OR8K1

Summary

OR8K1 (olfactory receptor family 8 subfamily K member 1, HGNC:14831) is a protein-coding gene on chromosome 11q12.1, encoding Olfactory receptor 8K1 (Q8NGG5). 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 390157 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_001002907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14831
Approved symbol	OR8K1
Name	olfactory receptor family 8 subfamily K member 1
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000150261
Ensembl biotype	protein_coding
Entrez	390157

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000279783

RefSeq mRNA: 1 — MANE Select: NM_001002907 NM_001002907

CCDS: CCDS31528

Canonical transcript exons

ENST00000279783 — 1 exons

Exon	Start	End
ENSE00000994287	56346039	56346998

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
sural nerve	UBERON:0015488	35.95	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
monocyte	CL:0000576	30.26	gold quality
leukocyte	CL:0000738	30.02	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
right coronary artery	UBERON:0001625	27.76	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.07	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
muscle of leg	UBERON:0001383	24.94	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.14	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
uterine cervix	UBERON:0000002	24.00	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

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or8k1	ENSMUSG00000075197
rattus_norvegicus	Or8k1	ENSRNOG00000009747

Paralogs (96): OR5C1 (ENSG00000148215), OR5F1 (ENSG00000149133), 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), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 8K1 — Q8NGG5 (reviewed: Q8NGG5)

Alternative names: Olfactory receptor OR11-182

All UniProt accessions (2): Q8NGG5, A0A126GVZ6

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_001002907* (*=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 3, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NGG5-F1	88.28	0.65

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 8

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_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, chr11q12

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-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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

222 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR8K1	CCDC126	Q96EE4	358
OR8K1	OPN5	Q6U736	356
OR8K1	CSPP1	Q1MSJ5	321
OR8K1	ASB17	Q8WXJ9	321
OR8K1	KRTAP9-1	A8MXZ3	320
OR8K1	DPY19L3	Q6ZPD9	308
OR8K1	DCTN2	Q13561	307
OR8K1	TAS2R38	P59533	293
OR8K1	SIRPB1	O00241	290
OR8K1	PEG3	P78418	279
OR8K1	KRTAP9-2	Q9BYQ4	268
OR8K1	GALNTL5	Q7Z4T8	261
OR8K1	RXFP1	Q9HBX9	258
OR8K1	ZNF423	Q2M1K9	256
OR8K1	ADGRL2	O95490	252

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NF89, A6NHG9, A6NIJ9, A6NJZ3, A6NKK0, A6NM76, P0C617, P0DN80, P34983, P37067, P37069, Q60884, Q60886, Q7TR96, Q8N162, Q8NGE1, Q8NGE2, Q8NGF7, Q8NGG5, Q8NGI8, Q8NGL4, Q8NGQ3, Q8NGS5, Q8NGV6, Q8NGV7, Q8NH89, Q8NH90, Q8NH92, Q8NH93, Q8NHB8, Q8NHC7, Q8VEW2, Q8VEW6, Q8VEX6, Q8VF12, Q8VF13, Q8VFB9, Q8VFD1

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O43749, O76100, O95006, O95007, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23267, P23269, P23272, P23274, P34984, P58173, P70526, Q13606, Q15619, Q15622, Q6IF82, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N148, Q8N628, Q8NG78, Q8NGA1, Q8NGC2, Q8NGC5, Q8NGE1, Q8NGE2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

163 predictions. Top by Δscore:

Variant	Effect	Δscore
11:56346722:A:AG	acceptor_gain	0.7800
11:56346723:G:GG	acceptor_gain	0.7800
11:56346723:GT:G	acceptor_gain	0.7500
11:56346710:C:G	acceptor_gain	0.7200
11:56346703:T:G	acceptor_gain	0.7100
11:56346722:AGT:A	acceptor_gain	0.7100
11:56346723:GTG:G	acceptor_gain	0.7100
11:56346712:T:G	acceptor_gain	0.6800
11:56346719:TCTA:T	acceptor_loss	0.6800
11:56346720:CTA:C	acceptor_loss	0.6800
11:56346722:A:AT	acceptor_loss	0.6800
11:56346232:T:G	donor_gain	0.6700
11:56346050:G:GA	donor_gain	0.6600
11:56346711:AT:A	acceptor_gain	0.6600
11:56346722:AGTG:A	acceptor_gain	0.6400
11:56346723:GTGG:G	acceptor_gain	0.6400
11:56346077:CAAG:C	donor_loss	0.6100
11:56346079:AG:A	donor_loss	0.6100
11:56346081:GT:G	donor_loss	0.6100
11:56346082:T:G	donor_loss	0.6100
11:56346711:A:AG	acceptor_gain	0.6100
11:56346723:GTGGC:G	acceptor_gain	0.6000
11:56346174:A:AG	donor_gain	0.5800
11:56346471:A:T	donor_gain	0.5800
11:56346722:AGTGG:A	acceptor_gain	0.5700
11:56346910:T:A	acceptor_gain	0.5700
11:56346709:ACAT:A	acceptor_gain	0.5600
11:56346721:TAGTG:T	acceptor_gain	0.5600
11:56346046:ATGT:A	donor_gain	0.5400
11:56346705:T:G	acceptor_gain	0.5200

AlphaMissense

2093 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:56346090:T:C	F18L	0.774
11:56346092:T:A	F18L	0.774
11:56346092:T:G	F18L	0.774
11:56346558:T:C	F174L	0.741
11:56346560:C:A	F174L	0.741
11:56346560:C:G	F174L	0.741
11:56346768:T:C	F244L	0.696
11:56346770:C:A	F244L	0.696
11:56346770:C:G	F244L	0.696
11:56346935:G:C	R299S	0.685
11:56346935:G:T	R299S	0.685
11:56346585:T:C	F183L	0.631
11:56346587:T:A	F183L	0.631
11:56346587:T:G	F183L	0.631
11:56346510:A:C	S158R	0.626
11:56346512:C:A	S158R	0.626
11:56346512:C:G	S158R	0.626
11:56346237:T:C	F67L	0.619
11:56346239:T:A	F67L	0.619
11:56346239:T:G	F67L	0.619
11:56346546:T:C	F170L	0.605
11:56346548:T:A	F170L	0.605
11:56346548:T:G	F170L	0.605
11:56346825:T:C	F263L	0.585
11:56346827:T:A	F263L	0.585
11:56346827:T:G	F263L	0.585
11:56346147:T:C	F37L	0.574
11:56346149:C:A	F37L	0.574
11:56346149:C:G	F37L	0.574
11:56346807:T:C	F257L	0.571

dbSNP variants (sampled 300 via entrez): RS1000379530 (11:56344550 G>A,C), RS1001760883 (11:56345444 A>G), RS1002053143 (11:56346096 C>T), RS1002885303 (11:56346500 C>G,T), RS1003035028 (11:56344078 A>G), RS1004179867 (11:56347250 C>G), RS1004769924 (11:56346978 C>A,G,T), RS1004875183 (11:56345039 G>C), RS1005509358 (11:56344038 TA>T,TAA), RS1008848708 (11:56346851 T>G), RS1010066780 (11:56345533 A>G), RS1010121473 (11:56345786 A>C), RS1010521388 (11:56344895 A>G,T), RS1011796093 (11:56344200 A>G), RS1013400580 (11:56345801 G>A,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
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Catechin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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