OR14I1

Summary

OR14I1 (olfactory receptor family 14 subfamily I member 1, HGNC:19575) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 14I1 (A6ND48). 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 401994 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001004734

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19575
Approved symbol	OR14I1
Name	olfactory receptor family 14 subfamily I member 1
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000189181
Ensembl biotype	protein_coding
OMIM	618516
Entrez	401994

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000342623, ENST00000695265, ENST00000905078

RefSeq mRNA: 1 — MANE Select: NM_001004734 NM_001004734

CCDS: CCDS31125

Canonical transcript exons

ENST00000695265 — 5 exons

Exon	Start	End
ENSE00003962789	248685452	248685566
ENSE00003962790	248678138	248682324
ENSE00004026968	248702703	248702766
ENSE00004026969	248698847	248698905
ENSE00004026970	248701911	248702005

Expression profiles

Bgee: expression breadth broad, 26 present calls, max score 85.51.

Top tissues by expression

128 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	85.51	gold quality
prefrontal cortex	UBERON:0000451	64.49	gold quality
frontal cortex	UBERON:0001870	54.76	gold quality
superior frontal gyrus	UBERON:0002661	45.42	gold quality
cerebral cortex	UBERON:0000956	44.13	gold quality
primary visual cortex	UBERON:0002436	43.92	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	43.58	gold quality
Brodmann (1909) area 9	UBERON:0013540	43.12	gold quality
right frontal lobe	UBERON:0002810	42.69	gold quality
bone marrow cell	CL:0002092	38.54	gold quality
granulocyte	CL:0000094	37.43	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
anterior cingulate cortex	UBERON:0009835	33.82	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.96	gold quality
brain	UBERON:0000955	32.43	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
lymph node	UBERON:0000029	30.31	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
nucleus accumbens	UBERON:0001882	29.76	gold quality
caudate nucleus	UBERON:0001873	29.21	gold quality
liver	UBERON:0002107	28.33	gold quality
placenta	UBERON:0001987	28.30	silver quality
duodenum	UBERON:0002114	28.14	gold quality
adult mammalian kidney	UBERON:0000082	27.66	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.06

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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 14I1 — A6ND48 (reviewed: A6ND48)

Alternative names: Olfactory receptor 5BU1

All UniProt accessions (1): A6ND48

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_001004734* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR000725	Olfact_rcpt	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR050516	Olfactory_GPCR	Family

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 5, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6ND48-F1	82.81	0.42

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): 95–188

Glycosylation sites (1): 3

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, chr1q44, 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

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 (4): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984), odorant binding (GO:0005549), protein binding (GO:0005515)

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
binding	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
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR14I1	PDGFRA	P16234	662
OR14I1	NRP2	O60462	634
OR14I1	BSG	P35613	623
OR14I1	EGFR	P00533	454
OR14I1	THBD	P07204	340
OR14I1	CD46	P15529	324
OR14I1	APMAP	Q9HDC9	313
OR14I1	ANXA2	P07355	273
OR14I1	TAS2R14	Q9NYV8	266
OR14I1	VN1R4	Q7Z5H5	248
OR14I1	NRG2	O14511	223
OR14I1	VN1R2	Q8NFZ6	223
OR14I1	THY1	P04216	214
OR14I1	CD151	P48509	185
OR14I1	VN1R1	Q9GZP7	181

IntAct

5 interactions, top by confidence:

A	B	Type	Score
OR14I1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.560
OR14I1	S100A10	psi-mi:“MI:0915”(physical association)	0.400
OR14I1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (3): OR14I1 (Two-hybrid), S100A10 (Proximity Label-MS), OR14I1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A2R8YED5, A6ND48, B2RN74, O60412, O76099, O76100, O95047, P23271, P23272, P34982, P37069, P37072, P47884, P47890, P58170, Q15622, Q60879, Q8NG84, Q8NG94, Q8NG95, Q8NG98, Q8NG99, Q8NGA0, Q8NGA2, Q8NGE0, Q8NGG1, Q8NGL0, Q8NGP2, Q8NGS2, Q8NGW1, Q8NGZ2, Q8NGZ5, Q8NH06, Q8NH07, Q8NH80, Q8NHA4, Q8NHC7, Q8VEY3, Q8VFC9, Q8WZA6

Diamond homologs: A4D2G3, A6ND48, A6NL26, O43749, O60412, O76099, P0C7N5, P0DMU2, P0DN82, P23265, P23266, P23269, P23272, P23273, P23274, P30953, P30955, P34984, P34985, P34986, P35896, P47887, P47890, P58173, P58181, P58182, P70526, Q0VAX9, Q13606, Q13607, Q15617, Q15619, Q60893, Q6IFN5, Q6UXT6, Q7TQQ0, Q7TRF3, Q8N127, Q8NG98, Q8NGA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

408 predictions. Top by Δscore:

Variant	Effect	Δscore
1:248681982:G:C	donor_gain	0.7900
1:248682022:AG:A	donor_gain	0.7900
1:248682023:G:C	donor_gain	0.7600
1:248681986:A:C	acceptor_gain	0.7400
1:248682023:G:GA	donor_gain	0.7200
1:248682075:G:C	donor_gain	0.6900
1:248682133:A:AC	donor_gain	0.6900
1:248682134:C:CC	donor_gain	0.6900
1:248681651:T:C	acceptor_gain	0.6800
1:248681639:C:CT	acceptor_gain	0.6700
1:248682265:C:CA	donor_gain	0.6500
1:248681942:A:C	acceptor_gain	0.6400
1:248681983:CAGA:C	acceptor_gain	0.6300
1:248682062:A:AC	donor_gain	0.6300
1:248682063:C:CC	donor_gain	0.6300
1:248682094:A:AC	donor_gain	0.6300
1:248682156:T:C	donor_gain	0.6300
1:248681651:T:TC	acceptor_gain	0.6200
1:248681862:A:AC	donor_gain	0.6200
1:248682059:G:C	donor_gain	0.6200
1:248682247:C:CA	donor_gain	0.6200
1:248682251:G:C	donor_gain	0.6200
1:248681618:T:TA	donor_gain	0.6100
1:248681945:G:C	donor_gain	0.6100
1:248681979:TCA:T	acceptor_gain	0.6100
1:248682084:A:AC	donor_gain	0.6100
1:248682085:C:CC	donor_gain	0.6100
1:248682188:C:A	donor_gain	0.6100
1:248681908:CGGCT:C	acceptor_gain	0.5800
1:248681911:CT:C	acceptor_gain	0.5800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000321247 (1:248700775 C>A), RS1000611870 (1:248682737 T>A,C), RS1000659224 (1:248694458 A>G), RS1000765208 (1:248679034 T>C), RS1000925921 (1:248684890 T>C), RS1000940034 (1:248683039 T>C), RS1001003089 (1:248699140 A>C), RS1001140766 (1:248691193 C>CT), RS1001309060 (1:248678614 A>G), RS1001440965 (1:248679610 T>A,C), RS1001481941 (1:248696468 G>A), RS1001669643 (1:248701704 C>A), RS1001744535 (1:248696745 G>A,C,T), RS1001849576 (1:248700854 G>T), RS1001933425 (1:248695775 C>T)

Disease associations

OMIM: gene MIM:618516 | 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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
MT19c compound	decreases expression, increases expression	1
Amiodarone	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1

Clinical trials (associated diseases)

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