OR10Z1

Summary

OR10Z1 (olfactory receptor family 10 subfamily Z member 1, HGNC:14996) is a protein-coding gene on chromosome 1q23.1, encoding Olfactory receptor 10Z1 (Q8NGY1). 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 128368 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 100 total — 3 likely-pathogenic
• MANE Select transcript: NM_001004478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14996
Approved symbol	OR10Z1
Name	olfactory receptor family 10 subfamily Z member 1
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198967
Ensembl biotype	protein_coding
Entrez	128368

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000641002

RefSeq mRNA: 1 — MANE Select: NM_001004478 NM_001004478

CCDS: CCDS30901

Canonical transcript exons

ENST00000641002 — 2 exons

Exon	Start	End
ENSE00003811554	158606326	158612514
ENSE00003813752	158605268	158605401

Expression profiles

Bgee: expression breadth broad, 36 present calls, max score 79.89.

Top tissues by expression

108 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	79.89	gold quality
bone marrow	UBERON:0002371	69.53	gold quality
bone marrow cell	CL:0002092	62.39	silver quality
cortical plate	UBERON:0005343	57.47	gold quality
nucleus accumbens	UBERON:0001882	53.41	gold quality
putamen	UBERON:0001874	52.91	gold quality
Brodmann (1909) area 9	UBERON:0013540	52.32	gold quality
prefrontal cortex	UBERON:0000451	52.09	gold quality
caudate nucleus	UBERON:0001873	51.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	51.48	gold quality
anterior cingulate cortex	UBERON:0009835	51.09	gold quality
temporal lobe	UBERON:0001871	50.56	gold quality
amygdala	UBERON:0001876	50.56	gold quality
cerebral cortex	UBERON:0000956	50.34	gold quality
frontal cortex	UBERON:0001870	49.84	gold quality
Ammon’s horn	UBERON:0001954	49.38	gold quality
primary visual cortex	UBERON:0002436	49.16	silver quality
superior frontal gyrus	UBERON:0002661	49.02	gold quality
brain	UBERON:0000955	48.13	gold quality
hypothalamus	UBERON:0001898	47.63	gold quality
right frontal lobe	UBERON:0002810	46.74	gold quality
cerebellar cortex	UBERON:0002129	46.67	silver quality
cerebellar hemisphere	UBERON:0002245	46.66	silver quality
cerebellum	UBERON:0002037	46.54	silver quality
ganglionic eminence	UBERON:0004023	45.45	gold quality
right hemisphere of cerebellum	UBERON:0014890	45.40	gold quality
substantia nigra	UBERON:0002038	45.36	gold quality
gastrocnemius	UBERON:0001388	44.39	silver quality
blood	UBERON:0000178	43.45	gold quality
ventricular zone	UBERON:0003053	43.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.22

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Or10z1	ENSMUSG00000050788
rattus_norvegicus	Or10z1	ENSRNOG00000077839

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), OR1F1 (ENSG00000168124), 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)

Protein

Protein identifiers

Olfactory receptor 10Z1 — Q8NGY1 (reviewed: Q8NGY1)

Alternative names: Olfactory receptor OR1-15

All UniProt accessions (2): A0A126GV63, Q8NGY1

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_001004478* (*=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-Q8NGY1-F1	85.94	0.57

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: 17 (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, 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, REACTOME_SENSORY_PERCEPTION, GOBP_DETECTION_OF_CHEMICAL_STIMULUS, chr1q23

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 (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)

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
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

132 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OR10Z1	KRTAP12-3	P60328	643
OR10Z1	TMEM235	A6NFC5	582
OR10Z1	C1QTNF8	P60827	506
OR10Z1	SPATA31D3	P0C874	447
OR10Z1	SPATA31D4	Q6ZUB0	399
OR10Z1	LHFPL6	Q9Y693	397
OR10Z1	ASIC4	Q96FT7	380
OR10Z1	FMO1	Q01740	364
OR10Z1	PDE1C	Q14123	331
OR10Z1	SSTR4	P31391	322
OR10Z1	GSTM4	Q03013	319
OR10Z1	GRIN3B	O60391	305
OR10Z1	GALNT3	Q14435	272
OR10Z1	SPTA1	P02549	261
OR10Z1	PRSS3	P15951	257

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NH00, O60403, O95371, O95918, P23266, P23267, P23275, P34984, P47881, P47888, P47893, Q15619, Q5JQS5, Q5TZ20, Q60885, Q60891, Q60894, Q6IEZ7, Q7Z3T1, Q8N628, Q8NG76, Q8NG77, Q8NG97, Q8NGA6, Q8NGC4, Q8NGE3, Q8NGE9, Q8NGQ2, Q8NGQ4, Q8NGR4, Q8NGS0, Q8NGT9, Q8NGX9, Q8NGY1, Q8NGZ6, Q8NH02, Q8NH03, Q8NH04, Q8NHB1, Q8VGD6

Diamond homologs: A6NCV1, A6NDL8, A6NF89, A6NIJ9, A6NJZ3, A6NL08, A6NL26, A6NM76, O14581, O76000, O76100, O95007, O95222, P0C617, P0C626, P0C7N5, P23266, P23267, P23269, P23270, P23272, P30955, P34985, P34986, P47890, P58173, P59922, P70526, Q15622, Q5TZ20, Q60882, Q60886, Q6IEU7, Q6UXT6, Q8N0Y5, Q8N127, Q8N146, Q8N148, Q8N162, Q8N628

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	70
Likely benign	13
Benign	9

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1163164	NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs)	Likely pathogenic
1705950	NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer)	Likely pathogenic
2433811	NM_003126.4(SPTA1):c.7135-1G>T	Likely pathogenic

SpliceAI

318 predictions. Top by Δscore:

Variant	Effect	Δscore
1:158611385:AGGGC:A	acceptor_gain	0.9900
1:158611386:GGGC:G	acceptor_gain	0.9900
1:158611389:CCTGA:C	acceptor_loss	0.9900
1:158611390:C:CC	acceptor_gain	0.9900
1:158611391:T:A	acceptor_loss	0.9900
1:158606501:G:GT	donor_gain	0.9800
1:158611387:GGC:G	acceptor_gain	0.9800
1:158606501:G:T	donor_gain	0.9700
1:158611397:G:C	acceptor_gain	0.9700
1:158611388:GC:G	acceptor_gain	0.9600
1:158611389:CC:C	acceptor_gain	0.9600
1:158611397:G:GC	acceptor_gain	0.9600
1:158612338:T:C	acceptor_gain	0.9600
1:158611399:A:C	acceptor_gain	0.9500
1:158612337:C:G	acceptor_gain	0.9500
1:158611399:A:AC	acceptor_gain	0.9300
1:158612335:CTCT:C	acceptor_gain	0.9300
1:158612336:TCTT:T	acceptor_gain	0.9300
1:158612338:T:TG	acceptor_gain	0.8900
1:158606468:G:GT	donor_gain	0.8200
1:158612337:CT:C	acceptor_gain	0.8200
1:158611387:GGCCT:G	acceptor_gain	0.8100
1:158611388:GCCTG:G	acceptor_gain	0.8100
1:158606804:A:G	donor_gain	0.7900
1:158612338:T:TC	acceptor_gain	0.7900
1:158611386:GGGCC:G	acceptor_gain	0.7700
1:158606465:G:GT	donor_gain	0.7600
1:158606505:T:G	donor_gain	0.7600
1:158612345:C:CT	acceptor_gain	0.7500
1:158606542:ATCT:A	donor_gain	0.7400

AlphaMissense

2043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:158606940:T:C	F168L	0.910
1:158606942:C:A	F168L	0.910
1:158606942:C:G	F168L	0.910
1:158607309:A:C	S291R	0.908
1:158607311:T:A	S291R	0.908
1:158607311:T:G	S291R	0.908
1:158606967:T:C	F177L	0.899
1:158606969:T:A	F177L	0.899
1:158606969:T:G	F177L	0.899
1:158607045:A:C	S203R	0.896
1:158607047:T:A	S203R	0.896
1:158607047:T:G	S203R	0.896
1:158606928:T:C	F164L	0.891
1:158606930:C:A	F164L	0.891
1:158606930:C:G	F164L	0.891
1:158606472:T:C	F12L	0.887
1:158606474:T:A	F12L	0.887
1:158606474:T:G	F12L	0.887
1:158606559:A:C	S41R	0.887
1:158606561:C:A	S41R	0.887
1:158606561:C:G	S41R	0.887
1:158606970:T:C	F178L	0.873
1:158606972:T:A	F178L	0.873
1:158606972:T:G	F178L	0.873
1:158606487:T:C	F17L	0.862
1:158606489:C:A	F17L	0.862
1:158606489:C:G	F17L	0.862
1:158606742:T:C	F102L	0.843
1:158606744:C:A	F102L	0.843
1:158606744:C:G	F102L	0.843

dbSNP variants (sampled 300 via entrez): RS1000112504 (1:158605290 A>G), RS1000262697 (1:158612703 G>A,C,T), RS1000417566 (1:158607125 C>A,T), RS1000636089 (1:158612903 T>A,C,G), RS1000820508 (1:158612359 A>G), RS1001333654 (1:158606499 G>A,T), RS1002058933 (1:158606026 G>A), RS1002101319 (1:158607992 T>C), RS1002486782 (1:158609427 G>A), RS1003552058 (1:158604893 G>A), RS1003602863 (1:158610210 A>T), RS1003733827 (1:158604413 A>T), RS1003764407 (1:158604182 T>C), RS1003769849 (1:158604554 A>C), RS1003975368 (1:158610423 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:175050, MIM:130600, MIM:266140, MIM:270970

GenCC curated gene-disease

Mondo (4): juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (MONDO:0008278), elliptocytosis 2 (MONDO:0007533), pyropoikilocytosis, hereditary (MONDO:0009948), hereditary spherocytosis type 3 (MONDO:0010053)

Orphanet (4): Juvenile polyposis syndrome (Orphanet:2929), Hereditary elliptocytosis (Orphanet:288), Hereditary spherocytosis (Orphanet:822), Hereditary pyropoikilocytosis (Orphanet:98867)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001765_34	Red blood cell traits	4.000000e-16
GCST003542_29	Night sleep phenotypes	6.000000e-06
GCST004602_17	Mean corpuscular volume	6.000000e-29
GCST004632_94	Lymphocyte percentage of white cells	2.000000e-09
GCST90002396_147	Mean reticulocyte volume	8.000000e-11
GCST90002397_779	Mean spheric corpuscular volume	2.000000e-16
GCST90002403_25	Red blood cell count	2.000000e-13
GCST90016667_15	Spleen volume	6.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
C565058	Elliptocytosis 2 (supp.)
C563412	Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia (supp.)
C563004	Pyropoikilocytosis, Hereditary (supp.)
C567489	Spherocytosis, Type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases methylation	1
nonanal	increases methylation	1
n-hexanal	increases methylation	1
butyraldehyde	increases methylation	1
caprylic aldehyde	increases methylation	1
pentanal	increases methylation	1
heptanal	increases methylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00723567	Not specified	COMPLETED	A Novel Mutation of the Spectrin Gene