OR51Q1 (olfactory receptor family 51 subfamily Q member 1)

Gene

• Entrez ID: 390061
• Gene name: Olfactory receptor family 51 subfamily Q member 1
• Gene symbol: OR51Q1
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11p15.4
• 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003008	Process	System process	IEA
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:0038023	Function	Signaling receptor activity	IEA
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA
GO:0071396	Process	Cellular response to lipid	IEA

Other IDs

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

Protein

• UniProt ID: Q8NH59
• Protein name: Olfactory receptor 51Q1
• Protein function: Odorant receptor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13853	7tm_4	33 → 312	Olfactory receptor	Family

• Sequence:

  MSQVTNTTQEGIYFILTDIPGFEASHIWISIPVCCLYTISIMGNTTILTVIRTEPSVHQR
  MYLFLSMLALTDLGLTLTTLPTVMQLLWFNVRRISSEACFAQFFFLHGFSFMESSVLLAM
  SVDCYVAICCPLHYASILTNEVIGRTGLAIICCCVLAVLPSLFLLKRLPFCHSHLLSRSY
  CLHQDMIRLVCADIRLNSWYGFALALLIIIVDPLLIVISYTLILKNILGTATWAERLRAL
  NNCLSHILAVLVLYIPMVGVSMTHRFAKHASPLVHVIMANIYLLAPPVMNPIIYSVKNKQ
  IQWGMLNFLSLKNMHSR

• Sequence length: 317

Pathways

KEGG:

Olfactory transduction

Reactome:

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CUTANEOUS MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34573430	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Cutaneous	Mastocytosis	Pubtator	32752121	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	32752121	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only