OR1F1

Summary

OR1F1 (olfactory receptor family 1 subfamily F member 1, HGNC:8194) is a protein-coding gene on chromosome 16p13.3, encoding Olfactory receptor 1F1 (O43749). 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 4992 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 84 total
• MANE Select transcript: NM_001370640

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8194
Approved symbol	OR1F1
Name	olfactory receptor family 1 subfamily F member 1
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145
Ensembl gene	ENSG00000168124
Ensembl biotype	protein_coding
OMIM	603232
Entrez	4992

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000304646, ENST00000576468, ENST00000652759, ENST00000903483, ENST00000938262

RefSeq mRNA: 4 — MANE Select: NM_001370640 NM_001370639, NM_001370640, NM_001370641, NM_012360

CCDS: CCDS10496

Canonical transcript exons

ENST00000304646 — 4 exons

Exon	Start	End
ENSE00002636691	3189749	3189798
ENSE00003848572	3188204	3188479
ENSE00003998073	3204235	3206556
ENSE00003998145	3191238	3191337

Expression profiles

Bgee: expression breadth broad, 43 present calls, max score 86.74.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
type B pancreatic cell	CL:0000169	86.74	gold quality
olfactory bulb	UBERON:0002264	86.36	gold quality
epithelial cell of pancreas	CL:0000083	80.07	gold quality
diaphragm	UBERON:0001103	79.76	gold quality
pancreatic ductal cell	CL:0002079	79.68	silver quality
hair follicle	UBERON:0002073	77.51	gold quality
thymus	UBERON:0002370	74.92	gold quality
tibialis anterior	UBERON:0001385	74.76	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	74.34	gold quality
male germ cell	CL:0000015	72.24	silver quality
CA1 field of hippocampus	UBERON:0003881	72.04	gold quality
epithelium of nasopharynx	UBERON:0001951	71.70	gold quality
mucosa of urinary bladder	UBERON:0001259	71.38	gold quality
gingival epithelium	UBERON:0001949	71.35	gold quality
sperm	CL:0000019	70.62	silver quality
nipple	UBERON:0002030	70.45	gold quality
cervix squamous epithelium	UBERON:0006922	70.35	gold quality
deltoid	UBERON:0001476	69.97	silver quality
gingiva	UBERON:0001828	69.96	gold quality
dorsal plus ventral thalamus	UBERON:0001897	69.66	gold quality
cerebellar vermis	UBERON:0004720	69.58	gold quality
vena cava	UBERON:0004087	69.45	silver quality
quadriceps femoris	UBERON:0001377	69.26	gold quality
cardia of stomach	UBERON:0001162	69.08	gold quality
pharyngeal mucosa	UBERON:0000355	68.94	silver quality
saphenous vein	UBERON:0007318	68.91	gold quality
upper arm skin	UBERON:0004263	68.87	gold quality
subthalamic nucleus	UBERON:0001906	68.84	gold quality
trachea	UBERON:0003126	68.83	gold quality
superior surface of tongue	UBERON:0007371	68.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or1f19	ENSMUSG00000051003
rattus_norvegicus	Or1f20e	ENSRNOG00000047259
rattus_norvegicus	Or1f19f	ENSRNOG00000049118
rattus_norvegicus	Or1f20b	ENSRNOG00000071382
rattus_norvegicus	Or1f31	ENSRNOG00000071445
rattus_norvegicus	Or1f45	ENSRNOG00000071545
rattus_norvegicus		ENSRNOG00000074000
rattus_norvegicus	Or1f19e	ENSRNOG00000074334
rattus_norvegicus	Or1f21b	ENSRNOG00000074959
rattus_norvegicus	Or1f27	ENSRNOG00000076423
rattus_norvegicus	Or1f20d	ENSRNOG00000078152
rattus_norvegicus		ENSRNOG00000081644
rattus_norvegicus	Or1f21	ENSRNOG00000084140
rattus_norvegicus	Or1f29l1	ENSRNOG00000084441
rattus_norvegicus	Or1f29	ENSRNOG00000086251
rattus_norvegicus	Or1f30	ENSRNOG00000086548
rattus_norvegicus	Or1f32	ENSRNOG00000086932
rattus_norvegicus	Or1f19	ENSRNOG00000087002
rattus_norvegicus	Or1f21c	ENSRNOG00000088404
rattus_norvegicus	Or1f26	ENSRNOG00000089067

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), 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 1F1 — O43749 (reviewed: O43749)

Alternative names: Olfactory receptor 16-35, Olfactory receptor 1F10, Olfactory receptor 1F4, Olfactory receptor 1F5, Olfactory receptor 1F6, Olfactory receptor 1F7, Olfactory receptor 1F8, Olfactory receptor 1F9, Olfactory receptor OR16-4

All UniProt accessions (1): O43749

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 (4): NP_001357568, NP_001357569, NP_001357570, NP_036492 (=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (22 total): topological domain 8, transmembrane region 7, sequence variant 2, sequence conflict 2, chain 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43749-F1	86.00	0.50

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

1 pathways

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

MSigDB gene sets: 30 (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, YOSHIMURA_MAPK8_TARGETS_UP, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_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, SRC_UP.V1_UP, IL21_UP.V1_DN

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 (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
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

244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR1F1	ZNF205	O95201	887
OR1F1	ZNF200	P98182	854
OR1F1	MEFV	O15553	774
OR1F1	KRTAP5-7	Q6L8G8	474
OR1F1	ZNF213	O14771	447
OR1F1	TIGD7	Q6NT04	447
OR1F1	NPIPB13	A6NJU9	431
OR1F1	ZNF75A	Q96N20	418
OR1F1	CSTL1	Q9H114	400
OR1F1	SLC25A47	Q6Q0C1	377
OR1F1	MIR9-1HG	Q13536	348
OR1F1	EHMT2	Q96KQ7	335
OR1F1	DIRAS2	Q96HU8	325
OR1F1	CELF5	Q8N6W0	321
OR1F1	OPRPN	P85047	321
OR1F1	CMTM8	Q8IZV2	321

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A4D2G3, O43749, O76001, O76002, O76100, O95006, P0DMU2, P23266, P23269, P23272, P23274, P30953, P30955, P58173, P59922, P70526, Q13607, Q15619, Q60890, Q6UXT6, Q8N148, Q8N628, Q8NGA6, Q8NGL2, Q8NGS0, Q8NGS2, Q8NGX8, Q8NGZ4, Q8NGZ5, Q8NGZ6, Q8NH04, Q8VGI1, Q8VGK5, Q8VGR9, Q95156, Q96R09, Q96R47, Q96R48, Q96R84, Q9GZK6

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

338 predictions. Top by Δscore:

Variant	Effect	Δscore
16:3224611:CTG:C	acceptor_gain	1.0000
16:3224614:C:CC	acceptor_gain	1.0000
16:3224607:TTGA:T	acceptor_gain	0.9900
16:3224608:TGA:T	acceptor_gain	0.9900
16:3224609:GACTG:G	acceptor_gain	0.9900
16:3224610:ACTG:A	acceptor_loss	0.9900
16:3224612:TG:T	acceptor_gain	0.9900
16:3224613:GCTGA:G	acceptor_loss	0.9900
16:3224615:T:A	acceptor_loss	0.9900
16:3224620:C:CT	acceptor_gain	0.9900
16:3224609:GA:G	acceptor_loss	0.9800
16:3224610:AC:A	acceptor_loss	0.9800
16:3224611:C:CA	acceptor_loss	0.9800
16:3224612:T:G	acceptor_loss	0.9800
16:3224621:A:T	acceptor_gain	0.9800
16:3224610:ACTGC:A	acceptor_gain	0.9700
16:3224611:CTGCT:C	acceptor_gain	0.9700
16:3224606:ATTGA:A	acceptor_gain	0.9400
16:3224613:G:C	acceptor_loss	0.9100
16:3224698:G:C	donor_gain	0.8200
16:3224699:C:CT	donor_gain	0.8200
16:3224700:C:CT	donor_gain	0.8000
16:3204563:T:G	acceptor_gain	0.7800
16:3204387:GTCC:G	donor_gain	0.7700
16:3224696:CAG:C	donor_gain	0.7200
16:3204848:G:GG	donor_gain	0.6900
16:3204696:G:GC	donor_gain	0.6800
16:3224690:ATG:A	donor_gain	0.6800
16:3204388:TCCG:T	donor_loss	0.6400
16:3204389:CCGT:C	donor_loss	0.6400

AlphaMissense

2057 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:3204280:T:C	F12L	0.851
16:3204282:C:A	F12L	0.851
16:3204282:C:G	F12L	0.851
16:3204748:T:C	F168L	0.807
16:3204750:C:A	F168L	0.807
16:3204750:C:G	F168L	0.807
16:3204997:T:C	F251L	0.706
16:3204999:C:A	F251L	0.706
16:3204999:C:G	F251L	0.706
16:3204775:T:C	F177L	0.662
16:3204777:C:A	F177L	0.662
16:3204777:C:G	F177L	0.662
16:3204613:T:C	F123L	0.647
16:3204615:T:A	F123L	0.647
16:3204615:T:G	F123L	0.647
16:3204778:T:C	F178L	0.632
16:3204780:C:A	F178L	0.632
16:3204780:C:G	F178L	0.632
16:3204958:T:C	F238L	0.605
16:3204960:C:A	F238L	0.605
16:3204960:C:G	F238L	0.605
16:3204526:T:C	F94L	0.584
16:3204528:C:A	F94L	0.584
16:3204528:C:G	F94L	0.584
16:3205108:T:C	F288L	0.570
16:3205110:C:A	F288L	0.570
16:3205110:C:G	F288L	0.570
16:3204337:T:C	F31L	0.566
16:3204339:C:A	F31L	0.566
16:3204339:C:G	F31L	0.566

dbSNP variants (sampled 300 via entrez): RS1000145116 (16:3205541 G>A), RS1000168001 (16:3190396 A>G), RS1000181587 (16:3194247 A>G), RS1000184328 (16:3190716 A>G), RS1000296663 (16:3187072 G>A), RS1000391188 (16:3187194 G>A,T), RS1000417231 (16:3186904 C>T), RS1000516855 (16:3205325 AT>A,ATT), RS1000535766 (16:3202873 C>T), RS1000554721 (16:3197023 T>C), RS1000629290 (16:3188143 G>A,C), RS1000651764 (16:3195071 A>G), RS1000676092 (16:3193289 G>A), RS1000686818 (16:3190191 C>T), RS1000709969 (16:3193133 G>A,C)

Disease associations

OMIM: gene MIM:603232 | disease phenotypes: MIM:142623

GenCC curated gene-disease

Mondo (1): Hirschsprung disease, susceptibility to, 1 (MONDO:0007723)

Orphanet (1): Hirschsprung disease (Orphanet:388)

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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	increases expression	1
Endosulfan	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Valproic Acid	affects expression	1
Asbestos, Crocidolite	affects expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00630838	PHASE2	COMPLETED	Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC)
NCT01985646	EARLY_PHASE1	COMPLETED	A Trial on Conservative Treatment for Infants’ Hirschsprung Disease
NCT00478712	Not specified	RECRUITING	Hirschsprung Disease Genetic Study
NCT01515501	Not specified	COMPLETED	Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01927809	Not specified	UNKNOWN	Genetic Mosaicism in Hirschsprung’s Disease
NCT02193685	Not specified	UNKNOWN	Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease
NCT02216994	Not specified	UNKNOWN	A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis –a Prospective Study
NCT02296008	Not specified	COMPLETED	3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders
NCT02776176	Not specified	UNKNOWN	Enhanced Recovery After Surgery In Hirschsprung Disease
NCT02857205	Not specified	COMPLETED	MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung’s Associated EnteroColitis
NCT03269812	Not specified	UNKNOWN	Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease
NCT03666767	Not specified	COMPLETED	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT04020939	Not specified	COMPLETED	The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery.
NCT04106947	Not specified	UNKNOWN	Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations
NCT04149093	Not specified	UNKNOWN	The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease
NCT04150120	Not specified	COMPLETED	eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness
NCT04213976	Not specified	UNKNOWN	Ostomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis
NCT04476225	Not specified	COMPLETED	Induced Pluripotent Stem Cells for Disease Research
NCT04598841	Not specified	COMPLETED	Nutrition Support for Hirschsprung Disease
NCT04622410	Not specified	RECRUITING	Registry for Hirschsprung Disease of the BELAPS
NCT04624334	Not specified	TERMINATED	Non-invasive Assessment of Colonic Motility
NCT04730128	Not specified	COMPLETED	Translation and Validation of a Disease-specific Questionnaire for Hirschsprung’s Disease in Danish Patients
NCT04837963	Not specified	COMPLETED	Does Hirschsprung Disease Increase the Risk of Febrile Urinary Tract Infection in Children
NCT04957667	Not specified	COMPLETED	Scintigraphic Defecography for Evaluation of Functional Outcome in an Adult Hirschsprung Population
NCT05038345	Not specified	TERMINATED	Hirschsprung Disease Trends in the United States: Analysis of the National Inpatient Sample
NCT05044741	Not specified	COMPLETED	Risk Factors of Perforated HSCR in Neonates
NCT05293353	Not specified	UNKNOWN	Neokare Safety and Tolerability Assessment in Neonates With GI Problems
NCT05307419	Not specified	UNKNOWN	Full Thickness vs. Rectal Suction Biopsy in the Diagnosis of Hirschsprungs Disease
NCT05450991	Not specified	RECRUITING	Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung’s Disease and Anorectal Malformations
NCT05655845	Not specified	UNKNOWN	Risk Factors for Bowel Dysfunction at Preschool and Early Childhood Age in Children With Hirschsprung Disease
NCT06072976	Not specified	RECRUITING	The Influence of Feeding Source on the Gut Microbiome and Time to Full Feeds in Neonates With Congenital Gastrointestinal Pathologies
NCT06197061	Not specified	UNKNOWN	Comparison of Robot-assisted With Laparoscopic-assisted Modified Soave Procedure for Classical Hirschsprung Disease
NCT06573723	Not specified	RECRUITING	Institutional Registry of Rare Diseases
NCT06590142	Not specified	RECRUITING	Hirschsprung’s Advances; Working Towards Autologous tIssue therapIes
NCT06592534	Not specified	NOT_YET_RECRUITING	Babies With Enterocolitis - A Study of Faecal Calprotectin in Hirschsprung Disease (The BEACH Study)
NCT06650683	Not specified	RECRUITING	Impact of Providing Nursing Support on Parental Stress Related to Preoperative Care of a Newborn with Hirschsprung’s Disease