acceptor_gain	0.5800
7:143052892:G:GG	acceptor_gain	0.5800
7:143052960:GCT:G	acceptor_gain	0.5400
7:143052988:T:TA	acceptor_gain	0.5200
7:143052960:GCTCC:G	acceptor_gain	0.5000
7:143052997:A:AG	acceptor_gain	0.5000
7:143052998:G:GG	acceptor_gain	0.5000
7:143052574:G:GT	donor_gain	0.4900
7:143052749:GC:G	donor_gain	0.4900
7:143052750:C:G	donor_gain	0.4800
7:143052893:T:TA	donor_gain	0.4700
7:143052822:G:GC	acceptor_gain	0.4600
7:143052974:A:AG	donor_gain	0.4600
7:143052975:C:G	donor_gain	0.4500
7:143053214:A:AG	acceptor_gain	0.4500
7:143053219:GACA:G	acceptor_gain	0.4500
7:143052740:A:G	donor_gain	0.4400
7:143052821:C:CA	acceptor_gain	0.4400
7:143053148:A:T	donor_gain	0.4400
7:143052474:T:G	donor_gain	0.4300
7:143053092:G:GG	donor_gain	0.4300
7:143052400:GC:G	donor_gain	0.4100
7:143052555:C:G	donor_gain	0.4100
7:143052955:CCTCA:C	acceptor_loss	0.4100

AlphaMissense

2052 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:143052647:T:C	F103L	0.877
7:143052649:T:A	F103L	0.877
7:143052649:T:G	F103L	0.877
7:143052368:T:C	F10L	0.853
7:143052370:T:A	F10L	0.853
7:143052370:T:G	F10L	0.853
7:143052383:T:C	F15L	0.811
7:143052385:C:A	F15L	0.811
7:143052385:C:G	F15L	0.811
7:143052863:T:C	F175L	0.803
7:143052865:C:A	F175L	0.803
7:143052865:C:G	F175L	0.803
7:143052635:T:C	F99L	0.794
7:143052637:C:A	F99L	0.794
7:143052637:C:G	F99L	0.794
7:143052866:T:C	F176L	0.774
7:143052868:C:A	F176L	0.774
7:143052868:C:G	F176L	0.774
7:143052791:T:C	F151L	0.772
7:143052793:C:A	F151L	0.772
7:143052793:C:G	F151L	0.772
7:143052701:T:C	F121L	0.746
7:143052703:T:A	F121L	0.746
7:143052703:T:G	F121L	0.746
7:143052668:T:C	F110L	0.732
7:143052670:C:A	F110L	0.732
7:143052670:C:G	F110L	0.732
7:143052959:A:C	S207R	0.717
7:143052961:C:A	S207R	0.717
7:143052961:C:G	S207R	0.717

dbSNP variants (sampled 300 via entrez): RS1000022529 (7:143051255 G>A), RS1001386208 (7:143051316 C>A,T), RS1001820598 (7:143050349 A>G), RS1002565793 (7:143051640 T>C,G), RS1003010602 (7:143050370 C>T), RS1004409918 (7:143050933 A>G), RS1004843511 (7:143050618 C>A,T), RS1005294152 (7:143050480 C>G), RS1006602392 (7:143052595 C>T), RS1008294562 (7:143053729 G>A), RS1009576810 (7:143051630 T>C), RS1010964958 (7:143051003 T>C), RS1011038939 (7:143052719 C>T), RS1011314856 (7:143051447 G>A), RS1012295098 (7:143051839 T>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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	1

Clinical trials (associated diseases)

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