OR1C1

Summary

OR1C1 (olfactory receptor family 1 subfamily C member 1, HGNC:8182) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 1C1 (Q15619). 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 26188 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_012353

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8182
Approved symbol	OR1C1
Name	olfactory receptor family 1 subfamily C member 1
Location	1q44
Locus type	gene with protein product
Status	Approved
Aliases	TPCR27, HSTPCR27
Ensembl gene	ENSG00000221888
Ensembl biotype	protein_coding
Entrez	26188

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000408896, ENST00000641256

RefSeq mRNA: 1 — MANE Select: NM_012353 NM_012353

CCDS: CCDS41481

Canonical transcript exons

ENST00000641256 — 2 exons

Exon	Start	End
ENSE00003812494	247754846	247758419
ENSE00003813987	247760412	247760556

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 49.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of hip	UBERON:0001554	49.49	silver quality
sural nerve	UBERON:0015488	47.77	gold quality
colonic epithelium	UBERON:0000397	45.32	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
oviduct epithelium	UBERON:0004804	41.99	silver 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
palpebral conjunctiva	UBERON:0001812	41.10	gold 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
colonic mucosa	UBERON:0000317	39.86	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.93

Regulation

Is transcription factor: no

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), 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)

Protein

Protein identifiers

Olfactory receptor 1C1 — Q15619 (reviewed: Q15619)

Alternative names: Olfactory receptor OR1-42, Olfactory receptor TPCR27

All UniProt accessions (2): Q15619, A0A126GV94

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_036485* (*=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 conflict 2, chain 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15619-F1	87.60	0.57

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

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: 25 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, chr1q44, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, 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, GSE13485_CTRL_VS_DAY1_YF17D_VACCINE_PBMC_DN, GSE13485_DAY1_VS_DAY3_YF17D_VACCINE_PBMC_UP, GSE13485_DAY1_VS_DAY7_YF17D_VACCINE_PBMC_UP

GO Biological Process (4): signal transduction (GO:0007165), sensory perception of smell (GO:0007608), G protein-coupled receptor signaling pathway (GO:0007186), 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-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
sensory perception of chemical stimulus	1
G protein-coupled receptor activity	1
signal transduction	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

268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1C1	KRTAP5-11	Q6L8G4	573
OR1C1	TAAR5	O14804	514
OR1C1	KRTAP5-10	Q6L8G5	496
OR1C1	KRTAP5-7	Q6L8G8	448
OR1C1	CASP5	P51878	431
OR1C1	FAM89B	Q8N5H3	431
OR1C1	CIMAP1D	Q3SX64	430
OR1C1	RNF133	Q8WVZ7	419
OR1C1	RNF148	Q8N7C7	419
OR1C1	RTP1	P59025	413
OR1C1	ZSCAN16	Q9H4T2	392
OR1C1	KIAA1586	Q9HCI6	391
OR1C1	KRTAP5-5	Q701N2	391
OR1C1	ZNF417	Q8TAU3	390
OR1C1	ZNRD2	O60232	371
OR1C1	MRC1	P22897	371

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OR1C1	PPIB	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): OR1C1 (Proximity Label-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: A0A2R8YED5, O14581, O43749, O76099, O95221, P0C626, P0C7N1, P0C7N5, P0DN81, P23266, P23275, P30955, P47890, P58173, P58181, P59922, Q15617, Q15619, Q15622, Q60878, Q60881, Q60895, Q6IEU7, Q6UXT6, Q7TQQ0, Q7Z3T1, Q8N0Y5, Q8N146, Q8N162, Q8N628, Q8NG98, Q8NGA1, Q8NGC2, Q8NGE5, Q8NGF4, Q8NGF8, Q8NGG0, Q8NGG3, Q8NGG4, Q8NGG8

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	41
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

533 predictions. Top by Δscore:

Variant	Effect	Δscore
1:247758308:A:AC	donor_gain	0.8300
1:247758309:C:CC	donor_gain	0.8300
1:247758083:C:CT	acceptor_gain	0.7600
1:247757798:T:TA	donor_gain	0.7500
1:247757752:C:CT	acceptor_gain	0.7200
1:247757735:A:T	acceptor_gain	0.7100
1:247758085:C:CT	acceptor_gain	0.7100
1:247758117:CAGC:C	acceptor_gain	0.7000
1:247758233:A:AC	donor_gain	0.7000
1:247758120:CCTG:C	acceptor_loss	0.6900
1:247758121:C:CA	acceptor_loss	0.6900
1:247758122:T:A	acceptor_loss	0.6900
1:247758123:GCAAA:G	acceptor_loss	0.6900
1:247757753:A:C	acceptor_gain	0.6800
1:247758124:CAAAA:C	acceptor_loss	0.6800
1:247757803:C:CC	acceptor_gain	0.6700
1:247757725:TCTTC:T	acceptor_gain	0.6600
1:247758125:AAAAG:A	acceptor_loss	0.6600
1:247758126:AAAGA:A	acceptor_loss	0.6600
1:247757724:ATCTT:A	acceptor_gain	0.6500
1:247757758:A:C	acceptor_gain	0.6500
1:247758127:AAGAG:A	acceptor_loss	0.6400
1:247758128:AGAGA:A	acceptor_loss	0.6400
1:247758216:C:CC	acceptor_gain	0.6300
1:247758376:C:A	donor_gain	0.6300
1:247757752:C:T	acceptor_gain	0.6200
1:247757758:A:AC	acceptor_gain	0.6200
1:247758234:G:C	donor_gain	0.6200
1:247758309:CAG:C	donor_gain	0.6200
1:247757734:C:CT	acceptor_gain	0.6100

AlphaMissense

2062 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:247758371:G:C	F12L	0.937
1:247758371:G:T	F12L	0.937
1:247758373:A:G	F12L	0.937
1:247757903:G:C	F168L	0.918
1:247757903:G:T	F168L	0.918
1:247757905:A:G	F168L	0.918
1:247757654:A:C	F251L	0.905
1:247757654:A:T	F251L	0.905
1:247757656:A:G	F251L	0.905
1:247758071:G:C	S112R	0.888
1:247758071:G:T	S112R	0.888
1:247758073:T:G	S112R	0.888
1:247758053:C:A	M118I	0.868
1:247758053:C:G	M118I	0.868
1:247758053:C:T	M118I	0.868
1:247758193:A:G	C72R	0.867
1:247757873:G:C	F178L	0.833
1:247757873:G:T	F178L	0.833
1:247757875:A:G	F178L	0.833
1:247757876:G:C	F177L	0.827
1:247757876:G:T	F177L	0.827
1:247757878:A:G	F177L	0.827
1:247758281:G:C	N42K	0.823
1:247758281:G:T	N42K	0.823
1:247757962:A:G	W149R	0.822
1:247757962:A:T	W149R	0.822
1:247758044:A:C	D121E	0.810
1:247758044:A:T	D121E	0.810
1:247758045:T:G	D121A	0.810
1:247758051:G:T	A119E	0.809

dbSNP variants (sampled 300 via entrez): RS1000796558 (1:247759332 G>T), RS1001165001 (1:247759007 G>A,T), RS1001254662 (1:247755577 A>G), RS1002260751 (1:247759126 T>C), RS1002566568 (1:247760838 G>C), RS1002928347 (1:247757078 T>A,C), RS1003007787 (1:247760587 G>C), RS1003065652 (1:247756713 A>T), RS1003576818 (1:247761511 A>T), RS1004609644 (1:247754904 T>C), RS1004711400 (1:247761447 C>T), RS1005045447 (1:247755305 A>T), RS1005048490 (1:247761462 C>T), RS1005081009 (1:247761291 A>C,G), RS1005984781 (1:247755909 A>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): cryopyrin-associated periodic syndrome (MONDO:0016168)

Orphanet (1): NLRP3-associated autoinflammatory disease (Orphanet:208650)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D056587	Cryopyrin-Associated Periodic Syndromes	C16.320.382.500; C17.800.827.368.500; C17.800.862.945.533.500.500; C17.800.862.945.766.500; C20.543.480.904.533.500.500; C20.543.480.904.766.500; C23.550.291.500.360.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	2
Fulvestrant	decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Methotrexate	decreases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00685373	PHASE3	COMPLETED	Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
NCT00991146	PHASE3	COMPLETED	Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase
NCT01105507	PHASE3	COMPLETED	The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada
NCT01302860	PHASE3	COMPLETED	Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
NCT01576367	PHASE3	COMPLETED	Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
NCT03923140	PHASE2	UNKNOWN	A Clinical Study of Tranilast in the Treatment of Cryopyrin-Associated Periodic Syndrome (CAPS)
NCT04524858	PHASE2	TERMINATED	Study of ATI-450 in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS)
NCT05186051	PHASE2	COMPLETED	A Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ZYIL1 in Subjects With Cryopyrin Associated Periodic Syndromes (CAPS)
NCT05812781	PHASE2	COMPLETED	A Study to Evaluate VTX2735 in Patients With Cryopyrin-associated Periodic Syndrome
NCT04086602	PHASE1	COMPLETED	Safety and Tolerability, Pharmacokinetic and Pharmacodynamic Study With IZD334
NCT06974877	PHASE1	RECRUITING	Repeat PET/CT Imaging in People With CAPS and Anakinra-Induced Amyloidosis Using an Amyloid-Reactive Peptide to Measure Changes in Organ-Specific Amyloid Load
NCT02326376	Not specified	COMPLETED	Kineret CAPS Post Authorisation Study
NCT04856540	Not specified	COMPLETED	Adult Outcomes of Children With CAPS
NCT05292768	Not specified	NOT_YET_RECRUITING	Are Mast Cells Involved in Autoinflammatory Diseases
NCT06544018	Not specified	RECRUITING	Circadian Rhythm Deregulation in Patients With CAPS