OR9H1

Summary

OR9H1 (olfactory receptor family 9 subfamily H member 1 (gene/pseudogene), HGNC:15038) is a protein-coding gene on chromosome 1q44, encoding Olfactory receptor OR9H1 (Q6UXT6). 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 81439 — RefSeq curated summary.

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15038
Approved symbol	OR9H1
Name	olfactory receptor family 9 subfamily H member 1 (gene/pseudogene)
Location	1q44
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000228336
Ensembl biotype	protein_coding
Entrez	81439

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_LoF, 1 protein_coding_CDS_not_defined

ENST00000446393, ENST00000641506

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000446393 — 2 exons

Exon	Start	End
ENSE00001785519	247774723	247779524
ENSE00003812546	247770169	247770254

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 73.88.

Top tissues by expression

129 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	73.88	gold quality
colonic epithelium	UBERON:0000397	61.95	silver quality
bone marrow cell	CL:0002092	56.31	gold quality
sural nerve	UBERON:0015488	48.82	gold quality
bone marrow	UBERON:0002371	45.27	gold quality
skeletal muscle tissue	UBERON:0001134	44.00	gold quality
muscle tissue	UBERON:0002385	42.11	gold quality
tonsil	UBERON:0002372	41.59	gold quality
ventricular zone	UBERON:0003053	39.87	gold quality
stromal cell of endometrium	CL:0002255	38.78	gold quality
ganglionic eminence	UBERON:0004023	38.78	gold quality
liver	UBERON:0002107	37.12	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
calcaneal tendon	UBERON:0003701	36.27	gold quality
uterine cervix	UBERON:0000002	35.46	gold quality
endometrium	UBERON:0001295	35.16	gold quality
monocyte	CL:0000576	34.10	gold quality
mucosa of transverse colon	UBERON:0004991	33.89	gold quality
leukocyte	CL:0000738	33.52	gold quality
primary visual cortex	UBERON:0002436	33.48	gold quality
fundus of stomach	UBERON:0001160	33.46	gold quality
myometrium	UBERON:0001296	32.89	gold quality
smooth muscle tissue	UBERON:0001135	32.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
body of pancreas	UBERON:0001150	31.75	gold quality
mucosa of stomach	UBERON:0001199	31.75	gold quality
right uterine tube	UBERON:0001302	31.53	gold quality
thoracic mammary gland	UBERON:0005200	31.29	gold quality
pancreas	UBERON:0001264	31.08	gold quality
cortex of kidney	UBERON:0001225	31.04	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.42
E-ENAD-17	no	50.00
E-GEOD-99795	no	6.32

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or9s18	ENSMUSG00000049806
rattus_norvegicus	Or9s18	ENSRNOG00000073716

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 OR9H1 — Q6UXT6 (reviewed: Q6UXT6)

Alternative names: Olfactory receptor family 9 subfamily H member 1

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Function. Odorant receptor.

Subcellular location. Cell membrane.

Polymorphism. The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a missense variant p.Cys232Arg and a nonsense variant creating stop codon at position 233 in the reference genome, leading to the synthesis of a truncated protein. This gene is a pseudogene on the reference genome but has been found to be protein coding in some individuals.

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

RefSeq proteins (0): (*=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, sequence variant 2, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXT6-F1	88.72	0.58

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): 95–177

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (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_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, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, GOMF_MOLECULAR_TRANSDUCER_ACTIVITY, GOBP_NERVOUS_SYSTEM_PROCESS

GO Biological Process (0):

GO Molecular Function (2): G protein-coupled receptor activity (GO:0004930), olfactory receptor activity (GO:0004984)

GO Cellular Component (1): plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane signaling receptor activity	2
G protein-coupled receptor signaling pathway	1
detection of chemical stimulus involved in sensory perception of smell	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

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: A0A096LPK9, A0A0X1KG70, A6NHA9, A6NMZ5, O76099, O95013, P0C604, P0C623, P0C645, P0DN82, P58180, Q13606, Q15615, Q60878, Q60881, Q60888, Q60893, Q6IEV9, Q6IEY1, Q6IF82, Q6UXT6, Q7TQQ0, Q8IXE1, Q8N0Y3, Q8NGA1, Q8NGA8, Q8NGB2, Q8NGB4, Q8NGB6, Q8NGB8, Q8NGB9, Q8NGC2, Q8NGC3, Q8NGC4, Q8NGC6, Q8NGD0, Q8NGD1, Q8NGD2, Q8NGD3, Q8NGD4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000401347 (1:247768660 G>T), RS1000434636 (1:247768265 A>G), RS1000439404 (1:247775188 C>T), RS1000480392 (1:247769865 A>C), RS1000571588 (1:247776093 T>A,C), RS1000642843 (1:247774956 A>T), RS1000764651 (1:247770142 T>C), RS1000836631 (1:247774943 C>T), RS1000888707 (1:247775220 T>C), RS1001359532 (1:247775243 C>G), RS1001494682 (1:247777753 T>C), RS1001653289 (1:247777528 C>T), RS1001787732 (1:247769178 A>G), RS1001979939 (1:247768966 A>G), RS1002038292 (1:247771492 C>G)

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)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
titanium dioxide	increases expression	1

Clinical trials (associated diseases)

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