OR5AN1

Summary

OR5AN1 (olfactory receptor family 5 subfamily AN member 1, HGNC:15255) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5AN1 (Q8NGI8). Odorant receptor for musk, which specifically recognizes muscone, musk xylol, and musk ketone.

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 390195 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001004729

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15255
Approved symbol	OR5AN1
Name	olfactory receptor family 5 subfamily AN member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000176495
Ensembl biotype	protein_coding
OMIM	615702
Entrez	390195

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000313940, ENST00000641850, ENST00000641998

RefSeq mRNA: 1 — MANE Select: NM_001004729 NM_001004729

CCDS: CCDS31559

Canonical transcript exons

ENST00000641998 — 2 exons

Exon	Start	End
ENSE00003812408	59358895	59359272
ENSE00003814011	59364446	59371714

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 71.51.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.51	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	55.17	silver quality
sural nerve	UBERON:0015488	48.54	gold quality
ventricular zone	UBERON:0003053	43.15	gold quality
bone marrow	UBERON:0002371	41.60	gold quality
monocyte	CL:0000576	40.73	gold quality
calcaneal tendon	UBERON:0003701	40.44	gold quality
leukocyte	CL:0000738	40.02	gold quality
bone marrow cell	CL:0002092	40.02	gold quality
cortical plate	UBERON:0005343	39.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.45	gold quality
smooth muscle tissue	UBERON:0001135	38.17	gold quality
liver	UBERON:0002107	37.61	gold quality
placenta	UBERON:0001987	37.60	silver quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.14	gold quality
endometrium	UBERON:0001295	37.09	gold quality
lymph node	UBERON:0000029	36.89	gold quality
duodenum	UBERON:0002114	36.56	gold quality
blood	UBERON:0000178	36.32	gold quality
muscle tissue	UBERON:0002385	35.51	gold quality
primary visual cortex	UBERON:0002436	35.40	gold quality
corpus callosum	UBERON:0002336	35.25	gold quality
adrenal tissue	UBERON:0018303	35.20	gold quality
prefrontal cortex	UBERON:0000451	34.79	gold quality
apex of heart	UBERON:0002098	34.51	gold quality
granulocyte	CL:0000094	34.09	gold quality
cortex of kidney	UBERON:0001225	33.96	gold quality
kidney	UBERON:0002113	33.95	gold quality
pancreas	UBERON:0001264	33.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.75

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• This study identifed that OR5AN1 was a specific muscone receptor expressed by neurons innervating the muscone-responsive anteromedial glomeruli. (PMID:24361078)
• OR5AN1 is an odorant receptor that responds to macrocyclic ketone and lactone musk odor molecules such as exaltone and muscone, and is the ortholog of mouse odorant receptors responsive to muscone. (PMID:25411495)
• Molecular mechanism of activation of human musk receptors OR5AN1 and OR1A1 by (R)-muscone and diverse other musk-smelling compounds. (PMID:29632183)
• Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis. (PMID:34389381)
• Genetic variation in the human olfactory receptor OR5AN1 associates with the perception of musks. (PMID:36625229)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5an11	ENSMUSG00000060049
mus_musculus	Or5an10	ENSMUSG00000067513
mus_musculus	Or5an1c	ENSMUSG00000067519
mus_musculus	Or5an9	ENSMUSG00000094133
mus_musculus	Or5an1	ENSMUSG00000095640
mus_musculus	Or5an1b	ENSMUSG00000096436
rattus_norvegicus	Or5an9	ENSRNOG00000068810
rattus_norvegicus	Or5an10	ENSRNOG00000071832
rattus_norvegicus	Or5an1b	ENSRNOG00000072962
rattus_norvegicus	Olr387	ENSRNOG00000080276
rattus_norvegicus	Or5an1	ENSRNOG00000082980

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), OR5AU1 (ENSG00000169327), OR9K2 (ENSG00000170605), OR8B12 (ENSG00000170953), OR10H3 (ENSG00000171936), OR8I2 (ENSG00000172154), OR8U1 (ENSG00000172199), OR10V1 (ENSG00000172289), OR5A1 (ENSG00000172320), OR5A2 (ENSG00000172324), OR5B12 (ENSG00000172362), OR5B2 (ENSG00000172365), OR9I1 (ENSG00000172377), OR9G4 (ENSG00000172457), OR5AR1 (ENSG00000172459), OR5AP2 (ENSG00000172464), OR8J1 (ENSG00000172487), OR5B3 (ENSG00000172769), OR10W1 (ENSG00000172772), OR5M3 (ENSG00000174937), OR5J2 (ENSG00000174957), OR10H4 (ENSG00000176231), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5AN1 — Q8NGI8 (reviewed: Q8NGI8)

Alternative names: Olfactory receptor OR11-244

All UniProt accessions (2): A0A126GVP9, Q8NGI8

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor for musk, which specifically recognizes muscone, musk xylol, and musk ketone. Ligand-binding causes a conformation change that triggers signaling via G(s)-class of G alpha protein GNAL, activating adenylyl cyclase.

Subcellular location. Cell membrane.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_001004729* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	Family

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGI8-F1	89.51	0.63

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): 98–190

Glycosylation sites (1): 6

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 22 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_ADENYLATE_CYCLASE_ACTIVATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_G_PROTEIN_COUPLED_AMINE_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, GOMF_ODORANT_BINDING, GOMF_G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, BOSCO_ALLERGEN_INDUCED_TH2_ASSOCIATED_MODULE

GO Biological Process (6): adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception (GO:0050907), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (4): trace-amine receptor activity (GO:0001594), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549), G protein-coupled receptor activity (GO:0004930)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Olfactory Signaling Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of chemical stimulus	2
transmembrane signaling receptor activity	2
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
sensory perception	1
detection of chemical stimulus	1
detection of stimulus involved in sensory perception	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
G protein-coupled amine receptor activity	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
G protein-coupled receptor signaling pathway	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5AN1	PINLYP	A6NC86	476
OR5AN1	RTP1	P59025	453
OR5AN1	TAAR5	O14804	415
OR5AN1	TNP2	Q05952	397
OR5AN1	SYNE1	Q8NF91	362
OR5AN1	PLAUR	Q03405	353
OR5AN1	CNGA2	Q16280	343
OR5AN1	GNG8	Q9UK08	316
OR5AN1	GNG13	Q9P2W3	297
OR5AN1	ANO2	Q9NQ90	284
OR5AN1	GNAL	P38405	278
OR5AN1	GNGT2	O14610	244
OR5AN1	ADCY3	O60266	238
OR5AN1	MS4A8	Q9BY19	234
OR5AN1	CHRM1	P11229	233

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

284 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59364723:G:GT	donor_gain	0.9600
11:59364611:G:GT	donor_gain	0.9400
11:59364724:A:T	donor_gain	0.9200
11:59364749:T:TA	donor_gain	0.8800
11:59364527:GATCA:G	donor_gain	0.8000
11:59364750:T:TA	donor_gain	0.7600
11:59364561:A:AG	donor_gain	0.7300
11:59364783:GGAC:G	donor_gain	0.7000
11:59364468:G:T	donor_gain	0.6700
11:59364468:G:GT	donor_gain	0.6600
11:59364637:T:G	donor_gain	0.6600
11:59364784:GAC:G	donor_gain	0.6200
11:59364972:TCTA:T	donor_gain	0.6200
11:59364652:G:GG	donor_gain	0.6100
11:59364790:G:GG	donor_gain	0.6100
11:59364606:A:AG	donor_gain	0.6000
11:59364751:G:GG	donor_gain	0.5700
11:59364947:T:G	donor_gain	0.5700
11:59364536:A:AG	donor_gain	0.5600
11:59364537:G:GG	donor_gain	0.5600
11:59364562:T:G	donor_gain	0.5600
11:59364760:A:AG	donor_gain	0.5600
11:59364761:G:GG	donor_gain	0.5600
11:59365044:GTACA:G	acceptor_loss	0.5600
11:59365046:ACAG:A	acceptor_loss	0.5600
11:59365047:CA:C	acceptor_loss	0.5600
11:59365048:A:G	acceptor_loss	0.5600
11:59365049:G:A	acceptor_loss	0.5600
11:59365332:A:AG	acceptor_gain	0.5600
11:59365333:G:GG	acceptor_gain	0.5600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000165102 (11:59357833 C>A), RS1000508182 (11:59359425 A>G), RS1000598294 (11:59364601 T>C), RS1000731335 (11:59371797 C>G,T), RS1000881783 (11:59360801 A>G), RS1001458058 (11:59370366 C>G,T), RS1001570784 (11:59365834 G>A), RS1001621510 (11:59366131 T>G), RS1001668387 (11:59370945 A>G), RS1001675254 (11:59366419 G>A,C), RS1001712777 (11:59360166 G>T), RS1001816832 (11:59365559 A>G), RS1001835411 (11:59361124 A>C,T), RS1001993244 (11:59371205 C>T), RS1002081392 (11:59360512 C>A,T)

Disease associations

OMIM: gene MIM:615702 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Cadmium	decreases expression	1

Clinical trials (associated diseases)

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