OR56A1

Summary

OR56A1 (olfactory receptor family 56 subfamily A member 1, HGNC:14781) is a protein-coding gene on chromosome 11p15.4, encoding Olfactory receptor 56A1 (Q8NGH5). 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 120796 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_001388488

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14781
Approved symbol	OR56A1
Name	olfactory receptor family 56 subfamily A member 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000180934
Ensembl biotype	protein_coding
Entrez	120796

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000641423, ENST00000641900, ENST00000641938

RefSeq mRNA: 2 — MANE Select: NM_001388488 NM_001001917, NM_001388488

CCDS: CCDS31405

Canonical transcript exons

ENST00000641900 — 2 exons

Exon	Start	End
ENSE00003813806	6030702	6030758
ENSE00003814246	6019336	6027726

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 50.78.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	50.78	gold quality
bone marrow cell	CL:0002092	44.86	gold quality
granulocyte	CL:0000094	40.28	gold quality
sural nerve	UBERON:0015488	39.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.43	gold quality
bone marrow	UBERON:0002371	38.31	gold quality
monocyte	CL:0000576	36.55	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
leukocyte	CL:0000738	36.43	gold quality
skeletal muscle tissue	UBERON:0001134	36.04	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
calcaneal tendon	UBERON:0003701	35.46	gold quality
muscle tissue	UBERON:0002385	33.01	gold quality
adrenal tissue	UBERON:0018303	32.76	gold quality
liver	UBERON:0002107	32.63	gold quality
blood	UBERON:0000178	32.22	gold quality
superior frontal gyrus	UBERON:0002661	31.98	gold quality
testis	UBERON:0000473	30.44	silver quality
prefrontal cortex	UBERON:0000451	29.94	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
endometrium	UBERON:0001295	29.45	gold quality
corpus callosum	UBERON:0002336	29.40	gold quality
urinary bladder	UBERON:0001255	29.27	gold quality
left testis	UBERON:0004533	28.30	silver quality
right uterine tube	UBERON:0001302	28.25	gold quality
duodenum	UBERON:0002114	28.14	gold quality
islet of Langerhans	UBERON:0000006	27.94	gold quality
primary visual cortex	UBERON:0002436	27.74	gold quality
kidney	UBERON:0002113	27.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.23

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	adra1ab	ENSDARG00000027638
danio_rerio	adra2db	ENSDARG00000054667
danio_rerio	adra2da	ENSDARG00000091277
caenorhabditis_elegans	ser-5	WBGENE00008890

Paralogs (18): ADRB1 (ENSG00000043591), ADRA1A (ENSG00000120907), DRD2 (ENSG00000149295), ADRA2A (ENSG00000150594), GPR101 (ENSG00000165370), ADRB2 (ENSG00000169252), ADRA1B (ENSG00000170214), ADRA1D (ENSG00000171873), OR5T3 (ENSG00000172489), OR5T1 (ENSG00000181698), OR5T2 (ENSG00000181718), OR56A4 (ENSG00000183389), ADRA2C (ENSG00000184160), OR56A3 (ENSG00000184478), OR13F1 (ENSG00000186881), OR56A5 (ENSG00000188691), ADRB3 (ENSG00000188778), ADRA2B (ENSG00000274286)

Protein

Protein identifiers

Olfactory receptor 56A1 — Q8NGH5 (reviewed: Q8NGH5)

Alternative names: Olfactory receptor OR11-75

All UniProt accessions (1): A0A286YFC4

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 (2): NP_001001917, NP_001375417* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050402	OR51/52/56-like	Family

Pfam: PF13853

UniProt features (21 total): topological domain 8, transmembrane region 7, glycosylation site 3, chain 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGH5-F1	84.81	0.50

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): 104–196

Glycosylation sites (3): 10, 188, 198

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_CELLULAR_RESPONSE_TO_LIPID, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_RESPONSE_TO_LIPID, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, 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, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION

GO Biological Process (6): cellular response to lipid (GO:0071396), system process (GO:0003008), 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), signaling receptor activity (GO:0038023)

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
response to lipid	1
cellular response to chemical stimulus	1
multicellular organismal process	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 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
molecular transducer activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR56A1	CNGA4	Q8IV77	434
OR56A1	GPR171	O14626	390
OR56A1	GPR87	Q9BY21	381
OR56A1	TRIM68	Q6AZZ1	338
OR56A1	PPP2R5D	Q14738	287
OR56A1	P2RY13	Q9BPV8	266
OR56A1	PPP2R5A	Q15172	263
OR56A1	TRIM34	Q9BYJ4	259
OR56A1	P2RY14	Q15391	253
OR56A1	CNST	Q6PJW8	247
OR56A1	SURF2	Q15527	245
OR56A1	SPNS3	Q6ZMD2	243
OR56A1	FAM177A1	Q8N128	241
OR56A1	TMCO5A	Q8N6Q1	241
OR56A1	PPP2R2A	P50409	237

IntAct

0 interactions, top by confidence:

BioGRID (2): SEPT1 (Cross-Linking-MS (XL-MS)), TRIM45 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A3B3IT45, A6NMU1, A6NND4, O88628, P0C7T3, Q6W049, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGJ4, Q8NGJ8, Q8NGJ9, Q8NGK2, Q8NGK3, Q8NGK4, Q8NGK6, Q8NGU1, Q8NGW6, Q8NGY3, Q8NH53, Q8NH54, Q8NH55, Q8NH56, Q8NH57, Q8NH60, Q8NH61, Q8NH63, Q8NH67, Q8NH76, Q8TCB6, Q8VBV9

Diamond homologs: A0A3B3IT45, A4D2G3, A6NF89, A6NGY5, A6NL08, A6NL26, A6NMU1, A6NND4, O88628, P0C629, P0C646, P0C7N1, P0C7T3, P23266, P23273, P23274, P30954, Q13606, Q60888, Q62007, Q6IF63, Q6IFG1, Q6W049, Q8NGA6, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGG8, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGH8, Q8NGH9, Q8NGI0, Q8NGI1, Q8NGI2, Q8NGI3, Q8NGI7, Q8NGJ2, Q8NGJ3

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	44
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

209 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6027114:A:AC	donor_gain	0.9300
11:6026924:TGGTG:T	acceptor_gain	0.7700
11:6026929:C:CC	acceptor_gain	0.7500
11:6027412:G:GT	donor_gain	0.7500
11:6027292:C:CT	donor_gain	0.7100
11:6027441:G:T	donor_gain	0.7000
11:6026927:TG:T	acceptor_gain	0.6800
11:6027019:A:AC	donor_gain	0.5900
11:6027253:G:C	donor_gain	0.5900
11:6026925:GGTG:G	acceptor_gain	0.5600
11:6027237:CACAA:C	donor_gain	0.5500
11:6026926:GTG:G	acceptor_gain	0.5400
11:6027287:G:C	donor_gain	0.5400
11:6027231:C:A	donor_gain	0.5300
11:6027353:C:CA	donor_gain	0.5300
11:6027420:ATCAT:A	donor_loss	0.5100
11:6027421:TCATA:T	donor_loss	0.5100
11:6027422:CATAC:C	donor_loss	0.5100
11:6027423:AT:A	donor_loss	0.5100
11:6027424:TA:T	donor_loss	0.5100
11:6027425:A:C	donor_loss	0.5100
11:6027426:C:CA	donor_loss	0.5100
11:6027013:G:C	donor_gain	0.4900
11:6027115:T:C	donor_gain	0.4900
11:6027427:C:T	donor_loss	0.4900
11:6027020:G:C	donor_gain	0.4800
11:6027236:C:CT	donor_gain	0.4700
11:6026926:G:C	acceptor_gain	0.4600
11:6027238:A:T	donor_gain	0.4600
11:6027059:AGC:A	donor_gain	0.4500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000028919 (11:6029312 G>T), RS1000056703 (11:6029678 C>T), RS1000308790 (11:6023738 C>T), RS1000376731 (11:6025123 T>C), RS1000723946 (11:6031529 G>A), RS1000898091 (11:6025255 A>G), RS1001030860 (11:6031016 G>A,T), RS1001144075 (11:6021209 G>A), RS1001238625 (11:6025010 G>C), RS1001370110 (11:6023853 A>G), RS1001487251 (11:6029750 C>T), RS1001546065 (11:6030144 A>T), RS1001800200 (11:6024134 G>C), RS1001874121 (11:6032499 C>A), RS1001988851 (11:6032926 G>A)

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

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Cadmium	decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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