OR5AU1

Summary

OR5AU1 (olfactory receptor family 5 subfamily AU member 1, HGNC:15362) is a protein-coding gene on chromosome 14q11.2, encoding Olfactory receptor 5AU1 (Q8NGC0). Odorant receptor.

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 390445 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 65 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001004731

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15362
Approved symbol	OR5AU1
Name	olfactory receptor family 5 subfamily AU member 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169327
Ensembl biotype	protein_coding
Entrez	390445

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000304418, ENST00000641039, ENST00000641697, ENST00000641822

RefSeq mRNA: 1 — MANE Select: NM_001004731 NM_001004731

CCDS: CCDS32042

Canonical transcript exons

ENST00000304418 — 1 exons

Exon	Start	End
ENSE00001123929	21154865	21156063

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 50.60.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	50.60	gold quality
stromal cell of endometrium	CL:0002255	47.25	gold quality
ganglionic eminence	UBERON:0004023	45.28	gold quality
ventricular zone	UBERON:0003053	43.15	gold quality
bone marrow	UBERON:0002371	42.91	gold quality
leukocyte	CL:0000738	42.90	gold quality
monocyte	CL:0000576	42.64	gold quality
colonic epithelium	UBERON:0000397	41.51	gold quality
lymph node	UBERON:0000029	41.23	gold quality
calcaneal tendon	UBERON:0003701	41.19	gold quality
blood	UBERON:0000178	41.18	silver quality
liver	UBERON:0002107	40.83	gold quality
gall bladder	UBERON:0002110	40.38	gold quality
skeletal muscle tissue	UBERON:0001134	40.28	gold quality
bone marrow cell	CL:0002092	40.22	gold quality
muscle tissue	UBERON:0002385	39.52	gold quality
granulocyte	CL:0000094	38.96	gold quality
endometrium	UBERON:0001295	38.75	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.70	gold quality
primary visual cortex	UBERON:0002436	38.19	gold quality
muscle of leg	UBERON:0001383	38.11	gold quality
lower esophagus mucosa	UBERON:0035834	38.08	gold quality
vermiform appendix	UBERON:0001154	37.83	gold quality
gastrocnemius	UBERON:0001388	37.75	gold quality
right lobe of liver	UBERON:0001114	37.12	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	36.33	silver quality
islet of Langerhans	UBERON:0000006	36.19	gold quality
heart left ventricle	UBERON:0002084	35.79	gold quality
heart	UBERON:0000948	35.57	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.32
E-MTAB-5061	no	1.88

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5au1	ENSMUSG00000044286
rattus_norvegicus	Or5au1	ENSRNOG00000080058

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), OR8K1 (ENSG00000150261), OR5M9 (ENSG00000150269), OR14K1 (ENSG00000153230), OR8J3 (ENSG00000167822), OR5I1 (ENSG00000167825), 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), OR5AN1 (ENSG00000176495), 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 5AU1 — Q8NGC0 (reviewed: Q8NGC0)

Alternative names: Olfactory receptor OR14-38

All UniProt accessions (3): A0A126GVW7, A0A286YF24, Q8NGC0

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

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

RefSeq proteins (1): NP_001004731* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGC0-F1	79.49	0.52

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): 148–230

Glycosylation sites (1): 56

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 19 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_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, BDP1_TARGET_GENES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS

GO Biological Process (4): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), detection of chemical stimulus involved in sensory perception of smell (GO:0050911)

GO Molecular Function (3): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549)

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
transmembrane signaling receptor activity	2
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 chemical stimulus	1
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

98 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5AU1	TRIQK	Q629K1	570
OR5AU1	C9JE84	C9JE84	478
OR5AU1	SERTM1	A2A2V5	445
OR5AU1	CNGA2	Q16280	389
OR5AU1	TOX4	O94842	381
OR5AU1	GNG8	Q9UK08	371
OR5AU1	COPRS	Q9NQ92	370
OR5AU1	RNF212B	A8MTL3	369
OR5AU1	GNG13	Q9P2W3	349
OR5AU1	ANO2	Q9NQ90	329
OR5AU1	CCNB1IP1	Q9NPC3	325
OR5AU1	GNAL	P38405	323
OR5AU1	RAPGEF5	Q92565	318
OR5AU1	CELA1	Q9UNI1	307
OR5AU1	FMN1	Q68DA7	292

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6ND48, A6NFC9, B2RN74, O43869, O60412, O60431, P23265, P31388, P34987, P47883, P47884, P47887, P58170, Q0VAX9, Q5JRS4, Q60894, Q6IFN5, Q7Z3T1, Q8NG78, Q8NG84, Q8NG94, Q8NG99, Q8NGC0, Q8NGC1, Q8NGC5, Q8NGE7, Q8NGG2, Q8NGG3, Q8NGN1, Q8NGN2, Q8NGR1, Q8NGR2, Q8NGR6, Q8NGT2, Q8NGW1, Q8NGW6, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

288 predictions. Top by Δscore:

Variant	Effect	Δscore
14:21155264:A:T	acceptor_gain	0.8100
14:21155167:TAA:T	donor_gain	0.7400
14:21155168:AAA:A	donor_gain	0.7400
14:21155645:C:CT	acceptor_gain	0.7100
14:21155257:TGAA:T	donor_gain	0.7000
14:21155166:TTAA:T	donor_gain	0.6800
14:21155263:C:CT	acceptor_gain	0.6600
14:21155202:G:GC	acceptor_gain	0.6400
14:21155288:A:AC	donor_gain	0.6300
14:21155289:C:CC	donor_gain	0.6300
14:21155289:CA:C	donor_gain	0.6300
14:21155988:A:AC	donor_gain	0.6200
14:21155100:A:C	acceptor_gain	0.6000
14:21155417:T:TA	donor_gain	0.6000
14:21155169:A:AT	donor_gain	0.5800
14:21155174:G:A	donor_gain	0.5800
14:21155212:T:TC	acceptor_gain	0.5800
14:21155605:T:A	donor_gain	0.5800
14:21155358:TGAGC:T	donor_gain	0.5600
14:21155190:A:AC	donor_gain	0.5500
14:21155061:T:TA	donor_gain	0.5400
14:21154985:AT:A	donor_gain	0.5200
14:21155256:TTGAA:T	donor_gain	0.5200
14:21155202:G:C	acceptor_gain	0.5100
14:21155205:T:TC	acceptor_gain	0.5100
14:21155333:A:AC	donor_gain	0.5100
14:21155028:A:AC	donor_gain	0.5000
14:21155175:C:A	donor_gain	0.5000
14:21155205:T:C	acceptor_gain	0.4900
14:21155968:G:GA	donor_gain	0.4900

AlphaMissense

2043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:21155246:G:C	S260R	0.860
14:21155246:G:T	S260R	0.860
14:21155248:T:G	S260R	0.860
14:21155543:A:C	S161R	0.830
14:21155543:A:T	S161R	0.830
14:21155545:T:G	S161R	0.830
14:21155369:G:C	F219L	0.793
14:21155369:G:T	F219L	0.793
14:21155371:A:G	F219L	0.793
14:21155342:G:C	F228L	0.780
14:21155342:G:T	F228L	0.780
14:21155344:A:G	F228L	0.780
14:21155837:A:C	F63L	0.779
14:21155837:A:T	F63L	0.779
14:21155839:A:G	F63L	0.779
14:21155339:G:C	F229L	0.773
14:21155339:G:T	F229L	0.773
14:21155341:A:G	F229L	0.773
14:21155381:A:C	F215L	0.762
14:21155381:A:T	F215L	0.762
14:21155383:A:G	F215L	0.762
14:21155780:G:C	F82L	0.760
14:21155780:G:T	F82L	0.760
14:21155782:A:G	F82L	0.760
14:21155567:G:C	F153L	0.749
14:21155567:G:T	F153L	0.749
14:21155569:A:G	F153L	0.749
14:21155117:A:C	F303L	0.703
14:21155117:A:T	F303L	0.703
14:21155119:A:G	F303L	0.703

dbSNP variants (sampled 300 via entrez): RS1000805546 (14:21156490 G>A), RS1002573086 (14:21154402 TTCTCCCTA>T), RS1002846021 (14:21154640 G>A), RS1004390612 (14:21156189 T>C), RS1007396246 (14:21158048 C>T), RS1008887811 (14:21156516 G>T), RS1009895228 (14:21157872 G>A), RS1011808893 (14:21156411 C>A), RS1012592960 (14:21155424 C>T), RS1013182132 (14:21156423 A>G), RS10135366 (14:21156038 T>A,C), RS1013718611 (14:21156722 C>A), RS10138338 (14:21156769 T>C,G), RS10138553 (14:21156995 T>C), RS1013891321 (14:21154642 A>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008103_155	Bipolar disorder	6.000000e-06
GCST010307_11	Urinary albumin excretion	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004285	albuminuria

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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