ORM1

Summary

ORM1 (orosomucoid 1, HGNC:8498) is a protein-coding gene on chromosome 9q32, encoding Alpha-1-acid glycoprotein 1 (P02763). Functions as a transport protein in the blood stream.

This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression.

Source: NCBI Gene 5004 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 31 total
• Druggable target: yes
• MANE Select transcript: NM_000607

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8498
Approved symbol	ORM1
Name	orosomucoid 1
Location	9q32
Locus type	gene with protein product
Status	Approved
Aliases	A1AG1
Ensembl gene	ENSG00000229314
Ensembl biotype	protein_coding
OMIM	138600
Entrez	5004

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000259396, ENST00000477456, ENST00000880069, ENST00000956814, ENST00000956815

RefSeq mRNA: 1 — MANE Select: NM_000607 NM_000607

CCDS: CCDS6803

Canonical transcript exons

ENST00000259396 — 6 exons

Exon	Start	End
ENSE00001654604	114325049	114325152
ENSE00001751007	114323663	114323805
ENSE00001856026	114326292	114326479
ENSE00001939814	114323098	114323247
ENSE00003649845	114324018	114324088
ENSE00003693867	114324790	114324897

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 99.97.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4027 / max 282.0705, expressed in 11 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98153	0.3019	10
98152	0.0660	8
98154	0.0348	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.97	gold quality
liver	UBERON:0002107	99.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	97.34	gold quality
bone marrow	UBERON:0002371	95.22	gold quality
bone marrow cell	CL:0002092	91.14	gold quality
blood	UBERON:0000178	87.28	gold quality
trabecular bone tissue	UBERON:0002483	86.77	gold quality
granulocyte	CL:0000094	81.87	gold quality
right lung	UBERON:0002167	80.73	gold quality
right adrenal gland	UBERON:0001233	80.38	gold quality
upper lobe of left lung	UBERON:0008952	80.16	gold quality
upper lobe of lung	UBERON:0008948	79.56	gold quality
leukocyte	CL:0000738	78.81	gold quality
monocyte	CL:0000576	78.41	gold quality
mononuclear cell	CL:0000842	78.27	gold quality
body of stomach	UBERON:0001161	77.83	gold quality
spleen	UBERON:0002106	77.83	gold quality
left adrenal gland	UBERON:0001234	75.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.28	gold quality
right adrenal gland cortex	UBERON:0035827	75.02	gold quality
right uterine tube	UBERON:0001302	74.71	gold quality
cartilage tissue	UBERON:0002418	74.59	gold quality
lower esophagus mucosa	UBERON:0035834	74.10	gold quality
stomach	UBERON:0000945	73.70	gold quality
ectocervix	UBERON:0012249	73.60	gold quality
left adrenal gland cortex	UBERON:0035825	72.95	gold quality
right coronary artery	UBERON:0001625	72.94	gold quality
adrenal gland	UBERON:0002369	72.39	gold quality
descending thoracic aorta	UBERON:0002345	72.27	gold quality
body of pancreas	UBERON:0001150	72.23	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	44877.95
E-MTAB-10137	yes	18726.24
E-GEOD-130473	yes	14008.92
E-MTAB-10553	yes	13716.22
E-CURD-112	yes	2821.22
E-MTAB-9801	yes	8.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CEBPA, CEBPB, CEBPD, CEBPE, CEBPG, HNRNPK, HR, IRF6, NFKB, NR1H4, NR3C1, PPARA, PPARG, RARA, RXRA, SP1, SPI1, SSRP1

miRNA regulators (miRDB)

16 targeting ORM1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-6515-5P	97.08	65.48	1219
HSA-MIR-3126-5P	96.87	65.83	912
HSA-MIR-6875-5P	96.87	65.49	958

Literature-anchored findings (GeneRIF, showing 40)

• Different ORM1 phenotypes may affect the disposition of quinidine (PMID:11814462)
• demonstrate that orosomucoid and/or its glycoforms affects thyroid cell function in vitro and that it does so by influencing the second messenger cAMP probably by interacting directly with the TSH receptor (PMID:11911961)
• The effect of alpha2,6-linked sialic acid on anti-IgM antibody-induced apoptosis in Ramos cells. (PMID:11925509)
• folds as a highly symmetrical all-beta protein dominated by a single eight-stranded antiparallel beta-sheet (PMID:12480518)
• exerts significant effects on the pharmacokinetics, plasma concentrations, and intracellular distribution of imatinib in chronic myeloid leukemia patients (PMID:12576428)
• tertiary structure analysis (PMID:15013397)
• Urinary levels are increaed in normoalbuminuric type 2 diabetic patients. (PMID:15111541)
• the N-linked glycosylation pattern of AGP was explored (PMID:16261636)
• The binding of coumarin enantiomers to ORM1 is studied. (PMID:16290938)
• The drug binding site of AGP was gained from circular dichroism and electronic absorption spectra. (PMID:17321687)
• Alpha-1-acid glycoprotein 1 may be an endogenous ligand for Siglec-5 as a signaling molecule that participates directly in the regulation of neutrophil responses. (PMID:17675532)
• Different ORM1 genotypes affect the protein binding percentage and the concentration of serum free nortriptyline. (PMID:17944232)
• A different distribution of the area percentage of AGP forms is observed when comparing samples from diseased and healthy individuals, the most acidic AGP forms being present in a higher proportion in the samples from cancer patients. (PMID:17987628)
• Polymorphisms of the human ORM1 gene in Mexico have been evaluated. (PMID:18273814)
• Bile pigment biliverdin and is the endogenous ligand of AAG. (PMID:18510947)
• The crystal structure of the recombinant unglycosylated human AGP at 1.8 A resolution, which was solved using the new method of UV-radiation-damage-induced phasing, is reported. (PMID:18823996)
• The ORM1 variant is predominantly responsible for the acute-phase property of alpha-1 acid glycoprotein. (PMID:19018521)
• A site-directed mutagenesis study of drug-binding selectivity in genetic variants of AGP1 is reported. (PMID:19198000)
• ORM1*S/*S genotype predicted failure to complete a 6-week trial of antidepressants, whereas elevated plasma concentration of orosomucoid predicted failure to respond to antidepressant therapy at 6 weeks. (PMID:19395425)
• The present study investigated enhanced fucosylation of AGP in the sera of chronic hepatitis B (HBV-CH) and hepatitis B cirrhosis (HBV-LC) patients. (PMID:19459043)
• Results describe modifications in alpha-1-acid glycoprotein fucosylation in relation to different stages of human pregnancy. (PMID:19616527)
• Almost all of the acute-phase proteins were closely related to rheumatoid arthritis activity (based on DAS28) and their places in the downgrade scale were as follows: CRP, Tf, AGP, Hp and AAT. (PMID:20371432)
• ORM integrates inflammatory and metabolic signals to modulate immune responses to protect adipose tissue from excessive inflammation and thereby from metabolic dysfunction. (PMID:20442402)
• Characterized are more than 150 human Alpha-1-acid glycoprotein isoforms, differing both in the amino acid sequence and in the glycosylation. (PMID:20617306)
• Data suggest that GDC-0449 pharmacokinetics are mediated by AAG binding. (PMID:21300760)
• analysis of differences in drug-binding selectivity between two forms of human alpha1-acid glycoprotein genetic variants, the A and F1*S forms (PMID:21349832)
• Importance of pH and disulfide bridges on the structural and binding properties of human alpha-acid glycoprotein. (PMID:21621584)
• Identify ORM genetic variations/haplotype structure associated with serum alpha-1-acid glycoprotein level and the pharmacokinetics of paclitaxel in Japanese cancer patients. (PMID:21638284)
• The distribution of the AGP phenotypes did not differ significantly among the disease groups studied (PMID:21726491)
• Leukocytospermia was associated with the alterations of terminal monosaccharide expression in human seminal fibronectin and alpha{1}-acid glycoprotein (PMID:22048274)
• Urinary MCP1 and AGP are biomarkers of lupus nephritis in patients with juvenile-onset systemic lupus erythematosus, providing insight into its pathophysiology (PMID:22147846)
• In this study, the potential of CZE-UV and CZE-ESI-MS analysis of intact AGP isoforms to study the correlation of this protein with bladder cancer is shown. (PMID:22216449)
• Characterization of 6-mercaptopurine binding site on human alpha1-acid glycoprotein (orosomucoid) using molecular docking. (PMID:22574522)
• The binding properties of the polymyxin class of antibiotics for human alpha-1-acid glycoprotein (AGP) have been characterized. (PMID:22587817)
• AGP has a direct effect in brain microvasculature and may play an important role in altering blood brain barrier integrity in inflammatory-related diseases. (PMID:22633841)
• change of the maintenance of three acute phase proteins: ceruloplasmin, alpha1-antitripsin and orosomucoid in an oral fluid and blood plasma at paradontitis and myocardial infarction (PMID:22708402)
• alpha(1)-Acid glycoprotein up-regulates CD163 via TLR4/CD14 protein pathway: possible protection against hemolysis-induced oxidative stress. (PMID:22807450)
• Analyses of Nicaraguan population surveillance data suggest that preschool children with elevated AGP1 levels have higher prevalence of anemia than children with normal AGP1 levels. (PMID:22908695)
• Drug-binding energetics of human alpha-1-acid glycoprotein. (PMID:23192962)
• A cross-sectional study was conducted to evaluate the relationship between periodontitis and the common systemic inflammatory markers in 32 morbidly obese patients. The severity of periodontitis was associated with the plasma level of orosomucoid. (PMID:23526947)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	apom	ENSDARG00000076838
mus_musculus	Orm3	ENSMUSG00000028359
mus_musculus	Orm1	ENSMUSG00000039196
mus_musculus	Orm2	ENSMUSG00000061540
rattus_norvegicus	Orm1	ENSRNOG00000007886

Paralogs (1): ORM2 (ENSG00000228278)

Protein

Protein identifiers

Alpha-1-acid glycoprotein 1 — P02763 (reviewed: P02763)

Alternative names: Orosomucoid-1

All UniProt accessions (1): P02763

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction.

Subcellular location. Secreted.

Tissue specificity. Expressed by the liver and secreted in plasma.

Post-translational modifications. N-glycosylated. N-glycan heterogeneity at Asn-33: Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor).

Domain organisation. Contains a beta-barrel that binds various ligands in its interior.

Induction. Synthesis is controlled by glucocorticoids, interleukin-1 and interleukin-6, It increases 5- to 50-fold upon inflammation.

Polymorphism. Three common alleles of ORM1 are known. ORM1F1 has Gln-38/Val-174; ORM1F2 has Gln-38/Met-174 and ORM1S has Arg-38/Val-174. The sequence shown is that of allele ORM1S.

Similarity. Belongs to the calycin superfamily. Lipocalin family.

RefSeq proteins (1): NP_000598* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000566	Lipocln_cytosolic_FA-bd_dom	Domain
IPR001500	A1A_glycop	Family
IPR012674	Calycin	Homologous_superfamily

Pfam: PF00061

UniProt features (35 total): helix 8, strand 8, glycosylation site 5, sequence variant 3, sequence conflict 3, turn 3, disulfide bond 2, signal peptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3KQ0	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02763-F1	89.97	0.73

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 19

Disulfide bonds (2): 23–165, 90–183

Glycosylation sites (5): 33, 56, 72, 93, 103

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-6798695	Neutrophil degranulation
R-HSA-109582	Hemostasis
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 157 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOBP_INFLAMMATORY_RESPONSE, GNF2_GSTM1, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GNF2_HPN, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, IIZUKA_LIVER_CANCER_PROGRESSION_L1_G1_UP, GOBP_INTERLEUKIN_1_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION, GOBP_NEGATIVE_REGULATION_OF_INTERLEUKIN_6_PRODUCTION, GERY_CEBP_TARGETS, MODULE_75, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS

GO Biological Process (8): regulation of immune system process (GO:0002682), acute-phase response (GO:0006953), inflammatory response (GO:0006954), negative regulation of interleukin-6 production (GO:0032715), negative regulation of tumor necrosis factor production (GO:0032720), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of interleukin-1 production (GO:0032732), positive regulation of tumor necrosis factor production (GO:0032760)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), platelet alpha granule lumen (GO:0031093), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), tertiary granule lumen (GO:1904724)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Innate Immune System	1
Immune System	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tumor necrosis factor production	2
regulation of tumor necrosis factor production	2
cellular anatomical structure	2
secretory granule lumen	2
immune system process	1
regulation of biological process	1
acute inflammatory response	1
defense response	1
negative regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
negative regulation of tumor necrosis factor superfamily cytokine production	1
interleukin-1 beta production	1
regulation of interleukin-1 beta production	1
positive regulation of interleukin-1 production	1
positive regulation of cytokine production	1
interleukin-1 production	1
regulation of interleukin-1 production	1
positive regulation of tumor necrosis factor superfamily cytokine production	1
binding	1
platelet alpha granule	1
specific granule	1
extracellular vesicle	1
extracellular region	1
intracellular organelle lumen	1
tertiary granule	1

Protein interactions and networks

STRING

1360 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ORM1	ALB	P02768	997
ORM1	SERPINA1	P01009	950
ORM1	HP	P00737	948
ORM1	SPTLC1	O15269	943
ORM1	SPTLC3	Q9NUV7	912
ORM1	SPTLC2	O15270	910
ORM1	CP	P00450	896
ORM1	AMBP	P00977	888
ORM1	SERPINA3	P01011	887
ORM1	ORMDL3	Q8N138	887
ORM1	CRP	P02741	881
ORM1	AHSG	P02765	881
ORM1	ORMDL1	Q9P0S3	873
ORM1	ORMDL2	Q53FV1	847
ORM1	CLU	P10909	819

IntAct

61 interactions, top by confidence:

A	B	Type	Score
MAPK6	HERC2	psi-mi:“MI:0914”(association)	0.840
ORM1	ORM2	psi-mi:“MI:0914”(association)	0.620
ORM2	ORM1	psi-mi:“MI:0915”(physical association)	0.620
ORM1	ORM2	psi-mi:“MI:0915”(physical association)	0.620
SERPINE1	ORM1	psi-mi:“MI:0403”(colocalization)	0.540
ORM1	SERPINE1	psi-mi:“MI:0403”(colocalization)	0.540
SERPINE1	ORM1	psi-mi:“MI:0915”(physical association)	0.540
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
ORM1	PGK2	psi-mi:“MI:0915”(physical association)	0.400
BLVRB	ORM1	psi-mi:“MI:0915”(physical association)	0.370
GLUD1	ORM1	psi-mi:“MI:0915”(physical association)	0.370
ORM1	TP63	psi-mi:“MI:0915”(physical association)	0.370
GSDMB	ORM1	psi-mi:“MI:0915”(physical association)	0.370
TMEM37	ORM1	psi-mi:“MI:0915”(physical association)	0.370
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
SNX27	IGLL5	psi-mi:“MI:0914”(association)	0.350
DDX19B	IGLL5	psi-mi:“MI:0914”(association)	0.350
GDPD1	CP	psi-mi:“MI:0914”(association)	0.350
NSD2	PFKFB2	psi-mi:“MI:0914”(association)	0.350
TSSK2	SERPINA1	psi-mi:“MI:0914”(association)	0.350
RET	PIK3R2	psi-mi:“MI:0914”(association)	0.350
GNG8	POTEF	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
ST6GALNAC6	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM2 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), PTGDS (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), PRR4 (Affinity Capture-MS), ORM1 (Affinity Capture-MS), ORM1 (Affinity Capture-MS)

ESM2 similar proteins: A2AEP0, A2AJB7, A2BIM8, B5X0G2, F0UZ12, H2B3G5, O08976, O18874, P02762, P02763, P02764, P04938, P06910, P06911, P07361, P07435, P08937, P09465, P11588, P11589, P11591, P14630, P15399, P19652, P20462, P21350, P21352, P21760, P35578, P81245, P81608, P83508, Q28133, Q29144, Q29147, Q29614, Q2LE37, Q3SZR3, Q5R894, Q5VFH6

Diamond homologs: P02763, P02764, P07361, P19652, P21350, P21352, P25227, Q3SZR3, Q60590, Q63805

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NPR1	“up-regulates activity”	ORM1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

593 predictions. Top by Δscore:

Variant	Effect	Δscore
9:114323245:CGGG:C	donor_loss	1.0000
9:114323246:GG:G	donor_gain	1.0000
9:114323247:GG:G	donor_gain	1.0000
9:114323249:T:A	donor_loss	1.0000
9:114323791:A:T	donor_gain	1.0000
9:114323998:C:CA	acceptor_gain	1.0000
9:114324009:T:A	acceptor_gain	1.0000
9:114324010:G:A	acceptor_gain	1.0000
9:114324016:A:AG	acceptor_gain	1.0000
9:114324017:G:GG	acceptor_gain	1.0000
9:114324084:A:G	donor_gain	1.0000
9:114324785:TCCAG:T	acceptor_loss	1.0000
9:114324786:CCAGT:C	acceptor_loss	1.0000
9:114324787:CAGT:C	acceptor_loss	1.0000
9:114324788:A:AG	acceptor_gain	1.0000
9:114324788:A:AT	acceptor_loss	1.0000
9:114324788:AGT:A	acceptor_gain	1.0000
9:114324788:AGTG:A	acceptor_gain	1.0000
9:114324788:AGTGG:A	acceptor_gain	1.0000
9:114324789:G:GT	acceptor_gain	1.0000
9:114324789:GT:G	acceptor_gain	1.0000
9:114324789:GTG:G	acceptor_gain	1.0000
9:114324789:GTGG:G	acceptor_gain	1.0000
9:114324789:GTGGG:G	acceptor_gain	1.0000
9:114324894:TATGG:T	donor_loss	1.0000
9:114324895:ATGG:A	donor_loss	1.0000
9:114324896:TGGT:T	donor_loss	1.0000
9:114324897:GGTA:G	donor_loss	1.0000
9:114325044:T:TA	acceptor_gain	1.0000
9:114325044:TGCA:T	acceptor_loss	1.0000

AlphaMissense

1312 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:114324028:T:A	C90S	0.984
9:114324029:G:C	C90S	0.984
9:114326298:T:A	C183S	0.979
9:114326299:G:C	C183S	0.979
9:114323677:G:C	W43C	0.974
9:114323677:G:T	W43C	0.974
9:114323678:T:C	F44L	0.974
9:114323680:T:A	F44L	0.974
9:114323680:T:G	F44L	0.974
9:114324028:T:C	C90R	0.974
9:114325088:T:C	F159S	0.966
9:114326298:T:C	C183R	0.965
9:114323675:T:A	W43R	0.961
9:114323675:T:C	W43R	0.961
9:114325087:T:C	F159L	0.960
9:114325089:C:A	F159L	0.960
9:114325089:C:G	F159L	0.960
9:114324030:C:G	C90W	0.957
9:114326299:G:A	C183Y	0.956
9:114324029:G:A	C90Y	0.955
9:114323164:A:C	S11R	0.951
9:114323166:C:A	S11R	0.951
9:114323166:C:G	S11R	0.951
9:114323744:T:C	F66L	0.950
9:114323746:C:A	F66L	0.950
9:114323746:C:G	F66L	0.950
9:114323688:C:A	A47E	0.948
9:114323690:T:C	S48P	0.946
9:114326299:G:T	C183F	0.946
9:114326300:T:G	C183W	0.946

dbSNP variants (sampled 300 via entrez): RS1001386903 (9:114326506 A>C), RS1002904532 (9:114321228 A>G), RS1003290596 (9:114321864 C>A), RS1003468004 (9:114324717 G>A), RS1003849413 (9:114323898 G>C), RS1004791420 (9:114325958 A>C), RS1004843867 (9:114326417 C>G,T), RS1006519226 (9:114324699 G>A), RS1006914020 (9:114325454 C>T), RS1006967693 (9:114325900 A>G), RS1007147550 (9:114321510 G>C), RS1007180069 (9:114321688 T>G), RS1007246104 (9:114324203 C>A,G,T), RS1007303149 (9:114324366 T>G), RS1008971978 (9:114322571 C>G)

Disease associations

OMIM: gene MIM:138600 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001635_1	Tourette syndrome	3.000000e-08
GCST001798_14	End-stage coagulation	2.000000e-10
GCST002315_1	Thrombin generation potential phenotypes	7.000000e-15
GCST002315_2	Thrombin generation potential phenotypes	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005538	thrombin generation potential measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4285 (SINGLE PROTEIN)

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17650	ORM1		0.00	0
rs1687390	ORM1, ORM2		0.00	0

CTD chemical–gene interactions

54 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Warfarin	affects binding, decreases reaction, affects response to substance, increases response to substance	4
Progesterone	affects binding, affects cotreatment, decreases expression, decreases reaction	3
Valproic Acid	decreases methylation, increases expression, decreases expression	3
Cyclosporine	increases expression, affects expression	3
bisphenol A	affects expression, affects cotreatment, decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	affects expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
trichostatin A	decreases expression	1
sodium arsenite	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	affects expression	1
perfluorooctanoic acid	decreases expression	1
1-anilino-8-naphthalenesulfonate	affects binding	1
2,2’,3’,4,4’,5-hexachlorobiphenyl	affects expression	1
benazol P	affects expression	1
11-(dansylamino)undecanoic acid	affects binding	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
PCB 180	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases expression, affects cotreatment	1
Rosuvastatin Calcium	decreases expression, decreases reaction	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Cadmium	affects binding	1

ChEMBL screening assays

8 unique, capped per target: 5 binding, 2 functional, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3868535	ADMET	Binding affinity to human alpha-1-AGP at 1 uM measured after 4 hrs by equilibrium dialysis method relative to control	Discovery of Highly Potent Liver X Receptor β Agonists. — ACS Med Chem Lett
CHEMBL5316926	Binding	Binding affinity to human alpha1 acid glycoprotein assessed as association constant measured after 18 hrs by equilibrium dialysis method	Structural Basis of the Change in the Interaction Between Mycophenolic Acid and Subdomain IIA of Human Serum Albumin During Renal Failure. — J Med Chem
CHEMBL623839	Functional	compound was evaluated for association constant (Ka) of isolated serum protein AAG	Molecular properties and pharmacokinetic behavior of cetirizine, a zwitterionic H1-receptor antagonist. — J Med Chem

Clinical trials (associated diseases)

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