OR13H1

Summary

OR13H1 (olfactory receptor family 13 subfamily H member 1, HGNC:14755) is a protein-coding gene on chromosome Xq26.2, encoding Olfactory receptor 13H1 (Q8NG92). 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 347468 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_001004486

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14755
Approved symbol	OR13H1
Name	olfactory receptor family 13 subfamily H member 1
Location	Xq26.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171054
Ensembl biotype	protein_coding
Entrez	347468

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000338616

RefSeq mRNA: 1 — MANE Select: NM_001004486 NM_001004486

CCDS: CCDS35396

Canonical transcript exons

ENST00000338616 — 1 exons

Exon	Start	End
ENSE00001382266	131544074	131545000

Expression profiles

Bgee: expression breadth not_expressed, 0 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	37.20	gold quality
granulocyte	CL:0000094	37.15	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
placenta	UBERON:0001987	31.84	silver quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
urinary bladder	UBERON:0001255	29.21	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.38	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
leukocyte	CL:0000738	25.38	gold quality
muscle of leg	UBERON:0001383	25.00	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
uterine cervix	UBERON:0000002	24.59	gold quality
monocyte	CL:0000576	24.52	gold quality
pancreas	UBERON:0001264	24.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or13ae2	ENSMUSG00000051706

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), 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), OR2T10 (ENSG00000184022)

Protein

Protein identifiers

Olfactory receptor 13H1 — Q8NG92 (reviewed: Q8NG92)

Alternative names: Olfactory receptor ORX-1

All UniProt accessions (2): Q8NG92, A0A126GW70

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_001004486* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (19 total): topological domain 8, transmembrane region 7, chain 1, glycosylation site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NG92-F1	87.20	0.52

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): 97–188

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: 18 (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, chrXq26, 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): 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

144 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR13H1	HCRT	O43612	783
OR13H1	HCRTR1	O43613	643
OR13H1	OXR1	Q8N573	507
OR13H1	HCRTR2	O43614	480
OR13H1	SIX6	O95475	474
OR13H1	NPS	P0C0P6	446
OR13H1	IGSF1	Q8N6C5	419
OR13H1	RTP1	P59025	394
OR13H1	SIX5	Q8N196	371
OR13H1	SIX1	Q15475	370
OR13H1	HRCT1	Q6UXD1	322
OR13H1	SIX3	O95343	317
OR13H1	LRCH2	Q5VUJ6	317
OR13H1	CRH	P06850	308
OR13H1	CNR2	P34972	305

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A3KFT3, P0C628, P34982, P34985, P37068, P37071, Q15612, Q60879, Q8N146, Q8N162, Q8N349, Q8NG80, Q8NG81, Q8NG83, Q8NG85, Q8NG92, Q8NG95, Q8NGA1, Q8NGC7, Q8NGC8, Q8NGC9, Q8NGE0, Q8NGG4, Q8NGI8, Q8NGQ6, Q8NGS4, Q8NGY6, Q8NGY9, Q8NGZ0, Q8NGZ9, Q8NH16, Q8NH74, Q8NHA4, Q8NHB7, Q8NHC8, Q8VEX5, Q8VFR8, Q8VFV4, Q8VFX2, Q8VGI4

Diamond homologs: A3KFT3, A4D2G3, A6NH00, A6NL26, O43869, O76000, O76001, O76002, O95006, O95371, O95918, P0C626, P0C629, P0DN81, P23266, P23275, P30955, P34984, P58173, P58181, P59922, P70526, Q13606, Q13607, Q5TZ20, Q60883, Q60890, Q60894, Q6IF42, Q7TQQ0, Q7TR96, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG84, Q8NG92, Q8NGA1, Q8NGE3, Q8NGE5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

279 predictions. Top by Δscore:

Variant	Effect	Δscore
X:131544095:GCAGT:G	donor_gain	0.7100
X:131544098:GT:G	donor_gain	0.7100
X:131544097:A:AG	donor_gain	0.6800
X:131544170:A:G	donor_gain	0.6800
X:131544095:G:GT	donor_gain	0.6500
X:131544608:G:GC	acceptor_gain	0.6500
X:131544724:C:G	acceptor_gain	0.6400
X:131544160:A:G	donor_gain	0.6200
X:131544100:GTTTC:G	donor_gain	0.6100
X:131544106:G:GG	donor_gain	0.6100
X:131544723:A:AG	acceptor_gain	0.6100
X:131544102:TTC:T	donor_gain	0.6000
X:131544105:A:AG	donor_gain	0.5900
X:131544725:ATAC:A	acceptor_gain	0.5900
X:131544100:GTT:G	donor_gain	0.5800
X:131544101:TTT:T	donor_gain	0.5800
X:131544197:A:T	donor_gain	0.5800
X:131544725:A:AG	acceptor_gain	0.5800
X:131544726:T:G	acceptor_gain	0.5800
X:131544143:A:T	donor_gain	0.5700
X:131544491:G:GG	donor_gain	0.5700
X:131544359:C:CA	acceptor_gain	0.5500
X:131544401:GCAGA:G	acceptor_gain	0.5400
X:131544728:C:CA	acceptor_gain	0.5400
X:131544196:G:GT	donor_gain	0.5300
X:131544264:G:GG	donor_gain	0.5300
X:131544605:TGTG:T	acceptor_gain	0.5300
X:131544607:TG:T	acceptor_gain	0.5300
X:131544562:G:GC	acceptor_gain	0.5200
X:131544811:G:GA	donor_gain	0.5200

AlphaMissense

2014 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:131544107:T:C	F12L	0.890
X:131544109:T:A	F12L	0.890
X:131544109:T:G	F12L	0.890
X:131544599:T:C	F176L	0.818
X:131544601:T:A	F176L	0.818
X:131544601:T:G	F176L	0.818
X:131544821:T:C	F250L	0.781
X:131544823:C:A	F250L	0.781
X:131544823:C:G	F250L	0.781
X:131544572:T:C	F167L	0.771
X:131544574:C:A	F167L	0.771
X:131544574:C:G	F167L	0.771
X:131544108:T:C	F12S	0.681
X:131544377:A:C	S102R	0.669
X:131544379:T:A	S102R	0.669
X:131544379:T:G	S102R	0.669
X:131544155:T:C	F28L	0.656
X:131544157:C:A	F28L	0.656
X:131544157:C:G	F28L	0.656
X:131544518:T:A	W149R	0.644
X:131544518:T:C	W149R	0.644
X:131544182:A:C	S37R	0.642
X:131544184:C:A	S37R	0.642
X:131544184:C:G	S37R	0.642
X:131544254:T:C	F61L	0.638
X:131544256:C:A	F61L	0.638
X:131544256:C:G	F61L	0.638
X:131544108:T:G	F12C	0.618
X:131544677:A:C	S202R	0.617
X:131544679:T:A	S202R	0.617

dbSNP variants (sampled 300 via entrez): RS1000629230 (X:131544469 T>C), RS1004858110 (X:131545361 A>G), RS1005514690 (X:131543290 A>G), RS1009651171 (X:131545155 C>T), RS1011737838 (X:131542443 A>C), RS1012453913 (X:131543474 C>T), RS1015817750 (X:131545420 C>T), RS1018223456 (X:131545276 C>CTA), RS1019896269 (X:131542567 T>C), RS1020571994 (X:131545185 T>C), RS1025661112 (X:131542911 T>C), RS1025685554 (X:131543199 A>C), RS1030605482 (X:131543597 T>C), RS1034843229 (X:131542953 T>A), RS1035083047 (X:131544631 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

3 associations (top):

Study	Trait	p-value
GCST003993_29	Menarche (age at onset)	7.000000e-12
GCST003994_13	Age at voice drop	2.000000e-10
GCST90000050_85	Age at first birth	5.000000e-14

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0007888	age at voice drop
EFO:0009101	age at first birth measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	increases reaction, affects binding	1
Sunitinib	decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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