OR5H1

Summary

OR5H1 (olfactory receptor family 5 subfamily H member 1, HGNC:8346) is a protein-coding gene on chromosome 3q11.2, encoding Olfactory receptor 5H1 (A6NKK0). 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 26341 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_001005338

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8346
Approved symbol	OR5H1
Name	olfactory receptor family 5 subfamily H member 1
Location	3q11.2
Locus type	gene with protein product
Status	Approved
Aliases	HTPCRX14, HSHTPCRX14
Ensembl gene	ENSG00000231192
Ensembl biotype	protein_coding
Entrez	26341

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641874

RefSeq mRNA: 1 — MANE Select: NM_001005338 NM_001005338

CCDS: CCDS33797

Canonical transcript exons

ENST00000641874 — 2 exons

Exon	Start	End
ENSE00003812512	98130721	98130850
ENSE00003814282	98132680	98138548

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 44.45.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium	UBERON:0001295	44.45	silver quality
right uterine tube	UBERON:0001302	44.39	silver quality
bone marrow cell	CL:0002092	42.36	gold quality
skeletal muscle tissue	UBERON:0001134	42.10	gold quality
primary visual cortex	UBERON:0002436	40.98	gold quality
ventricular zone	UBERON:0003053	39.78	gold quality
lymph node	UBERON:0000029	39.29	gold quality
placenta	UBERON:0001987	38.44	silver quality
hindlimb stylopod muscle	UBERON:0004252	38.43	gold quality
muscle tissue	UBERON:0002385	37.47	gold quality
leukocyte	CL:0000738	37.42	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.13	gold quality
monocyte	CL:0000576	36.64	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
blood	UBERON:0000178	36.07	gold quality
adult mammalian kidney	UBERON:0000082	36.01	gold quality
bone marrow	UBERON:0002371	36.01	gold quality
granulocyte	CL:0000094	35.87	gold quality
spleen	UBERON:0002106	35.72	gold quality
sural nerve	UBERON:0015488	35.10	gold quality
vermiform appendix	UBERON:0001154	34.78	gold quality
urinary bladder	UBERON:0001255	34.70	gold quality
liver	UBERON:0002107	34.69	gold quality
mucosa of transverse colon	UBERON:0004991	34.15	gold quality
tonsil	UBERON:0002372	33.80	gold quality
left uterine tube	UBERON:0001303	32.84	gold quality
muscle of leg	UBERON:0001383	32.84	gold quality
superior frontal gyrus	UBERON:0002661	32.08	gold quality
gastrocnemius	UBERON:0001388	32.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	23.79
E-MTAB-9388	yes	12.84
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or5h19	ENSMUSG00000043357
mus_musculus	Or5h18	ENSMUSG00000047960
mus_musculus	Or5h25	ENSMUSG00000060057
mus_musculus	Or5h17	ENSMUSG00000062105
mus_musculus	Or5h22	ENSMUSG00000064006
mus_musculus	Or5h23	ENSMUSG00000094539
mus_musculus	Or5h26	ENSMUSG00000096695
rattus_norvegicus	Or5h18	ENSRNOG00000066195
rattus_norvegicus	Or5h25b	ENSRNOG00000071849
rattus_norvegicus	Or5h25	ENSRNOG00000073369
rattus_norvegicus	Or5h17b	ENSRNOG00000073471
rattus_norvegicus	Or5h25d	ENSRNOG00000073651
rattus_norvegicus	Or5h27b	ENSRNOG00000075854
rattus_norvegicus	Or5h26b	ENSRNOG00000077075
rattus_norvegicus		ENSRNOG00000077444
rattus_norvegicus	Or5h24b	ENSRNOG00000079937
rattus_norvegicus	Or5h17c	ENSRNOG00000084393
rattus_norvegicus	Or5h26	ENSRNOG00000085701
rattus_norvegicus	Or5h17	ENSRNOG00000087735
rattus_norvegicus	Or5h24	ENSRNOG00000090523

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 5H1 — A6NKK0 (reviewed: A6NKK0)

Alternative names: HTPCRX14

All UniProt accessions (2): A6NKK0, A0A126GW79

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_001005338* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF13853

UniProt features (23 total): topological domain 8, transmembrane region 7, sequence variant 4, chain 1, glycosylation site 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NKK0-F1	87.61	0.64

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): 97–179

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: 25 (showing top): GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, 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, MEF2C_TARGET_GENES, REACTOME_SENSORY_PERCEPTION, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_1H_ACT_CD4_TCELL_UP, 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

202 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR5H1	PHGR1	C9JFL3	479
OR5H1	SPDYC	Q5MJ68	472
OR5H1	CCDC178	Q5BJE1	447
OR5H1	FAM184A	Q8NB25	432
OR5H1	HAUS1	Q96CS2	419
OR5H1	RBM46	Q8TBY0	416
OR5H1	CATSPER4	Q7RTX7	402
OR5H1	PLPPR1	Q8TBJ4	370
OR5H1	GXYLT1	Q4G148	370
OR5H1	CDC42EP1	Q00587	369
OR5H1	TAF6L	Q9Y6J9	368
OR5H1	ARMC9	Q7Z3E5	367
OR5H1	ZNF687	Q8N1G0	359
OR5H1	RIT1	Q92963	359
OR5H1	HSPBAP1	Q96EW2	349

IntAct

5 interactions, top by confidence:

A	B	Type	Score
MOB2	OR5H1	psi-mi:“MI:0915”(physical association)	0.560
OR5H1	MOB2	psi-mi:“MI:0915”(physical association)	0.560
OR5H1	RBFOX3	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): OR5H1 (Two-hybrid), ATP5G2 (Affinity Capture-MS), RBFOX3 (Affinity Capture-MS), SLC4A2 (Affinity Capture-MS), ATG9A (Affinity Capture-MS), RHBDD1 (Affinity Capture-MS), FAM63A (Affinity Capture-MS), TBC1D24 (Affinity Capture-MS)

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: A6NDH6, A6NET4, A6NHG9, A6NKK0, A6NL26, A6NMS3, O95221, P0C626, P0C628, P0C7N1, P0C7N5, P0DMU2, P0DN80, P34985, P37068, P37070, P37071, P37072, Q13606, Q15617, Q15620, Q60880, Q60882, Q60884, Q60886, Q60893, Q60894, Q6UXT6, Q7TS48, Q8N127, Q8N146, Q8N162, Q8NG75, Q8NG78, Q8NGC0, Q8NGF4, Q8NGF7, Q8NGG0, Q8NGG1, Q8NGG2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

244 predictions. Top by Δscore:

Variant	Effect	Δscore
3:98132961:GA:G	donor_gain	0.9700
3:98132957:C:G	donor_gain	0.9500
3:98132963:G:GG	donor_gain	0.9500
3:98132848:A:T	donor_gain	0.9300
3:98132873:T:G	donor_gain	0.8700
3:98133151:G:GA	donor_gain	0.8300
3:98132728:GA:G	donor_gain	0.7600
3:98132794:G:GG	donor_gain	0.7500
3:98133150:T:TA	donor_gain	0.7400
3:98133369:A:AG	acceptor_gain	0.7400
3:98132789:TCTTG:T	donor_loss	0.7300
3:98132790:CTTGG:C	donor_loss	0.7300
3:98132791:TTGGT:T	donor_loss	0.7300
3:98132792:TGGTA:T	donor_loss	0.7300
3:98132793:GG:G	donor_loss	0.7300
3:98132795:T:C	donor_loss	0.7300
3:98132767:A:T	donor_gain	0.7200
3:98132878:T:G	donor_gain	0.7200
3:98132796:A:C	donor_loss	0.7100
3:98132730:G:GG	donor_gain	0.6800
3:98132992:A:G	donor_gain	0.6800
3:98133145:G:GG	donor_gain	0.6800
3:98133304:TCAGG:T	acceptor_gain	0.6600
3:98132729:A:AG	donor_gain	0.6500
3:98132744:G:GT	donor_gain	0.6300
3:98133305:CAGGT:C	acceptor_gain	0.6300
3:98133152:G:GG	donor_gain	0.6200
3:98133449:ACTAT:A	acceptor_gain	0.6100
3:98132960:AGA:A	donor_gain	0.6000
3:98132961:GAG:G	donor_gain	0.6000

AlphaMissense

2046 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:98133325:A:C	S210R	0.919
3:98133327:C:A	S210R	0.919
3:98133327:C:G	S210R	0.919
3:98133199:T:C	F168L	0.908
3:98133201:C:A	F168L	0.908
3:98133201:C:G	F168L	0.908
3:98132731:T:C	F12L	0.868
3:98132733:T:A	F12L	0.868
3:98132733:T:G	F12L	0.868
3:98133062:G:C	R122P	0.861
3:98133016:A:C	S107R	0.839
3:98133018:T:A	S107R	0.839
3:98133018:T:G	S107R	0.839
3:98133568:A:C	S291R	0.809
3:98133570:T:A	S291R	0.809
3:98133570:T:G	S291R	0.809
3:98133053:C:A	A119E	0.790
3:98133051:G:A	M118I	0.780
3:98133051:G:C	M118I	0.780
3:98133051:G:T	M118I	0.780
3:98133074:T:A	I126K	0.772
3:98133555:T:A	N286K	0.772
3:98133555:T:G	N286K	0.772
3:98132788:T:C	F31L	0.771
3:98132790:C:A	F31L	0.771
3:98132790:C:G	F31L	0.771
3:98133060:T:A	D121E	0.766
3:98133060:T:G	D121E	0.766
3:98133059:A:C	D121A	0.757
3:98133576:A:C	R293S	0.755

dbSNP variants (sampled 300 via entrez): RS1000260541 (3:98133790 G>A), RS1000333685 (3:98133240 T>A), RS1000668771 (3:98138896 T>C), RS1000861781 (3:98137575 T>G), RS1001160130 (3:98137917 C>T), RS1001594000 (3:98136272 G>A), RS1001820729 (3:98132525 T>C), RS1002203163 (3:98133863 A>G), RS1002435851 (3:98136433 C>T), RS1002654872 (3:98130181 T>C,G), RS1002730836 (3:98131640 G>A,T), RS1003202895 (3:98133890 T>A), RS1004020240 (3:98139000 A>G,T), RS1004230976 (3:98133571 CTG>C), RS1004345768 (3:98128764 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)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	1
Methotrexate	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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