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Atlas / Gene / OR5V1

OR5V1

gene
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Also known as hs6M1-21

Summary

OR5V1 (olfactory receptor family 5 subfamily V member 1, HGNC:13972) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 5V1 (Q9UGF6). 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 81696 — RefSeq curated summary.

At a glance

  • GWAS associations: 43
  • Clinical variants (ClinVar): 43 total
  • MANE Select transcript: NM_030876

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13972
Approved symbolOR5V1
Nameolfactory receptor family 5 subfamily V member 1
Location6p22.1
Locus typegene with protein product
StatusApproved
Aliaseshs6M1-21
Ensembl geneENSG00000243729
Ensembl biotypeprotein_coding
Entrez81696

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000377154, ENST00000641768

RefSeq mRNA: 1 — MANE Select: NM_030876 NM_030876

CCDS: CCDS4657

Canonical transcript exons

ENST00000230223 — 0 exons

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 91.32.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047391.32gold quality
colonic epitheliumUBERON:000039737.20gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
ganglionic eminenceUBERON:000402335.49gold quality
right uterine tubeUBERON:000130233.40gold quality
skeletal muscle tissueUBERON:000113433.38gold quality
testisUBERON:000047332.95silver quality
left testisUBERON:000453332.94silver quality
monocyteCL:000057632.48gold quality
hindlimb stylopod muscleUBERON:000425232.15gold quality
leukocyteCL:000073832.04gold quality
bone marrowUBERON:000237131.74gold quality
muscle tissueUBERON:000238531.06gold quality
right testisUBERON:000453430.67silver quality
stromal cell of endometriumCL:000225529.87gold quality
prefrontal cortexUBERON:000045129.43gold quality
duodenumUBERON:000211428.14gold quality
liverUBERON:000210728.04gold quality
lymph nodeUBERON:000002927.57gold quality
placentaUBERON:000198727.48gold quality
tonsilUBERON:000237227.05gold quality
corpus callosumUBERON:000233626.61gold quality
islet of LangerhansUBERON:000000626.55gold quality
bloodUBERON:000017826.50gold quality
vermiform appendixUBERON:000115426.42gold quality
fallopian tubeUBERON:000388926.12gold quality
gall bladderUBERON:000211025.98gold quality
olfactory segment of nasal mucosaUBERON:000538625.89gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
mus_musculusOr5v1bENSMUSG00000090675
mus_musculusOr5v1ENSMUSG00000090894
rattus_norvegicusOr5v1bENSRNOG00000000759
rattus_norvegicusOr5v1bENSRNOG00000065028

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Olfactory receptor 5V1 — Q9UGF6 (reviewed: Q9UGF6)

Alternative names: Hs6M1-21, Olfactory receptor OR6-26

All UniProt accessions (2): Q9UGF6, A0A126GV99

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_110503* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000276GPCR_RhodpsnFamily
IPR000725Olfact_rcptFamily
IPR017452GPCR_Rhodpsn_7TMDomain
IPR050516Olfactory_GPCRFamily

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 3, sequence conflict 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UGF6-F185.390.51

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

IDPathway
R-HSA-9752946Expression and translocation of olfactory receptors

MSigDB gene sets: 28 (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, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_C, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, PAX3_TARGET_GENES, WP_GPCRS_CLASS_A_RHODOPSINLIKE, REACTOME_OLFACTORY_SIGNALING_PATHWAY, NAKAYA_PLASMACYTOID_DENDRITIC_CELL_FLUMIST_AGE_18_50YO_7DY_DN

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

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:

CategoryPathways
Olfactory Signaling Pathway1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transmembrane signaling receptor activity2
sensory perception of smell1
detection of chemical stimulus involved in sensory perception1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
G protein-coupled receptor activity1
signal transduction1
sensory perception of chemical stimulus1
G protein-coupled receptor signaling pathway1
detection of chemical stimulus involved in sensory perception of smell1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

266 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
OR5V1VN1R4Q7Z5H5448
OR5V1VN1R2Q8NFZ6419
OR5V1VN1R1Q9GZP7418
OR5V1LSM8O95777370
OR5V1ZNF311Q5JNZ3370
OR5V1TAS2R14Q9NYV8357
OR5V1TMEM185BQ9H7F4349
OR5V1TAS2R13Q9NYV9328
OR5V1TRIM58Q8NG06323
OR5V1PGAP3Q96FM1320
OR5V1MCCD1P59942313
OR5V1CDC14CA4D256313
OR5V1TRIM10Q9UDY6312
OR5V1ZKSCAN8Q15776311
OR5V1SFTA2Q6UW10305
OR5V1CNGA4Q8IV77305

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, P0C604, P0C623, P0C645, P0DN82, P58180, P58182, Q15615, Q60881, Q6IF82, Q8IXE1, Q8N0Y3, Q8NGA8, Q8NGB4, Q8NGB6, Q8NGC2, Q8NGC3, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD5, Q8NGE8, Q8NGF4, Q8NGF8, Q8NGF9, Q8NGI4, Q8NGI6, Q8NGJ0, Q8NGJ1, Q8NGL6, Q8NGM1, Q8NGN0, Q8NGN8, Q8NGX5, Q8NH05, Q8NH42, Q8NH49

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance40
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1895 predictions. Top by Δscore:

VariantEffectΔscore
6:29426690:T:Adonor_gain0.9900
6:29431859:CGTA:Cdonor_loss0.9900
6:29431861:TAC:Tdonor_loss0.9900
6:29431862:ACCC:Adonor_loss0.9900
6:29426620:C:CAdonor_gain0.9800
6:29431862:A:ACdonor_gain0.9800
6:29431862:AC:Adonor_gain0.9800
6:29431863:C:CCdonor_gain0.9800
6:29431863:CC:Cdonor_gain0.9800
6:29356274:TGAC:Tacceptor_gain0.9700
6:29356274:TGACC:Tacceptor_loss0.9700
6:29356278:C:CGacceptor_loss0.9700
6:29393251:CA:Cdonor_gain0.9700
6:29427733:C:CCacceptor_gain0.9700
6:29393262:CAA:Cdonor_gain0.9600
6:29426632:AT:Adonor_gain0.9600
6:29431483:TTCC:Tdonor_gain0.9600
6:29356222:T:TCacceptor_gain0.9500
6:29356278:C:CCacceptor_gain0.9500
6:29426633:T:TAdonor_gain0.9500
6:29431857:AACGT:Adonor_loss0.9500
6:29431858:ACGT:Adonor_loss0.9500
6:29426614:G:Cdonor_gain0.9400
6:29426617:ACT:Adonor_gain0.9400
6:29426618:CTC:Cdonor_gain0.9400
6:29426618:CTCCT:Cdonor_gain0.9400
6:29426617:A:ACdonor_gain0.9300
6:29426618:C:CCdonor_gain0.9300
6:29427728:TAGAG:Tacceptor_gain0.9300
6:29360550:C:Adonor_gain0.9200

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000351547 (6:29367238 T>G), RS1000366286 (6:29366711 A>C), RS1001194361 (6:29360913 C>A,G,T), RS1001579327 (6:29366080 C>G), RS1001658590 (6:29355221 C>A,G,T), RS1002023837 (6:29360068 G>A,C,T), RS1002099381 (6:29354867 C>T), RS1002124381 (6:29360668 G>T), RS1002308121 (6:29368360 A>G), RS1002537875 (6:29368077 G>T), RS1002590120 (6:29357051 G>C,T), RS1002637853 (6:29368607 C>G), RS1002690883 (6:29356646 A>C), RS1002874347 (6:29364025 A>G), RS1003069673 (6:29356915 C>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

43 associations (top):

StudyTraitp-value
GCST002194_1Social communication problems3.000000e-07
GCST003518_61Daytime sleep phenotypes4.000000e-07
GCST004521_112Autism spectrum disorder or schizophrenia3.000000e-26
GCST004521_171Autism spectrum disorder or schizophrenia4.000000e-14
GCST004521_176Autism spectrum disorder or schizophrenia3.000000e-12
GCST004521_212Autism spectrum disorder or schizophrenia5.000000e-14
GCST004521_43Autism spectrum disorder or schizophrenia2.000000e-27
GCST004521_56Autism spectrum disorder or schizophrenia1.000000e-22
GCST004521_58Autism spectrum disorder or schizophrenia1.000000e-17
GCST004521_7Autism spectrum disorder or schizophrenia2.000000e-15
GCST004521_84Autism spectrum disorder or schizophrenia1.000000e-12
GCST004521_91Autism spectrum disorder or schizophrenia1.000000e-11
GCST006269_1098General cognitive ability7.000000e-11
GCST006269_515General cognitive ability5.000000e-15
GCST006436_3Triglyceride levels1.000000e-09
GCST008158_152Body mass index8.000000e-06
GCST008163_187Height1.000000e-07
GCST008916_89Asthma2.000000e-10
GCST008921_5Asthma and major depressive disorder4.000000e-10
GCST010142_16Fish- and plant-related diet2.000000e-10
GCST010142_19Fish- and plant-related diet4.000000e-10
GCST010142_34Fish- and plant-related diet7.000000e-09
GCST010142_35Fish- and plant-related diet8.000000e-09
GCST010142_42Fish- and plant-related diet1.000000e-08
GCST010142_7Fish- and plant-related diet3.000000e-12
GCST010702_75Subcortical volume (MOSTest)3.000000e-11
GCST010703_272Brain morphology (MOSTest)7.000000e-16
GCST012226_454Waist circumference adjusted for body mass index2.000000e-10
GCST012226_456Waist circumference adjusted for body mass index3.000000e-09
GCST012226_457Waist circumference adjusted for body mass index2.000000e-09

EFO canonical traits (10, from GWAS)

EFO IDTrait name
EFO:0005427social communication impairment
EFO:0007828daytime rest measurement
EFO:0004337intelligence
EFO:0004530triglyceride measurement
EFO:0004340body mass index
EFO:0008111diet measurement
EFO:0004346neuroimaging measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0008039BMI-adjusted hip circumference
EFO:0007788BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression1
Arsenicaffects methylation1
Benzo(a)pyreneincreases methylation, affects methylation1
Cadmiumdecreases expression, increases abundance1
Valproic Aciddecreases methylation1
Vitamin Edecreases expression1
Aflatoxin B1decreases methylation1
Asbestos, Crocidoliteaffects expression1
Cadmium Chloridedecreases expression, increases abundance1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot