OR13A1

Summary

OR13A1 (olfactory receptor family 13 subfamily A member 1, HGNC:14772) is a protein-coding gene on chromosome 10q11.21, encoding Olfactory receptor 13A1 (Q8NGR1). 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 79290 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_001004297

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14772
Approved symbol	OR13A1
Name	olfactory receptor family 13 subfamily A member 1
Location	10q11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000256574
Ensembl biotype	protein_coding
Entrez	79290

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000374401, ENST00000536058, ENST00000553795, ENST00000894987, ENST00000894988, ENST00000955933

RefSeq mRNA: 1 — MANE Select: NM_001004297 NM_001004297

CCDS: CCDS31188

Canonical transcript exons

ENST00000553795 — 4 exons

Exon	Start	End
ENSE00002073787	45315524	45315608
ENSE00002081896	45307739	45307808
ENSE00002318856	45307426	45307567
ENSE00003895384	45302650	45304434

Expression profiles

Bgee: expression breadth broad, 51 present calls, max score 86.88.

Top tissues by expression

95 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	86.88	silver quality
lymph node	UBERON:0000029	54.31	gold quality
spleen	UBERON:0002106	53.68	gold quality
granulocyte	CL:0000094	50.95	silver quality
esophagus mucosa	UBERON:0002469	50.87	gold quality
blood	UBERON:0000178	50.48	gold quality
lower esophagus mucosa	UBERON:0035834	50.47	gold quality
urinary bladder	UBERON:0001255	48.96	gold quality
mucosa of transverse colon	UBERON:0004991	48.60	gold quality
cerebellar cortex	UBERON:0002129	48.52	gold quality
cerebellum	UBERON:0002037	48.51	gold quality
cerebellar hemisphere	UBERON:0002245	48.46	gold quality
right hemisphere of cerebellum	UBERON:0014890	47.16	silver quality
vermiform appendix	UBERON:0001154	47.11	gold quality
bone marrow cell	CL:0002092	47.09	gold quality
islet of Langerhans	UBERON:0000006	46.90	gold quality
tonsil	UBERON:0002372	45.71	gold quality
bone marrow	UBERON:0002371	44.87	gold quality
prefrontal cortex	UBERON:0000451	44.20	silver quality
small intestine Peyer’s patch	UBERON:0003454	43.59	gold quality
apex of heart	UBERON:0002098	43.15	silver quality
prostate gland	UBERON:0002367	42.98	gold quality
esophagus	UBERON:0001043	42.52	gold quality
right lung	UBERON:0002167	42.44	gold quality
small intestine	UBERON:0002108	42.43	gold quality
duodenum	UBERON:0002114	42.25	silver quality
pancreas	UBERON:0001264	41.36	gold quality
colonic epithelium	UBERON:0000397	41.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	41.16	silver quality
frontal cortex	UBERON:0001870	40.89	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting OR13A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-3152-3P	99.10	66.35	678
HSA-MIR-219A-1-3P	98.91	67.87	639
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-4421	97.99	64.89	701
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-5699-3P	97.81	65.00	861
HSA-MIR-4474-3P	96.97	65.87	870
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-549A-5P	96.35	68.08	587
HSA-MIR-6835-5P	95.81	64.27	500

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or13a1	ENSMUSG00000053391
rattus_norvegicus	Or13a1	ENSRNOG00000088485

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 13A1 — Q8NGR1 (reviewed: Q8NGR1)

Alternative names: Olfactory receptor OR10-3

All UniProt accessions (2): Q8NGR1, A0A126GVD8

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_001004297* (*=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 (18 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGR1-F1	85.32	0.55

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): 115–207

Glycosylation sites (1): 23

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 20 (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, ZNF184_TARGET_GENES, MIR3613_5P, MIR500B_3P, REACTOME_OLFACTORY_SIGNALING_PATHWAY

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

208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR13A1	SATL1	Q86VE3	488
OR13A1	ZNF835	Q9Y2P0	447
OR13A1	JHY	Q6NUN7	431
OR13A1	ZNF492	Q9P255	419
OR13A1	MOGAT3	Q86VF5	406
OR13A1	CEP15	Q9HBI5	393
OR13A1	TMEM72	A0PK05	370
OR13A1	BTBD10	Q9BSF8	368
OR13A1	HOMEZ	Q8IX15	357
OR13A1	UXS1	Q8NBZ7	323
OR13A1	CRYZL1	O95825	321
OR13A1	B4GALNT3	Q6L9W6	320
OR13A1	CENPL	Q8N0S6	306
OR13A1	RNF19B	Q6ZMZ0	303
OR13A1	ERGIC3	Q9Y282	298

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR13A1	CLTCL1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): CLTCL1 (Affinity Capture-MS)

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: A4D2G3, A6ND48, A6NL26, O43749, O60412, O76099, P0C7N5, P0DMU2, P0DN82, P23265, P23266, P23269, P23272, P23273, P23274, P30953, P30955, P34984, P34985, P34986, P35896, P47887, P47890, P58173, P58181, P58182, P70526, Q0VAX9, Q13606, Q13607, Q15617, Q15619, Q60893, Q6IFN5, Q6UXT6, Q7TQQ0, Q7TRF3, Q8N127, Q8NG98, Q8NGA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	67
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

528 predictions. Top by Δscore:

Variant	Effect	Δscore
10:45307708:A:AC	donor_gain	1.0000
10:45307709:C:CC	donor_gain	1.0000
10:45304496:CATCA:C	acceptor_gain	0.9900
10:45304498:TCA:T	acceptor_gain	0.9900
10:45304499:CAC:C	acceptor_gain	0.9900
10:45304501:C:CC	acceptor_gain	0.9900
10:45307425:CCCA:C	donor_gain	0.9900
10:45307428:A:AC	donor_gain	0.9900
10:45307429:C:CC	donor_gain	0.9900
10:45307432:A:AC	donor_gain	0.9900
10:45307709:CTG:C	donor_gain	0.9900
10:45304435:C:CC	acceptor_gain	0.9800
10:45304499:CA:C	acceptor_gain	0.9800
10:45304500:AC:A	acceptor_loss	0.9800
10:45304501:C:A	acceptor_loss	0.9800
10:45304502:T:A	acceptor_loss	0.9800
10:45307433:T:C	donor_gain	0.9800
10:45304430:CAGAG:C	acceptor_gain	0.9700
10:45304505:A:C	acceptor_gain	0.9700
10:45304497:ATCA:A	acceptor_gain	0.9300
10:45304431:AGAGC:A	acceptor_loss	0.9200
10:45304432:GAGC:G	acceptor_loss	0.9200
10:45304433:AGCTA:A	acceptor_loss	0.9200
10:45304434:GCTA:G	acceptor_loss	0.9200
10:45304435:CTA:C	acceptor_loss	0.9200
10:45304436:T:A	acceptor_loss	0.9200
10:45304443:A:C	acceptor_loss	0.9200
10:45304504:CA:C	acceptor_gain	0.9200
10:45306907:T:A	donor_gain	0.9200
10:45306903:A:AC	donor_gain	0.9100

AlphaMissense

2160 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:45304333:G:C	F30L	0.971
10:45304333:G:T	F30L	0.971
10:45304335:A:G	F30L	0.971
10:45303865:G:C	F186L	0.963
10:45303865:G:T	F186L	0.963
10:45303867:A:G	F186L	0.963
10:45304334:A:G	F30S	0.954
10:45303523:A:C	S300R	0.949
10:45303523:A:T	S300R	0.949
10:45303525:T:G	S300R	0.949
10:45303838:G:C	F195L	0.925
10:45303838:G:T	F195L	0.925
10:45303840:A:G	F195L	0.925
10:45303866:A:C	F186C	0.916
10:45303866:A:G	F186S	0.911
10:45304334:A:C	F30C	0.910
10:45303835:G:C	F196L	0.904
10:45303835:G:T	F196L	0.904
10:45303837:A:G	F196L	0.904
10:45303833:C:G	C197S	0.902
10:45303834:A:T	C197S	0.902
10:45304015:C:A	M136I	0.892
10:45304015:C:G	M136I	0.892
10:45304015:C:T	M136I	0.892
10:45303833:C:T	C197Y	0.889
10:45304004:C:G	R140P	0.888
10:45304079:C:G	C115S	0.887
10:45304080:A:T	C115S	0.887
10:45304318:A:C	F35L	0.881
10:45304318:A:T	F35L	0.881

dbSNP variants (sampled 300 via entrez): RS1000526483 (10:45315985 T>G), RS1000726436 (10:45310563 C>T), RS1000906165 (10:45305419 A>G), RS1000951249 (10:45310889 T>G), RS1001141411 (10:45305467 C>A,T), RS1001284987 (10:45309795 C>A), RS1001334287 (10:45306054 C>T), RS1001411280 (10:45304153 G>A), RS1001476198 (10:45305301 A>T), RS1001869463 (10:45313926 A>G), RS1001920733 (10:45308236 T>A,C), RS1001938007 (10:45315182 C>G,T), RS1002023513 (10:45314734 ACCC>A), RS1002246419 (10:45309751 G>A), RS1002541280 (10:45313604 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

1 associations (top):

Study	Trait	p-value
GCST005588_42	Idiopathic dilated cardiomyopathy	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009094	idiopathic dilated cardiomyopathy

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
propionaldehyde	decreases expression	1
butyraldehyde	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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