OR5K1

Summary

OR5K1 (olfactory receptor family 5 subfamily K member 1, HGNC:8349) is a protein-coding gene on chromosome 3q11.2, encoding Olfactory receptor 5K1 (Q8NHB7). 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 26339 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 66 total
• Druggable target: yes
• MANE Select transcript: NM_001004736

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8349
Approved symbol	OR5K1
Name	olfactory receptor family 5 subfamily K member 1
Location	3q11.2
Locus type	gene with protein product
Status	Approved
Aliases	HTPCRX10, HSHTPCRX10
Ensembl gene	ENSG00000232382
Ensembl biotype	protein_coding
Entrez	26339

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000332650, ENST00000642057

RefSeq mRNA: 1 — MANE Select: NM_001004736 NM_001004736

CCDS: CCDS43115

Canonical transcript exons

ENST00000642057 — 2 exons

Exon	Start	End
ENSE00003813088	98469566	98472924
ENSE00003813279	98463201	98463307

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 45.30.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	45.30	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
tendon	UBERON:0000043	43.27	silver quality
skin of hip	UBERON:0001554	42.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	42.70	silver quality
secondary oocyte	CL:0000655	42.57	gold quality
sural nerve	UBERON:0015488	42.02	gold quality
oviduct epithelium	UBERON:0004804	41.51	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
skeletal muscle tissue	UBERON:0001134	41.26	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
apex of heart	UBERON:0002098	41.06	silver quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.95

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5k1	ENSMUSG00000049362
mus_musculus	Or5k1b	ENSMUSG00000071510

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 5K1 — Q8NHB7 (reviewed: Q8NHB7)

Alternative names: HTPCRX10, Olfactory receptor OR3-8

All UniProt accessions (2): Q8NHB7, A0A126GWC1

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_001004736* (*=MANE)

Domains & families (InterPro)

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

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-Q8NHB7-F1	89.36	0.71

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): 97–189

Glycosylation sites (1): 5

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: 18 (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): 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-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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5K1	TAS2R14	Q9NYV8	372
OR5K1	BOD1L1	Q8NFC6	370
OR5K1	TAS2R38	P59533	359
OR5K1	HERC4	Q5GLZ8	351
OR5K1	CHRM4	P08173	351
OR5K1	B3GALT4	O96024	348
OR5K1	CHRM1	P11229	347
OR5K1	RTP1	P59025	321
OR5K1	SSH2	Q76I76	317
OR5K1	RHO	P08100	239
OR5K1	GABRG2	P18507	232
OR5K1	ABL2	P42684	213
OR5K1	TAS1R2	Q8TE23	210
OR5K1	RTP2	Q5QGT7	209
OR5K1	CHRM2	P08172	203

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, A6NM03, O43869, O76000, O76001, O76002, O95006, O95221, O95371, O95918, P0C7N1, P0C7T2, P23274, P23275, P34984, P59922, Q13606, Q13607, Q5TZ20, Q60880, Q60890, Q6IEZ7, Q6IF00, Q8N127, Q8N349, Q8N628, Q8NG75, Q8NG76, Q8NG77, Q8NG80, Q8NG81, Q8NG83, Q8NG84, Q8NG85, Q8NG97, Q8NGC0, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

130 predictions. Top by Δscore:

Variant	Effect	Δscore
3:98469868:GC:G	donor_gain	0.6500
3:98469871:G:GG	donor_gain	0.6100
3:98469870:A:AG	donor_gain	0.5900
3:98469752:T:G	donor_gain	0.5600
3:98469767:G:T	donor_gain	0.5500
3:98470316:C:A	donor_gain	0.5300
3:98469849:G:GT	donor_gain	0.5200
3:98470053:T:G	donor_gain	0.5000
3:98469643:C:G	donor_gain	0.4900
3:98469818:T:G	donor_gain	0.4900
3:98470418:T:TA	donor_gain	0.4900
3:98470419:A:AA	donor_gain	0.4900
3:98469767:G:GT	donor_gain	0.4800
3:98469605:A:G	donor_gain	0.4700
3:98470255:AAAAT:A	acceptor_gain	0.4700
3:98469688:ACCGT:A	donor_gain	0.4500
3:98469753:G:GG	donor_gain	0.4500
3:98469757:A:G	donor_gain	0.4400
3:98469873:AC:A	donor_gain	0.4400
3:98469605:A:AG	donor_gain	0.4300
3:98469693:G:GA	donor_gain	0.4300
3:98469708:T:G	donor_gain	0.4300
3:98469663:G:GA	donor_gain	0.4200
3:98469714:G:GA	donor_gain	0.4200
3:98470255:A:AG	acceptor_gain	0.4100
3:98469698:GGAA:G	donor_gain	0.4000
3:98469768:A:T	donor_gain	0.4000
3:98469803:C:CG	donor_gain	0.4000
3:98469821:T:A	donor_gain	0.4000
3:98469823:G:GT	donor_gain	0.4000

AlphaMissense

2037 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:98469941:G:C	R122P	0.942
3:98469610:T:C	F12L	0.941
3:98469612:T:A	F12L	0.941
3:98469612:T:G	F12L	0.941
3:98470078:T:C	F168L	0.939
3:98470080:C:A	F168L	0.939
3:98470080:C:G	F168L	0.939
3:98470447:A:C	S291R	0.939
3:98470449:C:A	S291R	0.939
3:98470449:C:G	S291R	0.939
3:98469953:T:A	I126K	0.922
3:98469611:T:C	F12S	0.919
3:98469939:C:A	D121E	0.903
3:98469939:C:G	D121E	0.903
3:98469938:A:C	D121A	0.900
3:98469930:G:A	M118I	0.898
3:98469930:G:C	M118I	0.898
3:98469930:G:T	M118I	0.898
3:98470105:T:C	F177L	0.897
3:98470107:T:A	F177L	0.897
3:98470107:T:G	F177L	0.897
3:98470434:T:A	N286K	0.892
3:98470434:T:G	N286K	0.892
3:98469706:A:C	S44R	0.890
3:98469708:T:A	S44R	0.890
3:98469708:T:G	S44R	0.890
3:98470213:A:C	S213R	0.889
3:98470215:T:A	S213R	0.889
3:98470215:T:G	S213R	0.889
3:98469931:G:C	A119P	0.882

dbSNP variants (sampled 300 via entrez): RS1000102268 (3:98472544 A>G), RS1000305541 (3:98472710 G>A), RS1001395077 (3:98464587 G>A,C), RS1001551429 (3:98469454 G>A,T), RS1001575271 (3:98471373 G>A), RS1001633543 (3:98464292 C>A), RS1002176442 (3:98471060 C>T), RS1002305841 (3:98470150 C>A,T), RS1002389724 (3:98468845 G>A), RS1002669591 (3:98466846 G>A,T), RS1002744117 (3:98468572 A>G), RS1002756604 (3:98472939 A>C,G), RS1003131657 (3:98467512 T>A,C), RS1003573390 (3:98469153 G>T), RS1003604396 (3:98461815 T>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
GCST012490_614	Femur bone mineral density x serum urate levels interaction	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3721312 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3734176	Functional	Antagonist activity at human OR5K1 expressed in HEK293 cells assessed as inhibition of 2,6-dimethylpyrazine-induced response at 100 uM by luciferase reporter gene assay	Agent for inhibiting odor of pyrazine derivatives

Clinical trials (associated diseases)

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