OR14L1

Summary

OR14L1 (olfactory receptor family 14 subfamily L member 1, HGNC:15023) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor 14L1 (Q8NHC6). 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 127617 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total — 2 pathogenic
• MANE Select transcript: NM_001396106

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15023
Approved symbol	OR14L1
Name	olfactory receptor family 14 subfamily L member 1
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198452
Ensembl biotype	protein_coding
Entrez	127617

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641545

RefSeq mRNA: 1 — MANE Select: NM_001396106 NM_001396106

CCDS: CCDS91192

Canonical transcript exons

ENST00000641545 — 2 exons

Exon	Start	End
ENSE00003812629	247617143	247617400
ENSE00003813605	247619622	247622372

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 53.42.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	53.42	gold quality
monocyte	CL:0000576	44.50	gold quality
leukocyte	CL:0000738	42.98	gold quality
sural nerve	UBERON:0015488	39.46	gold quality
urinary bladder	UBERON:0001255	38.16	gold quality
rectum	UBERON:0001052	37.89	silver quality
gall bladder	UBERON:0002110	37.61	gold quality
mucosa of transverse colon	UBERON:0004991	37.36	silver quality
lower esophagus mucosa	UBERON:0035834	37.31	gold quality
endometrium	UBERON:0001295	37.11	gold quality
adrenal tissue	UBERON:0018303	37.05	gold quality
fundus of stomach	UBERON:0001160	36.81	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow	UBERON:0002371	36.32	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.45	gold quality
skeletal muscle tissue	UBERON:0001134	34.93	gold quality
muscle tissue	UBERON:0002385	33.30	gold quality
liver	UBERON:0002107	33.27	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	32.80	silver quality
blood	UBERON:0000178	32.70	gold quality
cerebellum	UBERON:0002037	32.68	gold quality
cerebellar cortex	UBERON:0002129	32.53	gold quality
cerebellar hemisphere	UBERON:0002245	32.48	gold quality
tonsil	UBERON:0002372	31.78	gold quality
right lung	UBERON:0002167	31.31	gold quality
prostate gland	UBERON:0002367	30.90	gold quality
right hemisphere of cerebellum	UBERON:0014890	30.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.43

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 14L1 — Q8NHC6 (reviewed: Q8NHC6)

Alternative names: Olfactory receptor 5AV1

All UniProt accessions (1): Q8NHC6

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_001383035* (*=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 (16 total): topological domain 8, transmembrane region 7, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHC6-F1	83.46	0.43

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, 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, HMGA1_TARGET_GENES, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, GOBP_NERVOUS_SYSTEM_PROCESS

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

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NDH6, A6NDL8, A6NET4, A6NHG9, A6NKK0, A6NMS3, P0DN80, P23268, P34982, P35898, Q60887, Q60892, Q7TRF3, Q7TS48, Q8NG80, Q8NG85, Q8NGA0, Q8NGE2, Q8NGF7, Q8NGI8, Q8NGL4, Q8NGS5, Q8NGU1, Q8NGU2, Q8NGV6, Q8NGV7, Q8NGY2, Q8NGY6, Q8NGY9, Q8NH16, Q8NH92, Q8NHB7, Q8NHB8, Q8NHC5, Q8NHC6, Q8NHC7, Q8VEX5, Q8VEX6, Q8VF13, Q8VFB9

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	2
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	Pathogenic
60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2156 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000790449 (1:247620766 G>T), RS1001069442 (1:247618616 T>C), RS1001846304 (1:247621948 T>C), RS1002455389 (1:247615598 T>C), RS1002464866 (1:247622197 G>A), RS1002466883 (1:247619625 G>T), RS1002535504 (1:247620761 A>G), RS1002816313 (1:247615900 G>A), RS1003117459 (1:247618502 T>A), RS1003476255 (1:247618789 A>T), RS1003919247 (1:247621384 C>A), RS1004603918 (1:247616930 T>A), RS1004698635 (1:247616700 T>A), RS1004996655 (1:247621167 T>C,G), RS1005594232 (1:247622650 C>T)

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)

Clinical trials (associated diseases)

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