OR4D1 (olfactory receptor family 4 subfamily D member 1)

Gene

• Entrez ID: 26689
• Gene name: Olfactory receptor family 4 subfamily D member 1
• Gene symbol: OR4D1
• Synonyms (NCBI Gene): OR17-23, OR4D3, OR4D4P, TPCR16
• Chromosome: 17
• Chromosome location: 17q22
• 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:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004984	Function	Olfactory receptor activity	IBA
GO:0004984	Function	Olfactory receptor activity	IEA
GO:0004984	Function	Olfactory receptor activity	NAS	9119360
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:0007608	Process	Sensory perception of smell	NAS	9119360
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9119360
GO:0050911	Process	Detection of chemical stimulus involved in sensory perception of smell	IEA

Other IDs

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

Protein

• UniProt ID: Q15615
• Protein name: Olfactory receptor 4D1 (Olfactory receptor 4D3) (Olfactory receptor TPCR16)
• Protein function: Odorant receptor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13853	7tm_4	31 → 303	Olfactory receptor	Family

• Sequence:

  MEPQNTTQVSMFVLLGFSQTQELQKFLFLLFLLVYVTTIVGNLLIMVTVTFDCRLHTPMY
  FLLRNLALIDLCYSTVTSPKMLVDFLHETKTISYQGCMAQIFFFHLLGGGTVFFLSVMAY
  DRYIAISQPLRYVTIMNTQLCVGLVVAAWVGGFVHSIVQLALILPLPFCGPNILDNFYCD
  VPQVLRLACTDTSLLEFLMISNSGLLVIIWFLLLLISYTVILVMLRSHSGKARRKAASTC
  TTHIIVVSMIFIPCIYIYTWPFTPFLMDKAVSISYTVMTPMLNPMIYTLRNQDMKAAMRR
  LGKCLVICRE

• Sequence length: 310

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
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations