OR5C1

Summary

OR5C1 (olfactory receptor family 5 subfamily C member 1, HGNC:8331) is a protein-coding gene on chromosome 9q33.2, encoding Olfactory receptor 5C1 (Q8NGR4). 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 392391 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 64 total
• MANE Select transcript: NM_001001923

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8331
Approved symbol	OR5C1
Name	olfactory receptor family 5 subfamily C member 1
Location	9q33.2
Locus type	gene with protein product
Status	Approved
Aliases	OR9-F, hRPK-465_F_21
Ensembl gene	ENSG00000148215
Ensembl biotype	protein_coding
Entrez	392391

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000373680

RefSeq mRNA: 1 — MANE Select: NM_001001923 NM_001001923

CCDS: CCDS35131

Canonical transcript exons

ENST00000373680 — 1 exons

Exon	Start	End
ENSE00001461215	122788933	122789895

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 55.90.

FANTOM5 (CAGE): breadth broad, TPM avg 0.3720 / max 10.9284, expressed in 192 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
205610	0.3720	192

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	55.90	silver quality
colonic epithelium	UBERON:0000397	45.91	gold quality
calcaneal tendon	UBERON:0003701	43.07	gold quality
bone marrow cell	CL:0002092	42.54	gold quality
tonsil	UBERON:0002372	41.28	gold quality
stromal cell of endometrium	CL:0002255	40.11	gold quality
apex of heart	UBERON:0002098	37.93	silver quality
granulocyte	CL:0000094	37.53	gold quality
skeletal muscle tissue	UBERON:0001134	36.86	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	35.00	gold quality
corpus callosum	UBERON:0002336	34.93	gold quality
muscle tissue	UBERON:0002385	33.62	gold quality
urinary bladder	UBERON:0001255	32.83	gold quality
liver	UBERON:0002107	32.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
superior frontal gyrus	UBERON:0002661	30.44	gold quality
blood	UBERON:0000178	29.40	gold quality
lymph node	UBERON:0000029	28.96	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	28.05	gold quality
adrenal tissue	UBERON:0018303	27.77	gold quality
primary visual cortex	UBERON:0002436	27.74	gold quality
right coronary artery	UBERON:0001625	27.60	gold quality
monocyte	CL:0000576	27.45	gold quality
islet of Langerhans	UBERON:0000006	26.96	gold quality
endometrium	UBERON:0001295	26.57	gold quality
vermiform appendix	UBERON:0001154	26.42	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

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5c1	ENSMUSG00000049018
rattus_norvegicus	Or5c1	ENSRNOG00000008003

Paralogs (96): 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), OR8H2 (ENSG00000181767)

Protein

Protein identifiers

Olfactory receptor 5C1 — Q8NGR4 (reviewed: Q8NGR4)

Alternative names: Olfactory receptor 5C2, Olfactory receptor 9-F

All UniProt accessions (2): Q8NGR4, A0A126GW42

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_001001923* (*=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-Q8NGR4-F1	86.94	0.59

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): 101–193

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): 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

168 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5C1	C1orf167	Q5SNV9	692
OR5C1	KIAA0825	Q8IV33	648
OR5C1	PRSS54	Q6PEW0	598
OR5C1	KRTAP12-3	P60328	597
OR5C1	TMEM235	A6NFC5	542
OR5C1	GPR25	O00155	460
OR5C1	C1QTNF8	P60827	447
OR5C1	MRGPRF	Q96AM1	440
OR5C1	TAC4	Q86UU9	428
OR5C1	DLL1	O00548	413
OR5C1	DDI1	Q8WTU0	412
OR5C1	SPATA31D3	P0C874	403
OR5C1	ALPK3	Q96L96	390
OR5C1	SPATA31D4	Q6ZUB0	365
OR5C1	LHFPL6	Q9Y693	357

IntAct

3 interactions, top by confidence:

A	B	Type	Score
OR52B2	PCCA	psi-mi:“MI:0914”(association)	0.350
OR5C1	PTX3	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): OR5C1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), PTX3 (Affinity Capture-MS), BLK (Affinity Capture-MS), FAM81A (Affinity Capture-MS)

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

Diamond homologs: A6NL26, O95221, P0C617, P0C626, P0C7N1, P0C7N5, P0C7N8, P0DMU2, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60886, Q60893, Q60894, Q60895, Q6IEU7, Q6UXT6, Q7TR96, Q8N0Y5, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NGC0, Q8NGE9, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2, Q8NGG3, Q8NGG4, Q8NGG5, Q8NGG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

228 predictions. Top by Δscore:

Variant	Effect	Δscore
9:122789348:C:G	donor_gain	0.7400
9:122789241:CCAGA:C	acceptor_gain	0.6500
9:122789240:TCCAG:T	acceptor_gain	0.6300
9:122789783:T:TA	acceptor_gain	0.6300
9:122789830:G:GT	donor_gain	0.6200
9:122789779:ACCCT:A	acceptor_gain	0.6100
9:122789553:T:TA	acceptor_gain	0.6000
9:122789739:C:G	donor_gain	0.6000
9:122789577:GTT:G	donor_gain	0.5900
9:122789575:GT:G	donor_gain	0.5800
9:122789117:C:G	donor_gain	0.5600
9:122789243:AGATG:A	acceptor_gain	0.5500
9:122789694:GAT:G	donor_gain	0.5500
9:122789242:CAG:C	acceptor_gain	0.5400
9:122789668:G:GA	donor_gain	0.5400
9:122789697:G:GG	donor_gain	0.5400
9:122789574:GGT:G	donor_gain	0.5300
9:122789575:GTG:G	donor_gain	0.5300
9:122789576:TGT:T	donor_gain	0.5300
9:122789578:T:TG	donor_gain	0.5300
9:122789650:C:T	donor_gain	0.5300
9:122789667:T:TA	donor_gain	0.5200
9:122789717:T:G	acceptor_gain	0.5200
9:122789579:T:A	donor_gain	0.5100
9:122789117:C:CG	donor_gain	0.5000
9:122789398:GGGGC:G	donor_gain	0.4900
9:122789669:G:GG	donor_gain	0.4900
9:122789722:C:G	donor_gain	0.4900
9:122789642:G:T	donor_gain	0.4800
9:122789132:T:TA	acceptor_gain	0.4700

AlphaMissense

2059 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:122788978:T:C	F16L	0.925
9:122788980:C:A	F16L	0.925
9:122788980:C:G	F16L	0.925
9:122789446:T:C	F172L	0.916
9:122789448:C:A	F172L	0.916
9:122789448:C:G	F172L	0.916
9:122789473:T:C	F181L	0.907
9:122789475:C:A	F181L	0.907
9:122789475:C:G	F181L	0.907
9:122789434:T:C	F168L	0.901
9:122789436:C:A	F168L	0.901
9:122789436:C:G	F168L	0.901
9:122789254:T:C	F108L	0.879
9:122789256:T:A	F108L	0.879
9:122789256:T:G	F108L	0.879
9:122789056:A:C	S42R	0.843
9:122789058:C:A	S42R	0.843
9:122789058:C:G	S42R	0.843
9:122789476:T:C	F182L	0.843
9:122789478:C:A	F182L	0.843
9:122789478:C:G	F182L	0.843
9:122789713:T:C	F261L	0.837
9:122789715:C:A	F261L	0.837
9:122789715:C:G	F261L	0.837
9:122789815:A:C	S295R	0.810
9:122789817:C:A	S295R	0.810
9:122789817:C:G	S295R	0.810
9:122789773:T:C	F281L	0.804
9:122789775:C:A	F281L	0.804
9:122789775:C:G	F281L	0.804

dbSNP variants (sampled 300 via entrez): RS1000008912 (9:122788517 G>T), RS1001819480 (9:122788447 C>A), RS1003861514 (9:122787681 G>A,C), RS1003944152 (9:122787117 GA>G,GAA), RS1004392931 (9:122789974 G>A), RS1006065784 (9:122789113 A>G), RS1006612464 (9:122789211 A>G), RS1007207882 (9:122790199 T>C,G), RS1007736306 (9:122787644 CA>C), RS10115857 (9:122787689 T>A), RS1013480945 (9:122788759 G>C), RS1014256939 (9:122789484 T>C), RS1014437153 (9:122789706 A>G), RS1014542344 (9:122787703 G>A), RS1014672582 (9:122789726 GCC>G,GC)

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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1
Particulate Matter	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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