OR5AS1

Summary

OR5AS1 (olfactory receptor family 5 subfamily AS member 1, HGNC:15261) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 5AS1 (Q8N127). 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 219447 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_001001921

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15261
Approved symbol	OR5AS1
Name	olfactory receptor family 5 subfamily AS member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000181785
Ensembl biotype	protein_coding
Entrez	219447

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641320

RefSeq mRNA: 1 — MANE Select: NM_001001921 NM_001001921

CCDS: CCDS31516

Canonical transcript exons

ENST00000641320 — 2 exons

Exon	Start	End
ENSE00003811637	56027654	56027712
ENSE00003814237	56030391	56038191

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 77.72.

Top tissues by expression

131 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	77.72	silver quality
bone marrow cell	CL:0002092	47.81	gold quality
sural nerve	UBERON:0015488	47.59	gold quality
cortical plate	UBERON:0005343	46.44	gold quality
colonic epithelium	UBERON:0000397	44.74	gold quality
bone marrow	UBERON:0002371	44.11	gold quality
skeletal muscle tissue	UBERON:0001134	43.08	gold quality
muscle tissue	UBERON:0002385	41.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	41.41	gold quality
ventricular zone	UBERON:0003053	39.79	gold quality
calcaneal tendon	UBERON:0003701	39.34	gold quality
ganglionic eminence	UBERON:0004023	38.83	gold quality
stromal cell of endometrium	CL:0002255	38.63	gold quality
superior frontal gyrus	UBERON:0002661	37.45	gold quality
liver	UBERON:0002107	36.85	gold quality
tonsil	UBERON:0002372	36.80	gold quality
monocyte	CL:0000576	35.45	gold quality
primary visual cortex	UBERON:0002436	35.36	gold quality
leukocyte	CL:0000738	35.23	gold quality
blood	UBERON:0000178	35.06	gold quality
cortex of kidney	UBERON:0001225	33.84	gold quality
mucosa of transverse colon	UBERON:0004991	33.70	gold quality
urinary bladder	UBERON:0001255	33.61	gold quality
kidney	UBERON:0002113	33.60	gold quality
uterine cervix	UBERON:0000002	33.46	gold quality
prefrontal cortex	UBERON:0000451	33.41	gold quality
adrenal tissue	UBERON:0018303	33.25	gold quality
right coronary artery	UBERON:0001625	33.20	gold quality
smooth muscle tissue	UBERON:0001135	32.54	gold quality
placenta	UBERON:0001987	32.34	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-6	yes	3821.56
E-GEOD-81547	yes	217.00
E-MTAB-5061	yes	15.70
E-ANND-3	yes	5.40
E-MTAB-6678	no	1265.57

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5as1	ENSMUSG00000075158
rattus_norvegicus	Or5as1	ENSRNOG00000031356

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), OR5AN1 (ENSG00000176495), OR14C36 (ENSG00000177174), OR6B3 (ENSG00000178586), OR10Q1 (ENSG00000180475), OR8G2P (ENSG00000181214), OR5AK2 (ENSG00000181273), OR5AK3P (ENSG00000181282), OR5M8 (ENSG00000181371), OR8D4 (ENSG00000181518), OR8H1 (ENSG00000181693), OR8K5 (ENSG00000181752), OR8H3 (ENSG00000181761)

Protein

Protein identifiers

Olfactory receptor 5AS1 — Q8N127 (reviewed: Q8N127)

Alternative names: Olfactory receptor OR11-168

All UniProt accessions (2): A0A126GVD4, Q8N127

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_001001921* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (20 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N127-F1	87.98	0.61

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): 97–189

Glycosylation sites (1): 5

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, RAO_BOUND_BY_SALL4_ISOFORM_A, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, ZHANG_FH_DEFICIENT_RCC_C2_VS_OTHERS_UP

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 (4): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549), protein binding (GO:0005515)

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
binding	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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

264 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5AS1	LCE4A	Q5TA78	447
OR5AS1	TRIM48	Q8IWZ4	436
OR5AS1	TRIM51	Q9BSJ1	419
OR5AS1	ZNF737	O75373	315
OR5AS1	KRTAP9-1	A8MXZ3	301
OR5AS1	PTCRA	Q6ISU1	295
OR5AS1	COL7A1	Q02388	248
OR5AS1	CFAP47	Q6ZTR5	248
OR5AS1	CD72	P21854	247
OR5AS1	KRTAP9-2	Q9BYQ4	247
OR5AS1	POTEM	A6NI47	247
OR5AS1	DNAJC18	Q9H819	239
OR5AS1	VWA3B	Q502W6	232
OR5AS1	HOXC11	O43248	231
OR5AS1	FAM110C	Q1W6H9	222

IntAct

4 interactions, top by confidence:

A	B	Type	Score
UBTFL1	OR5AS1	psi-mi:“MI:0915”(physical association)	0.560
UBTFL1	OR5AS1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (1): UBTFL1 (Two-hybrid)

ESM2 similar proteins: A6NCV1, A6NF89, A6NJZ3, A6NL08, A6NM76, O95221, P0C7N1, P0C7N5, P37070, P37071, P37072, Q15617, Q60886, Q6IEU7, Q8N127, Q8NGE1, Q8NGG0, Q8NGG8, Q8NGP8, Q8NGP9, Q8NGR8, Q8NGS9, Q8NGT0, Q8NGT1, Q8NGX3, Q8NH01, Q8NH10, Q8NH51, Q8NH69, Q8VEW5, Q8VF65, Q8VF66, Q8VF76, Q8VFD0, Q8VFD3, Q8VFK2, Q8VG02, Q8VG03, Q8VG04, Q8VG07

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

378 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56030742:T:A	acceptor_gain	0.8300
11:56030625:A:AG	acceptor_gain	0.7700
11:56030626:G:GG	acceptor_gain	0.7700
11:56030747:C:G	donor_gain	0.7200
11:56030833:A:T	donor_gain	0.6700
11:56030705:G:GT	donor_gain	0.6600
11:56030429:G:GG	donor_gain	0.6500
11:56030447:C:CG	donor_gain	0.6400
11:56030747:CTG:C	acceptor_gain	0.6300
11:56030427:GA:G	donor_gain	0.6100
11:56030428:A:AG	donor_gain	0.6000
11:56030537:TCGG:T	donor_gain	0.5900
11:56030957:A:AG	donor_gain	0.5800
11:56031052:GTG:G	donor_gain	0.5800
11:56031054:G:GA	donor_gain	0.5800
11:56030685:G:GT	donor_gain	0.5700
11:56030891:TCC:T	donor_gain	0.5700
11:56030433:T:G	donor_gain	0.5600
11:56030624:TAGA:T	acceptor_gain	0.5600
11:56030426:A:T	donor_gain	0.5500
11:56030447:C:G	donor_gain	0.5500
11:56030739:T:TA	acceptor_gain	0.5500
11:56030831:GGAGA:G	donor_gain	0.5500
11:56030832:GAGAG:G	donor_gain	0.5500
11:56030955:T:TA	acceptor_gain	0.5500
11:56030745:TGCTG:T	acceptor_gain	0.5400
11:56030749:G:GC	acceptor_gain	0.5400
11:56030608:A:AG	acceptor_gain	0.5300
11:56030609:G:GG	acceptor_gain	0.5300
11:56030988:A:AG	acceptor_gain	0.5300

AlphaMissense

2126 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56030452:T:C	F12L	0.874
11:56030454:C:A	F12L	0.874
11:56030454:C:G	F12L	0.874
11:56030920:T:C	F168L	0.853
11:56030922:T:A	F168L	0.853
11:56030922:T:G	F168L	0.853
11:56031289:A:C	S291R	0.847
11:56031291:T:A	S291R	0.847
11:56031291:T:G	S291R	0.847
11:56030950:T:C	F178L	0.846
11:56030952:C:A	F178L	0.846
11:56030952:C:G	F178L	0.846
11:56030947:T:C	F177L	0.845
11:56030949:T:A	F177L	0.845
11:56030949:T:G	F177L	0.845
11:56030783:G:C	R122P	0.821
11:56030908:T:C	F164L	0.819
11:56030910:C:A	F164L	0.819
11:56030910:C:G	F164L	0.819
11:56031043:A:C	S209R	0.806
11:56031045:C:A	S209R	0.806
11:56031045:C:G	S209R	0.806
11:56030500:T:C	F28L	0.796
11:56030502:C:A	F28L	0.796
11:56030502:C:G	F28L	0.796
11:56030632:A:C	S72R	0.796
11:56030634:C:A	S72R	0.796
11:56030634:C:G	S72R	0.796
11:56030509:T:C	F31L	0.756
11:56030511:C:A	F31L	0.756

dbSNP variants (sampled 300 via entrez): RS1000192472 (11:56034692 G>A), RS1000450315 (11:56035022 G>A), RS1000863382 (11:56026507 A>G), RS1001255701 (11:56029928 C>T), RS1001489094 (11:56037290 G>A,T), RS1001604001 (11:56030245 A>G), RS1001652451 (11:56034363 G>A,T), RS1001772845 (11:56027890 T>C), RS1001821139 (11:56036400 A>G), RS1001825263 (11:56027741 C>A,T), RS1001990750 (11:56031797 T>C), RS1002106422 (11:56026780 C>A), RS1002159032 (11:56026456 T>C), RS1002208347 (11:56031239 T>A,C), RS1002381306 (11:56026234 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Copper	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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