OR7C1

Summary

OR7C1 (olfactory receptor family 7 subfamily C member 1, HGNC:8373) is a protein-coding gene on chromosome 19p13.1, encoding Olfactory receptor 7C1 (O76099). 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 26664 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_001370485

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8373
Approved symbol	OR7C1
Name	olfactory receptor family 7 subfamily C member 1
Location	19p13.1
Locus type	gene with protein product
Status	Approved
Aliases	OR19-5
Ensembl gene	ENSG00000127530
Ensembl biotype	protein_coding
Entrez	26664

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000248073, ENST00000601611, ENST00000641666, ENST00000642000, ENST00000642030, ENST00000672931

RefSeq mRNA: 2 — MANE Select: NM_001370485 NM_001370485, NM_198944

CCDS: CCDS12317

Canonical transcript exons

ENST00000641666 — 5 exons

Exon	Start	End
ENSE00003000577	14800533	14800764
ENSE00003116561	14809806	14809993
ENSE00003811842	14800256	14800444
ENSE00003978113	14798515	14800149
ENSE00003978114	14835074	14835185

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 75.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4442 / max 107.0013, expressed in 102 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179684	0.4442	102
179685	0.1487	37
179686	0.0299	17

Top tissues by expression

251 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	75.71	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.69	gold quality
buccal mucosa cell	CL:0002336	67.35	gold quality
ileal mucosa	UBERON:0000331	64.12	silver quality
adrenal tissue	UBERON:0018303	63.22	gold quality
tongue squamous epithelium	UBERON:0006919	61.37	gold quality
left adrenal gland cortex	UBERON:0035825	60.60	gold quality
adenohypophysis	UBERON:0002196	60.11	gold quality
pituitary gland	UBERON:0000007	59.89	gold quality
right adrenal gland	UBERON:0001233	58.90	gold quality
left adrenal gland	UBERON:0001234	58.69	gold quality
adrenal cortex	UBERON:0001235	58.50	gold quality
right testis	UBERON:0004534	57.57	gold quality
right adrenal gland cortex	UBERON:0035827	57.14	gold quality
adrenal gland	UBERON:0002369	57.10	gold quality
testis	UBERON:0000473	57.06	gold quality
skin of leg	UBERON:0001511	56.80	gold quality
stromal cell of endometrium	CL:0002255	56.71	gold quality
left testis	UBERON:0004533	56.02	gold quality
skin of abdomen	UBERON:0001416	55.77	gold quality
gingival epithelium	UBERON:0001949	54.59	gold quality
myocardium	UBERON:0002349	54.52	gold quality
zone of skin	UBERON:0000014	54.40	gold quality
tibialis anterior	UBERON:0001385	54.18	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	54.13	gold quality
colonic epithelium	UBERON:0000397	53.89	gold quality
leukocyte	CL:0000738	53.38	gold quality
prostate gland	UBERON:0002367	52.81	gold quality
monocyte	CL:0000576	52.62	silver quality
mononuclear cell	CL:0000842	52.59	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-75688	yes	118.74
E-CURD-112	yes	7.68
E-ANND-3	yes	7.39
E-MTAB-9543	yes	5.63

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (130): OR1I1 (ENSG00000094661), OR12D3 (ENSG00000112462), OR7A10 (ENSG00000127515), OR7C2 (ENSG00000127529), OR1E2 (ENSG00000127780), OR1J1 (ENSG00000136834), OR1L4 (ENSG00000136939), OR4D1 (ENSG00000141194), OR4K1 (ENSG00000155249), OR3A3 (ENSG00000159961), OR7G1 (ENSG00000161807), OR1Q1 (ENSG00000165202), OR1K1 (ENSG00000165204), 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 7C1 — O76099 (reviewed: O76099)

Alternative names: Olfactory receptor 7C4, Olfactory receptor OR19-16, Olfactory receptor TPCR86

All UniProt accessions (2): O76099, A0A126GWU6

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 (2): NP_001357414, NP_945182 (=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O76099-F1	88.02	0.60

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: 56 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_MALE_GAMETE_GENERATION, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, chr19p13, GOMF_OLFACTORY_RECEPTOR_ACTIVITY, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, 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, MYC_UP.V1_UP

GO Biological Process (5): signal transduction (GO:0007165), spermatogenesis (GO:0007283), 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), protein binding (GO:0005515)

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
developmental process involved in reproduction	1
male gamete generation	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

274 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR7C1	A0A0G2JP48	A0A0G2JP48	419
OR7C1	ACSM6	Q6P461	348
OR7C1	MSLNL	Q96KJ4	348
OR7C1	ZSWIM1	Q9BR11	329
OR7C1	RNF175	Q8N4F7	324
OR7C1	SIRPD	Q9H106	323
OR7C1	DNAJB8	Q8NHS0	314
OR7C1	TPGS1	Q6ZTW0	305
OR7C1	TAS2R42	Q7RTR8	300
OR7C1	A0A0B4J1T7	A0A0B4J1T7	292
OR7C1	TRIM48	Q8IWZ4	292
OR7C1	CNGA2	Q16280	290
OR7C1	EPPIN	O95925	290
OR7C1	CYLC1	P35663	289
OR7C1	OSGIN2	Q9Y236	288

IntAct

8 interactions, top by confidence:

A	B	Type	Score
OR7C1	YJU2	psi-mi:“MI:0915”(physical association)	0.590
OR7C1	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	OR7C1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (3): CCDC94 (Affinity Capture-MS), CCDC94 (Affinity Capture-MS), CCDC94 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8YED5, A6NM03, O14581, O60412, O76099, O95006, O95047, O95371, P34982, P34984, P47884, P58170, Q15619, Q15622, Q5TZ20, Q60883, Q60887, Q60891, Q6IFH4, Q7Z3T1, Q8N628, Q8NG84, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA1, Q8NGA2, Q8NGQ5, Q8NGR9, Q8NGS1, Q8NGS2, Q8NGS3, Q8NGV0, Q8NGW1, Q8NGX1, Q8NH06, Q8NH80, Q8NHA4, Q95157

Diamond homologs: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O60412, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P23270, P23275, P58173, P58180, P58182, Q15615, Q60878, Q60881, Q60888, Q6IEV9, Q6IEY1, Q6IF82, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8N628, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

723 predictions. Top by Δscore:

Variant	Effect	Δscore
19:14828255:C:CC	acceptor_gain	0.9900
19:14828251:GTGA:G	acceptor_gain	0.9800
19:14828252:TGA:T	acceptor_gain	0.9800
19:14828259:C:CT	acceptor_gain	0.9800
19:14829562:A:T	acceptor_gain	0.9800
19:14835069:CTCA:C	donor_loss	0.9800
19:14835070:TCA:T	donor_loss	0.9800
19:14835071:CA:C	donor_loss	0.9800
19:14835073:C:G	donor_loss	0.9800
19:14828250:AGTGA:A	acceptor_gain	0.9700
19:14828253:GA:G	acceptor_gain	0.9700
19:14835068:ACT:A	donor_loss	0.9700
19:14835072:A:AC	donor_gain	0.9700
19:14835073:C:CC	donor_gain	0.9700
19:14828260:A:T	acceptor_gain	0.9600
19:14833976:CAGG:C	donor_gain	0.9500
19:14835067:AACTC:A	donor_loss	0.9500
19:14828253:GAC:G	acceptor_loss	0.9400
19:14828254:AC:A	acceptor_loss	0.9400
19:14828256:T:A	acceptor_loss	0.9400
19:14835101:T:TA	donor_gain	0.9400
19:14833317:A:T	acceptor_gain	0.9300
19:14833316:C:CT	acceptor_gain	0.9200
19:14830452:G:T	donor_gain	0.8900
19:14833312:C:G	acceptor_gain	0.8600
19:14834926:A:AC	donor_gain	0.8600
19:14833975:A:AC	donor_gain	0.8500
19:14833976:C:CC	donor_gain	0.8500
19:14834948:A:AC	donor_gain	0.8400
19:14835066:CAACT:C	donor_loss	0.8400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000049959 (19:14820201 T>C), RS1000090018 (19:14817790 A>C,G), RS1000244047 (19:14835080 G>A), RS1000554452 (19:14825888 C>T), RS1000689685 (19:14809561 A>G), RS1000697793 (19:14801132 T>C), RS1000741516 (19:14809343 A>C,G), RS1000751571 (19:14828985 C>A,T), RS1000797825 (19:14824393 T>C), RS1000895993 (19:14832715 G>A), RS1000938386 (19:14815231 A>G), RS1000992358 (19:14807164 G>T), RS1001055187 (19:14821330 A>G), RS1001238942 (19:14836726 A>G), RS1001268630 (19:14837047 A>G)

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
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Niclosamide	increases expression	1
Asbestos, Crocidolite	affects expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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