OR11A1

Summary

OR11A1 (olfactory receptor family 11 subfamily A member 1, HGNC:8176) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 11A1 (Q9GZK7). 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 26531 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 36 total
• MANE Select transcript: NM_001394828

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8176
Approved symbol	OR11A1
Name	olfactory receptor family 11 subfamily A member 1
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-18
Ensembl gene	ENSG00000204694
Ensembl biotype	protein_coding
Entrez	26531

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000377148, ENST00000377149, ENST00000641152

RefSeq mRNA: 3 — MANE Select: NM_001394828 NM_001394828, NM_001394829, NM_013937

CCDS: CCDS34363

Canonical transcript exons

ENST00000377149 — 5 exons

Exon	Start	End
ENSE00001600470	29430301	29430425
ENSE00001606957	29428913	29428960
ENSE00001610845	29425504	29427732
ENSE00001632024	29456987	29457071
ENSE00001664587	29431864	29431987

Expression profiles

Bgee: expression breadth tissue_specific, 5 present calls, max score 80.62.

Top tissues by expression

129 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	80.62	gold quality
cortical plate	UBERON:0005343	40.14	gold quality
bone marrow cell	CL:0002092	38.03	gold quality
ganglionic eminence	UBERON:0004023	37.31	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
sural nerve	UBERON:0015488	36.48	gold quality
testis	UBERON:0000473	36.18	gold quality
apex of heart	UBERON:0002098	35.92	gold quality
right testis	UBERON:0004534	35.56	silver quality
granulocyte	CL:0000094	34.64	gold quality
left testis	UBERON:0004533	33.70	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
right uterine tube	UBERON:0001302	32.86	gold quality
bone marrow	UBERON:0002371	32.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
corpus callosum	UBERON:0002336	31.42	gold quality
adrenal tissue	UBERON:0018303	31.39	gold quality
endometrium	UBERON:0001295	31.38	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
calcaneal tendon	UBERON:0003701	30.88	gold quality
liver	UBERON:0002107	30.67	gold quality
leukocyte	CL:0000738	30.64	gold quality
monocyte	CL:0000576	30.41	gold quality
prefrontal cortex	UBERON:0000451	30.09	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
muscle of leg	UBERON:0001383	29.29	gold quality
cerebellum	UBERON:0002037	29.09	gold quality
cerebellar cortex	UBERON:0002129	28.96	gold quality
Ammon’s horn	UBERON:0001954	28.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.27

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or11a4	ENSMUSG00000064121
rattus_norvegicus	Or11a4	ENSRNOG00000000765

Paralogs (33): TACR2 (ENSG00000075073), PROKR2 (ENSG00000101292), GPR50 (ENSG00000102195), TACR1 (ENSG00000115353), GPR75 (ENSG00000119737), PRLHR (ENSG00000119973), GPR83 (ENSG00000123901), MCHR1 (ENSG00000128285), OR11H1 (ENSG00000130538), MTNR1B (ENSG00000134640), MCHR2 (ENSG00000152034), NPY1R (ENSG00000164128), NPY5R (ENSG00000164129), MTNR1A (ENSG00000168412), PROKR1 (ENSG00000169618), TACR3 (ENSG00000169836), OR9G1 (ENSG00000174914), OR11H4 (ENSG00000176198), OR11H6 (ENSG00000176219), OR9A2 (ENSG00000179468), GPR88 (ENSG00000181656), GPR19 (ENSG00000183150), NPY2R (ENSG00000185149), OR11G2 (ENSG00000196832), NPY4R (ENSG00000204174), OR9A1P (ENSG00000237621), OR11H12 (ENSG00000257115), OR9A4 (ENSG00000258083), OR11H2 (ENSG00000258453), OR11H7 (ENSG00000258806), NPY4R2 (ENSG00000264717), OR10X1 (ENSG00000279111), OR51F1 (ENSG00000280021)

Protein

Protein identifiers

Olfactory receptor 11A1 — Q9GZK7 (reviewed: Q9GZK7)

Alternative names: Hs6M1-18, Olfactory receptor 11A2, Olfactory receptor OR6-30

All UniProt accessions (2): Q9GZK7, A0A024RCH9

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 (3): NP_001381757, NP_001381758, NP_039225 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050939	Olfactory_GPCR1	Family

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-Q9GZK7-F1	86.37	0.53

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): 8

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381753	Olfactory Signaling Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 52 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, 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_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, GHANDHI_DIRECT_IRRADIATION_UP, WARTERS_RESPONSE_TO_IR_SKIN, WARTERS_IR_RESPONSE_5GY, DCA_UP.V1_DN

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 (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory Perception	1
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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR11A1	ZNF221	Q9UK13	507
OR11A1	KRTAP10-7	P60409	506
OR11A1	ZSWIM1	Q9BR11	419
OR11A1	ZNF780A	O75290	418
OR11A1	GRTP1	Q5TC63	390
OR11A1	GNG8	Q9UK08	368
OR11A1	MICOS10	Q5TGZ0	363
OR11A1	GPATCH4	Q5T3I0	357
OR11A1	PIGQ	Q9BRB3	349
OR11A1	RFX8	Q6ZV50	349
OR11A1	LLPH	Q9BRT6	348
OR11A1	MYOZ3	Q8TDC0	345
OR11A1	SNX20	Q7Z614	323
OR11A1	SFTA2	Q6UW10	323
OR11A1	CNGA2	Q16280	318

IntAct

0 interactions, top by confidence:

BioGRID (1): OR11A1 (Affinity Capture-MS)

ESM2 similar proteins: A3KFT3, A6NM03, A6NND4, O14581, O60412, O76099, P34982, P35898, Q0VAX9, Q15612, Q15622, Q60887, Q60891, Q8N349, Q8NG80, Q8NG83, Q8NG84, Q8NG85, Q8NG92, Q8NG95, Q8NG99, Q8NGC7, Q8NGC9, Q8NGE0, Q8NGE9, Q8NGQ5, Q8NGR1, Q8NGR6, Q8NGR9, Q8NGU1, Q8NGX1, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH03, Q8NH16, Q8NHA4, Q8NHA8, Q95157, Q9GZK7

Diamond homologs: A3KFT3, A4D2G3, A6NF89, A6NND4, O43749, O60412, O76099, O76100, O95007, O95222, O95918, P0C7N1, P0C7N5, P0DN81, P23265, P23266, P23267, P23268, P23269, P23270, P23272, P23273, P30953, P34984, P34986, P47881, P47890, P58173, Q0VAX9, Q15619, Q15622, Q5JQS5, Q5TZ20, Q60879, Q60882, Q60886, Q6IFH4, Q7TRF3, Q8NG83, Q8NG98

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

697 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29426690:T:A	donor_gain	0.9900
6:29431859:CGTA:C	donor_loss	0.9900
6:29431861:TAC:T	donor_loss	0.9900
6:29431862:ACCC:A	donor_loss	0.9900
6:29440519:C:CA	acceptor_gain	0.9900
6:29426620:C:CA	donor_gain	0.9800
6:29431862:A:AC	donor_gain	0.9800
6:29431862:AC:A	donor_gain	0.9800
6:29431863:C:CC	donor_gain	0.9800
6:29431863:CC:C	donor_gain	0.9800
6:29427733:C:CC	acceptor_gain	0.9700
6:29426632:AT:A	donor_gain	0.9600
6:29431483:TTCC:T	donor_gain	0.9600
6:29426633:T:TA	donor_gain	0.9500
6:29431857:AACGT:A	donor_loss	0.9500
6:29431858:ACGT:A	donor_loss	0.9500
6:29426614:G:C	donor_gain	0.9400
6:29426617:ACT:A	donor_gain	0.9400
6:29426618:CTC:C	donor_gain	0.9400
6:29426618:CTCCT:C	donor_gain	0.9400
6:29426617:A:AC	donor_gain	0.9300
6:29426618:C:CC	donor_gain	0.9300
6:29427728:TAGAG:T	acceptor_gain	0.9300
6:29426610:CAAAG:C	donor_gain	0.9200
6:29440517:T:TA	acceptor_gain	0.9200
6:29431482:TTTC:T	donor_gain	0.9100
6:29440520:G:A	acceptor_gain	0.9100
6:29427621:T:TA	donor_gain	0.8900
6:29440418:C:G	donor_gain	0.8900
6:29439650:G:GT	donor_gain	0.8800

AlphaMissense

2041 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29427135:G:C	F169L	0.952
6:29427135:G:T	F169L	0.952
6:29427137:A:G	F169L	0.952
6:29426886:G:C	F252L	0.938
6:29426886:G:T	F252L	0.938
6:29426888:A:G	F252L	0.938
6:29427108:A:C	F178L	0.923
6:29427108:A:T	F178L	0.923
6:29427110:A:G	F178L	0.923
6:29427600:A:C	F14L	0.923
6:29427600:A:T	F14L	0.923
6:29427602:A:G	F14L	0.923
6:29427285:C:A	M119I	0.916
6:29427285:C:G	M119I	0.916
6:29427285:C:T	M119I	0.916
6:29427274:C:G	R123P	0.904
6:29427136:A:C	F169C	0.891
6:29426781:A:C	N287K	0.878
6:29426781:A:T	N287K	0.878
6:29427136:A:G	F169S	0.877
6:29427601:A:G	F14S	0.876
6:29427510:A:C	N44K	0.875
6:29427510:A:T	N44K	0.875
6:29427327:G:C	F105L	0.873
6:29427327:G:T	F105L	0.873
6:29427329:A:G	F105L	0.873
6:29427601:A:C	F14C	0.873
6:29427585:G:C	F19L	0.870
6:29427585:G:T	F19L	0.870
6:29427587:A:G	F19L	0.870

dbSNP variants (sampled 300 via entrez): RS1000277325 (6:29443044 A>G), RS1000287569 (6:29454465 T>C), RS1000325130 (6:29455252 T>C), RS1000453771 (6:29437181 T>A,G), RS1000636481 (6:29428496 C>T), RS1000713671 (6:29450112 G>T), RS1000839776 (6:29435167 C>T), RS1000955339 (6:29442396 G>C), RS1000998331 (6:29447911 A>C), RS1001117202 (6:29438263 CAAAG>C), RS1001132260 (6:29428303 A>C), RS1001140842 (6:29425192 T>C,G), RS1001463241 (6:29430637 GAAT>G), RS1001466790 (6:29438829 G>C), RS1001510877 (6:29438491 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

20 associations (top):

Study	Trait	p-value
GCST002875_49	Diisocyanate-induced asthma	1.000000e-06
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST008916_89	Asthma	2.000000e-10
GCST008921_5	Asthma and major depressive disorder	4.000000e-10
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16
GCST90020028_876	Hip circumference adjusted for BMI	9.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference

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
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
CGP 52608	affects binding, increases reaction	1
Arsenic	affects methylation	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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