OR1K1

Summary

OR1K1 (olfactory receptor family 1 subfamily K member 1, HGNC:8212) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 1K1 (Q8NGR3). 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 392392 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_080859

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8212
Approved symbol	OR1K1
Name	olfactory receptor family 1 subfamily K member 1
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	hg99, MNAB
Ensembl gene	ENSG00000165204
Ensembl biotype	protein_coding
Entrez	392392

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000277309

RefSeq mRNA: 1 — MANE Select: NM_080859 NM_080859

CCDS: CCDS35132

Canonical transcript exons

ENST00000277309 — 1 exons

Exon	Start	End
ENSE00000983751	122800123	122801073

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 43.85.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	43.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	43.74	silver quality
bone marrow cell	CL:0002092	43.64	gold quality
tonsil	UBERON:0002372	41.69	gold quality
colonic epithelium	UBERON:0000397	41.58	gold quality
skeletal muscle tissue	UBERON:0001134	38.38	gold quality
bone marrow	UBERON:0002371	38.13	gold quality
granulocyte	CL:0000094	37.54	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
muscle tissue	UBERON:0002385	35.96	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
corpus callosum	UBERON:0002336	34.75	gold quality
urinary bladder	UBERON:0001255	32.84	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right uterine tube	UBERON:0001302	30.42	gold quality
leukocyte	CL:0000738	29.98	gold quality
monocyte	CL:0000576	29.57	gold quality
lymph node	UBERON:0000029	28.95	gold quality
left uterine tube	UBERON:0001303	28.93	gold quality
duodenum	UBERON:0002114	28.14	gold quality
adrenal tissue	UBERON:0018303	28.14	gold quality
fallopian tube	UBERON:0003889	28.11	gold quality
smooth muscle tissue	UBERON:0001135	28.00	gold quality
kidney	UBERON:0002113	28.00	gold quality
placenta	UBERON:0001987	27.88	gold quality
pancreas	UBERON:0001264	27.47	gold quality
islet of Langerhans	UBERON:0000006	27.35	gold quality
cortex of kidney	UBERON:0001225	27.32	gold quality
superior frontal gyrus	UBERON:0002661	27.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.32

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• UV-Irradiation- and Inflammation-Induced Skin Barrier Dysfunction Is Associated with the Expression of Olfactory Receptor Genes in Human Keratinocytes. (PMID:33802009)

Cross-species orthologs

0 orthologs

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR7C1 (ENSG00000127530), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR4K2 (ENSG00000165762), OR4D6 (ENSG00000166884), OR1F1 (ENSG00000168124), OR4K14 (ENSG00000169484), OR4K15 (ENSG00000169488), OR7G3 (ENSG00000170920), OR7G2 (ENSG00000170923), OR1M1 (ENSG00000170929), OR4D5 (ENSG00000171014), OR1L6 (ENSG00000171459), OR1L3 (ENSG00000171481), OR1L8 (ENSG00000171496), OR1N2 (ENSG00000171501), OR1N1 (ENSG00000171505), OR2AT4 (ENSG00000171561), OR1A1 (ENSG00000172146), OR1A2 (ENSG00000172150), OR4C11 (ENSG00000172188), OR4X2 (ENSG00000172208), OR4D9 (ENSG00000172742), OR10K1 (ENSG00000173285), OR1L1 (ENSG00000173679), OR7D4 (ENSG00000174667), OR4S2 (ENSG00000174982), OR4B1 (ENSG00000175619), OR4D11 (ENSG00000176200), OR4K17 (ENSG00000176230)

Protein

Protein identifiers

Olfactory receptor 1K1 — Q8NGR3 (reviewed: Q8NGR3)

All UniProt accessions (2): A0A126GVB9, Q8NGR3

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_543135* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGR3-F1	85.41	0.47

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): 5

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 17 (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, REACTOME_OLFACTORY_SIGNALING_PATHWAY, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY

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

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
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	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
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

122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1K1	ZNF772	Q68DY9	496
OR1K1	RDM1	Q8NG50	440
OR1K1	DNAJC12	Q9UKB3	433
OR1K1	CMYA5	Q8N3K9	429
OR1K1	MESP2	Q0VG99	423
OR1K1	FREM2	Q5SZK8	423
OR1K1	KRT75	O95678	417
OR1K1	KLK8	O60259	409
OR1K1	CCDC57	Q2TAC2	395
OR1K1	FASTKD3	Q14CZ7	393
OR1K1	STK31	Q9BXU1	393
OR1K1	SPARCL1	Q14515	390
OR1K1	BRCA1	P38398	372
OR1K1	AMZ1	Q400G9	363
OR1K1	NKAIN4	Q8IVV8	355

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A3B3IT45, A6NMU1, O88628, P0C7T3, P47888, P47893, Q5JQS5, Q6IF63, Q6W049, Q8NGC4, Q8NGF0, Q8NGF1, Q8NGF3, Q8NGH5, Q8NGH6, Q8NGH7, Q8NGI1, Q8NGI3, Q8NGJ8, Q8NGJ9, Q8NGK3, Q8NGK4, Q8NGK5, Q8NGK6, Q8NGN2, Q8NGR3, Q8NGR4, Q8NGR6, Q8NGT2, Q8NGU4, Q8NH06, Q8NH08, Q8NH53, Q8NH54, Q8NH55, Q8NH56, Q8NH57, Q8NH59, Q8NH60, Q8NH63

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

232 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122800530:G:GT	donor_gain	0.9200
9:122800491:C:G	donor_gain	0.6800
9:122800562:G:GT	donor_gain	0.6100
9:122800454:C:G	donor_gain	0.5800
9:122800544:T:G	donor_gain	0.5800
9:122800644:A:G	acceptor_gain	0.5600
9:122800563:A:T	donor_gain	0.5500
9:122801060:C:G	donor_gain	0.5500
9:122800561:G:A	donor_gain	0.5100
9:122800928:C:T	donor_gain	0.5100
9:122800559:T:TA	donor_gain	0.5000
9:122800867:G:GG	donor_gain	0.5000
9:122801059:GCTA:G	donor_gain	0.5000
9:122800556:T:TA	donor_gain	0.4900
9:122800643:AAGT:A	acceptor_gain	0.4900
9:122800743:G:GA	donor_gain	0.4900
9:122800277:C:T	donor_gain	0.4800
9:122800560:G:GA	donor_gain	0.4800
9:122800250:A:AG	donor_gain	0.4600
9:122800448:G:A	donor_gain	0.4600
9:122800746:G:GA	donor_gain	0.4600
9:122800824:G:T	donor_gain	0.4600
9:122800863:TGTGG:T	donor_loss	0.4600
9:122800865:TGGTG:T	donor_loss	0.4600
9:122800867:G:T	donor_loss	0.4600
9:122800868:T:G	donor_loss	0.4600
9:122800869:GA:G	donor_loss	0.4600
9:122800929:AG:A	donor_gain	0.4600
9:122800996:A:AG	acceptor_gain	0.4600
9:122800997:G:GG	acceptor_gain	0.4600

AlphaMissense

2020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122800627:T:C	F169L	0.851
9:122800629:C:A	F169L	0.851
9:122800629:C:G	F169L	0.851
9:122800876:T:C	F252L	0.816
9:122800878:C:A	F252L	0.816
9:122800878:C:G	F252L	0.816
9:122800159:T:C	F13L	0.760
9:122800161:C:A	F13L	0.760
9:122800161:C:G	F13L	0.760
9:122800654:T:C	F178L	0.755
9:122800656:C:A	F178L	0.755
9:122800656:C:G	F178L	0.755
9:122800870:A:C	S250R	0.737
9:122800872:C:A	S250R	0.737
9:122800872:C:G	S250R	0.737
9:122800361:C:A	P80H	0.722
9:122800657:T:C	F179L	0.698
9:122800659:C:A	F179L	0.698
9:122800659:C:G	F179L	0.698
9:122800342:T:C	F74L	0.693
9:122800344:C:A	F74L	0.693
9:122800344:C:G	F74L	0.693
9:122800216:T:C	F32L	0.674
9:122800218:C:A	F32L	0.674
9:122800218:C:G	F32L	0.674
9:122800306:T:C	F62L	0.662
9:122800308:C:A	F62L	0.662
9:122800308:C:G	F62L	0.662
9:122800370:T:C	L83S	0.662
9:122800459:A:C	S113R	0.638

dbSNP variants (sampled 300 via entrez): RS1000363825 (9:122799608 T>A), RS1000803420 (9:122798886 G>C), RS1001197051 (9:122799185 T>G), RS1001419980 (9:122800846 T>C), RS1001669438 (9:122799502 T>C), RS1004260710 (9:122799540 A>G), RS1005003287 (9:122798255 C>T), RS1005214971 (9:122800441 G>C,T), RS1007002126 (9:122798146 T>C), RS1007074079 (9:122798516 T>G), RS1008336670 (9:122798707 G>A), RS1009757548 (9:122799851 C>G,T), RS1011305398 (9:122798912 G>A), RS1016018194 (9:122799541 A>T), RS1016225415 (9:122801420 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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