OR5AN1 (olfactory receptor family 5 subfamily AN member 1)

Gene

• Entrez ID: 390195
• Gene name: Olfactory receptor family 5 subfamily AN member 1
• Gene symbol: OR5AN1
• Synonyms (NCBI Gene): OR11-244
• Chromosome: 11
• Chromosome location: 11q12.1
• 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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001594	Function	Trace-amine receptor activity	IDA	25901328, 27098692
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004984	Function	Olfactory receptor activity	IBA
GO:0004984	Function	Olfactory receptor activity	IDA	25901328, 27098692
GO:0004984	Function	Olfactory receptor activity	IEA
GO:0005549	Function	Odorant binding	IBA
GO:0005549	Function	Odorant binding	IDA	25901328
GO:0005886	Component	Plasma membrane	IDA	25901328
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007608	Process	Sensory perception of smell	IDA	25901328, 27098692
GO:0007608	Process	Sensory perception of smell	IEA
GO:0016020	Component	Membrane	IDA	25901328
GO:0016020	Component	Membrane	IEA
GO:0050907	Process	Detection of chemical stimulus involved in sensory perception	IDA	25901328
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA

Other IDs

• MIM: 615702
• HGNC: 15255
• e!Ensembl: ENSG00000176495

Protein

• UniProt ID: Q8NGI8
• Protein name: Olfactory receptor 5AN1 (Olfactory receptor OR11-244)
• Protein function: Odorant receptor for musk, which specifically recognizes muscone, musk xylol, and musk ketone (PubMed:24361078, PubMed:25901328, PubMed:27098692). Ligand-binding causes a conformation change that triggers signaling via G(s)-class of G alpha prot
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13853	7tm_4	32 → 309	Olfactory receptor	Family

• Sequence:

  MTGGGNITEITYFILLGFSDFPRIIKVLFTIFLVIYITSLAWNLSLIVLIRMDSHLHTPM
  YFFLSNLSFIDVCYISSTVPKMLSNLLQEQQTITFVGCIIQYFIFSTMGLSESCLMTAMA
  YDRYAAICNPLLYSSIMSPTLCVWMVLGAYMTGLTASLFQIGALLQLHFCGSNVIRHFFC
  DMPQLLILSCTDTFFVQVMTAILTMFFGIASALVIMISYGYIGISIMKITSAKGRSKAFN
  TCASHLTAVSLFYTSGIFVYLSSSSGGSSSFDRFASVFYTVVIPMLNPLIYSLRNKEIKD
  ALKRLQKRKCC

• Sequence length: 311

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
DERMATOMYCOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations