OR5V1 (olfactory receptor family 5 subfamily V member 1)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 81696
• Gene name: Olfactory receptor family 5 subfamily V member 1
• Gene symbol: OR5V1
• Synonyms (NCBI Gene): 6M1-21, hs6M1-21
• Chromosome: 6
• Chromosome location: 6p22.1
• Summary: 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 sing

Gene ontology (GO) Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004984	Function	Olfactory receptor activity	IBA
GO:0004984	Function	Olfactory receptor activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0016020	Component	Membrane	IEA
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IBA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9UGF6
• Protein name: Olfactory receptor 5V1 (Hs6M1-21) (Olfactory receptor OR6-26)
• Protein function: Odorant receptor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13853	7tm_4	31 → 307	Olfactory receptor	Family

• Sequence:

  MERKNQTAITEFIILGFSNLNELQFLLFTIFFLTYFCTLGGNILIILTTVTDPHLHTPMY
  YFLGNLAFIDICYTTSNVPQMMVHLLSKKKSISYVGCVVQLFAFVFFVGSECLLLAAMAY
  DRYIAICNPLRYSVILSKVLCNQLAASCWAAGFLNSVVHTVLTFCLPFCGNNQINYFFCD
  IPPLLILSCGNTSVNELALLSTGVFIGWTPFLCIVLSYICIISTILRIQSSEGRRKAFST
  CASHLAIVFLFYGSAIFTYVRPISTYSLKKDRLVSVLYSVVTPMLNPIIYTLRNKDIKEA
  VKTIGSKWQPPISSLDSKLTY

• Sequence length: 321

Pathways

KEGG Pathway:

Olfactory transduction

Reactome Pathway:

Olfactory Signaling Pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (28)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	35589863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	25918132	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	35764056	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026, 35215271, 35764056	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	22961001, 27527254	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	39620209	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	33909500	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	39192244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	37106081	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	36627639	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	27527254	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	31488892	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	31578528	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34045744, 34634379, 36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	36808568	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	32887889	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	34290314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	39885523	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	23393555	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	37377963, 39620209	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	26651848	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	28540026, 30285260, 32606422, 36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	37377963	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	27527254		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	GWASDB_DG	22961001		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	22961001, 27527254		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	22899653		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26651848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RBM6 3 shared diseasesAnorexia nervosa, Dental caries, Diabetes mellitus 3 shared evidence sourcesGWAS catalog (Anorexia nervosa), GWAS catalog (Dental caries), GWAS catalog (Diabetes mellitus) Related via 3 shared diseases including Anorexia nervosa, Dental caries — evidence mostly GWAS catalog. ARL15 3 shared diseasesBarrett esophagus, Diabetes mellitus, Esophageal adenocarcinoma 3 shared evidence sourcesGWAS catalog (Barrett esophagus), GWAS catalog (Diabetes mellitus), GWAS catalog (Esophageal adenocarcinoma) Related via 3 shared diseases including Barrett esophagus, Diabetes mellitus — evidence mostly GWAS catalog. MTNR1B 3 shared diseasesDental caries, Diabetes mellitus, Diabetic neuropathy 3 shared evidence sourcesGWAS catalog (Dental caries), GWAS catalog (Diabetes mellitus), GWAS catalog (Diabetic neuropathy) Related via 3 shared diseases including Dental caries, Diabetes mellitus — evidence mostly GWAS catalog. PROX1 3 shared diseasesDiabetes mellitus, Diabetic neuropathy, Female infertility 3 shared evidence sourcesGWAS catalog (Diabetes mellitus), GWAS catalog (Diabetic neuropathy), GWAS catalog (Female infertility) Related via 3 shared diseases including Diabetes mellitus, Diabetic neuropathy — evidence mostly GWAS catalog. HLA-DQB3 5 shared diseasesInterstitial cystitis, Diabetes mellitus, Non-hodgkins lymphoma, Non-melanoma skin carcinoma, Sarcoidosis 5 shared evidence sourcesGWAS catalog (Interstitial cystitis), GWAS catalog (Diabetes mellitus), GWAS catalog (Non-hodgkins lymphoma), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Sarcoidosis) Related via 5 shared diseases including Interstitial cystitis, Diabetes mellitus — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RBM6	3	["Anorexia nervosa","Dental caries","Diabetes mellitus"]	0	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Dental caries)","GWAS catalog (Diabetes mellitus)"]
ARL15	3	["Barrett esophagus","Diabetes mellitus","Esophageal adenocarcinoma"]	0	[]	3	["GWAS catalog (Barrett esophagus)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Esophageal adenocarcinoma)"]
MTNR1B	3	["Dental caries","Diabetes mellitus","Diabetic neuropathy"]	0	[]	3	["GWAS catalog (Dental caries)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Diabetic neuropathy)"]
PROX1	3	["Diabetes mellitus","Diabetic neuropathy","Female infertility"]	0	[]	3	["GWAS catalog (Diabetes mellitus)","GWAS catalog (Diabetic neuropathy)","GWAS catalog (Female infertility)"]
HLA-DQB3	5	["Interstitial cystitis","Diabetes mellitus","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Sarcoidosis"]	0	[]	5	["GWAS catalog (Interstitial cystitis)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Sarcoidosis)"]

Diseases Linked via Similar Genes

Metabolic syndrome Linked via 3 of 5 related genesRBM6, ARL15, MTNR1B Basal cell carcinoma Linked via 2 of 5 related genesRBM6, HLA-DQB3 Gastroesophageal reflux disease Linked via 2 of 5 related genesRBM6, HLA-DQB3 Kidney disease Linked via 2 of 5 related genesARL15, HLA-DQB3 Gestational diabetes Linked via 2 of 5 related genesMTNR1B, HLA-DQB3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Metabolic syndrome	3	["RBM6","ARL15","MTNR1B"]
Basal cell carcinoma	2	["RBM6","HLA-DQB3"]
Gastroesophageal reflux disease	2	["RBM6","HLA-DQB3"]
Kidney disease	2	["ARL15","HLA-DQB3"]
Gestational diabetes	2	["MTNR1B","HLA-DQB3"]