OR10C1

Summary

OR10C1 (olfactory receptor family 10 subfamily C member 1, HGNC:8165) is a protein-coding gene on chromosome 6p22.1, encoding Olfactory receptor 10C1 (Q96KK4). 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional.

Source: NCBI Gene 442194 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_013941

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8165
Approved symbol	OR10C1
Name	olfactory receptor family 10 subfamily C member 1
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	hs6M1-17, OR10C1P
Ensembl gene	ENSG00000206474
Ensembl biotype	protein_coding
Entrez	442194

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000444197, ENST00000622521

RefSeq mRNA: 1 — MANE Select: NM_013941 NM_013941

CCDS: CCDS34364

Canonical transcript exons

ENST00000377138 — 0 exons

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 42.18.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	42.18	gold quality
stromal cell of endometrium	CL:0002255	39.36	gold 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
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	34.82	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
urinary bladder	UBERON:0001255	29.76	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
tonsil	UBERON:0002372	28.64	gold quality
liver	UBERON:0002107	28.59	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	28.09	gold quality
leukocyte	CL:0000738	28.05	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.43	gold quality
vermiform appendix	UBERON:0001154	26.42	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
uterine cervix	UBERON:0000002	25.53	gold quality
muscle of leg	UBERON:0001383	24.88	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
pancreas	UBERON:0001264	24.39	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold 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	Or10c1	ENSMUSG00000049561
rattus_norvegicus	Or10c1	ENSRNOG00000029420

Paralogs (92): OR2B6 (ENSG00000124657), OR13C9 (ENSG00000136839), OR13C4 (ENSG00000148136), OR2M5 (ENSG00000162727), OR10A5 (ENSG00000166363), OR2D2 (ENSG00000166368), OR2B2 (ENSG00000168131), OR2C1 (ENSG00000168158), OR13J1 (ENSG00000168828), OR10G3 (ENSG00000169208), OR10A3 (ENSG00000170683), OR10A4 (ENSG00000170782), OR10A2 (ENSG00000170790), OR13H1 (ENSG00000171054), OR2K2 (ENSG00000171133), OR2M4 (ENSG00000171180), OR10H2 (ENSG00000171942), OR10H5 (ENSG00000172519), OR10AD1 (ENSG00000172640), OR2Y1 (ENSG00000174339), OR10AG1 (ENSG00000174970), OR2T1 (ENSG00000175143), OR10P1 (ENSG00000175398), OR2T35 (ENSG00000177151), OR2M7 (ENSG00000177186), OR2T12 (ENSG00000177201), OR2T33 (ENSG00000177212), OR2AJ1 (ENSG00000177275), OR2T8 (ENSG00000177462), OR2G3 (ENSG00000177476), OR2G2 (ENSG00000177489), OR2B11 (ENSG00000177535), OR2D3 (ENSG00000178358), OR13D1 (ENSG00000179055), OR10A7 (ENSG00000179919), OR2Z1 (ENSG00000181733), OR2V2 (ENSG00000182613), OR10G7 (ENSG00000182634), OR2T29 (ENSG00000182783), OR2T34 (ENSG00000183310)

Protein

Protein identifiers

Olfactory receptor 10C1 — Q96KK4 (reviewed: Q96KK4)

Alternative names: Hs6M1-17, Olfactory receptor 10C2

All UniProt accessions (3): Q96KK4, A0A087WY02, A0A126GV80

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. A stop codon at position Gln-55 in the gene coding for this protein is responsible for functional diversity thus producing a pseudogene. The stop codon is more frequent in African-Americans than in non-Africans.

Similarity. Belongs to the G-protein coupled receptor 1 family.

RefSeq proteins (1): NP_039229* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (30 total): sequence variant 12, 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-Q96KK4-F1	86.84	0.51

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): 96–188

Glycosylation sites (1): 4

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9752946	Expression and translocation of olfactory receptors

MSigDB gene sets: 31 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, KEGG_OLFACTORY_TRANSDUCTION, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, 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, ATF2_S_UP.V1_UP, ATF2_UP.V1_UP, GSE13411_NAIVE_VS_IGM_MEMORY_BCELL_UP, GSE13411_NAIVE_VS_SWITCHED_MEMORY_BCELL_UP

GO Biological Process (4): detection of chemical stimulus involved in sensory perception of smell (GO:0050911), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608)

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
sensory perception of smell	1
detection of chemical stimulus involved in sensory perception	1
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
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

256 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR10C1	MCCD1	P59942	488
OR10C1	PSORS1C1	Q9UIG5	462
OR10C1	SLC2A7	Q6PXP3	434
OR10C1	TMED8	Q6PL24	419
OR10C1	RFPL4A	A6NLU0	397
OR10C1	ZNF546	Q86UE3	396
OR10C1	HLA-DQB2	P05538	385
OR10C1	KIFC1	Q9BW19	377
OR10C1	MAS1L	P35410	371
OR10C1	UBQLN1	Q9UMX0	369
OR10C1	TSBP1	Q5SRN2	336
OR10C1	CATSPERG	Q6ZRH7	332
OR10C1	PRXL2B	Q8TBF2	327
OR10C1	ATAD2B	Q9ULI0	310
OR10C1	YY1AP1	Q9H869	307

IntAct

0 interactions, top by confidence:

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: 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

287 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29440519:C:CA	acceptor_gain	0.9900
6:29440517:T:TA	acceptor_gain	0.9200
6:29440520:G:A	acceptor_gain	0.9100
6:29440418:C:G	donor_gain	0.8900
6:29439650:G:GT	donor_gain	0.8800
6:29439995:A:AG	acceptor_gain	0.8500
6:29439996:G:GG	acceptor_gain	0.8500
6:29439682:G:GT	donor_gain	0.8400
6:29439517:C:G	donor_gain	0.8100
6:29439324:G:GT	donor_gain	0.7800
6:29439996:GTCAA:G	acceptor_gain	0.7800
6:29440433:T:A	donor_gain	0.7700
6:29440539:A:AG	acceptor_gain	0.7700
6:29440540:G:GG	acceptor_gain	0.7700
6:29440526:A:AG	acceptor_gain	0.7500
6:29439994:CAGT:C	acceptor_gain	0.7200
6:29439996:GT:G	acceptor_gain	0.7000
6:29440071:T:TA	acceptor_gain	0.6900
6:29440529:A:AG	acceptor_gain	0.6900
6:29439707:CCCAG:C	donor_loss	0.6700
6:29439708:CCAG:C	donor_loss	0.6700
6:29439709:CAGG:C	donor_loss	0.6700
6:29439710:AGGT:A	donor_loss	0.6700
6:29439711:GG:G	donor_loss	0.6700
6:29439712:GTAAA:G	donor_loss	0.6700
6:29439713:T:A	donor_loss	0.6700
6:29439722:A:T	donor_gain	0.6700
6:29439996:GTC:G	acceptor_gain	0.6600
6:29439992:TCCAG:T	acceptor_gain	0.6500
6:29440333:T:TA	acceptor_gain	0.6500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001117202 (6:29438263 CAAAG>C), RS1001466790 (6:29438829 G>C), RS1001510877 (6:29438491 G>T), RS1002328152 (6:29437803 A>T), RS1003533487 (6:29441135 A>G,T), RS1003810361 (6:29440403 C>T), RS1004664617 (6:29439149 T>C,G), RS1004732397 (6:29437331 A>G), RS1004812045 (6:29438056 G>A), RS1005207520 (6:29438455 C>A,T), RS1005879790 (6:29441250 A>T), RS1008292935 (6:29439595 A>C), RS1008598908 (6:29437898 A>C,G), RS1008608755 (6:29437598 T>A,C), RS1011542989 (6:29439220 G>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

19 associations (top):

Study	Trait	p-value
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_43	Autism spectrum disorder or schizophrenia	2.000000e-27
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_62	Autism spectrum disorder or schizophrenia	1.000000e-10
GCST008916_89	Asthma	2.000000e-10
GCST008921_5	Asthma and major depressive disorder	4.000000e-10
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
tebuconazole	decreases expression	1
Air Pollutants	affects methylation, increases abundance	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Ozone	affects methylation, increases abundance	1
Silicon Dioxide	increases expression	1
Asbestos, Crocidolite	affects expression	1
Particulate Matter	affects methylation, increases abundance	1

Clinical trials (associated diseases)

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