AGXT

Summary

AGXT (alanine–glyoxylate aminotransferase, HGNC:341) is a protein-coding gene on chromosome 2q37.3, encoding Alanine–glyoxylate aminotransferase (P21549). Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification.

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria.

Source: NCBI Gene 189 — RefSeq curated summary.

At a glance

• Gene–disease (curated): alanine glyoxylate aminotransferase deficiency (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 21
• Clinical variants (ClinVar): 1,351 total — 208 pathogenic, 122 likely-pathogenic
• Phenotypes (HPO): 45
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000030

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:341
Approved symbol	AGXT
Name	alanine–glyoxylate aminotransferase
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Aliases	AGXT1, PH1, AGT, SPT, AGT1, TLH6, Ser-PyrAT
Ensembl gene	ENSG00000172482
Ensembl biotype	protein_coding
OMIM	604285
Entrez	189

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 22 protein_coding, 3 retained_intron

ENST00000307503, ENST00000470255, ENST00000472436, ENST00000476698, ENST00000908227, ENST00000908228, ENST00000908229, ENST00000908230, ENST00000908231, ENST00000908232, ENST00000908233, ENST00000908234, ENST00000908235, ENST00000908236, ENST00000908237, ENST00000908238, ENST00000908239, ENST00000908240, ENST00000908241, ENST00000908242, ENST00000908243, ENST00000908244, ENST00000908245, ENST00000908246, ENST00000908247

RefSeq mRNA: 1 — MANE Select: NM_000030 NM_000030

CCDS: CCDS2543

Canonical transcript exons

ENST00000307503 — 11 exons

Exon	Start	End
ENSE00001162318	240877537	240877632
ENSE00001162322	240875935	240876004
ENSE00001162333	240873978	240874062
ENSE00001843474	240868824	240869030
ENSE00001895938	240878714	240880500
ENSE00003491602	240871349	240871449
ENSE00003541379	240869170	240869362
ENSE00003547937	240875109	240875204
ENSE00003589786	240872979	240873049
ENSE00003606836	240878022	240878150
ENSE00003673802	240870644	240870708

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 99.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.1824 / max 2003.5481, expressed in 33 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
26466	3.6066	30
26465	0.2650	12
26471	0.1827	11
26463	0.0453	9
26464	0.0321	9
26462	0.0269	9
26461	0.0184	10
26472	0.0055	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.82	gold quality
liver	UBERON:0002107	99.50	gold quality
endometrium epithelium	UBERON:0004811	89.51	gold quality
paraflocculus	UBERON:0005351	86.03	gold quality
middle frontal gyrus	UBERON:0002702	84.15	gold quality
buccal mucosa cell	CL:0002336	83.19	silver quality
Brodmann (1909) area 10	UBERON:0013541	82.55	gold quality
cartilage tissue	UBERON:0002418	77.26	gold quality
adult mammalian kidney	UBERON:0000082	77.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.41	gold quality
nephron tubule	UBERON:0001231	71.93	gold quality
kidney	UBERON:0002113	70.52	gold quality
cerebellar vermis	UBERON:0004720	69.06	silver quality
adult organism	UBERON:0007023	67.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.87	gold quality
kidney epithelium	UBERON:0004819	67.16	silver quality
tendon of biceps brachii	UBERON:0008188	66.12	gold quality
renal medulla	UBERON:0000362	65.00	silver quality
cortex of kidney	UBERON:0001225	64.72	gold quality
ileal mucosa	UBERON:0000331	64.27	silver quality
spleen	UBERON:0002106	63.36	gold quality
renal glomerulus	UBERON:0000074	62.12	silver quality
metanephric glomerulus	UBERON:0004736	62.02	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	61.56	gold quality
jejunal mucosa	UBERON:0000399	61.15	silver quality
metanephros	UBERON:0000081	61.11	gold quality
mucosa of transverse colon	UBERON:0004991	59.20	gold quality
gluteal muscle	UBERON:0002000	58.60	gold quality
biceps brachii	UBERON:0001507	58.58	gold quality
triceps brachii	UBERON:0001509	58.40	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	60.49
E-MTAB-10553	yes	41.64
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA, FOXA2, PDX1, SP1, TFAP2A

miRNA regulators (miRDB)

9 targeting AGXT, 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-6797-5P	99.61	66.55	2084
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-541-3P	96.07	66.11	1271
HSA-MIR-654-5P	96.07	66.18	1280
HSA-MIR-6851-3P	95.73	65.11	688

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• serine:pyruvate aminotransferase expression is regulated by Sp1, AP-2 and PKA (PMID:12169688)
• crystal structure of normal human AGT complexed to the competitive inhibitor amino-oxyacetic acid to 2.5A (PMID:12899834)
• Early detection of Gly170Arg and Phe152Ile mutations in PH1 has important clinical implications because of their association with pyridoxine responsiveness and clinical outcome (PMID:15253729)
• report describing 3 AGXT gene mutations in Chinese patients with primary hyperoxaluria type 1 (PMID:15365967)
• mutations with serious consequences in vivo may not be inherently catalytically inactive and may be rescuable (PMID:15802217)
• human AGT interacts with human Pex5p in mammalian cells, but not yeast cells; type 1 peroxisomal targeting sequence(PTS1)is located entirely within the smaller C-terminal structural domain of 110 amino acids (PMID:15911627)
• Determination of crystal structure of AGT has enabled effects of some of most important missense mutations in AGXT gene to be rationalised in terms of AGT folding, dimerization and stability. New possibilities for design of pharmacological agents. (PMID:15961951)
• Presentation and role of transplantation [kidney and/or liver] in adult patients with type 1 primary hyperoxaluria and the 1244T AGXT mutation in a university hospital in Spain are presented. (PMID:16912707)
• The effects of missense mutations on enzyme activity, dimerization, aggregation, and turnover were investigated. (PMID:16971151)
• expressed wild-type human AGT1 was predominantly localized in mouse hepatocellular peroxisomes, whereas the most common mutant form of AGT1 (G170R) was localized predominantly in the mitochondria (PMID:17110443)
• AGXT is even more variable than formerly believed in the diagnosis of primary hyperoxaluria (PMID:17460142)
• Selective exon sequencing can allow a definitive diagnosis in 50% of PH1 patients. (PMID:17495019)
• Results report for the first time the expression of untagged alanine-glyoxylate aminotransferase together with a new rapid protocol for its purification. (PMID:18289107)
• Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. (PMID:18448374)
• The environmental and life-style conditions of the Kola Sami could have influenced the population-specific frequencies of the AGXTProIILeu allele (PMID:18468259)
• calculated interaction energies of L-cysteine, L-alanine and L-serine docked at the active site (PMID:18492492)
• stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase (PMID:18782763)
• the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. (PMID:19155213)
• Results compare assay methods and conditions for human liver alanine:glyoxylate aminotransferase activity. (PMID:19887726)
• Genotype-phenotype correlation in primary hypoxaluria type 1: the p. Gly170Arg AGXT mutation is associated with a better outcome. (PMID:20016466)
• mutation of the AGXT gene, showing the patient to be compound heterozygous for the c.33_34InsC and c.508G > A mutations (PMID:20020206)
• 3D picture of an in vivo early ATP-dependent step of the folding reaction cycle of the chaperonin and supports a GroEL functional model in which the chaperonin promotes folding of the AGXT-LTM mutant protein through forced unfolding mechanism (PMID:20056599)
• investigated occurrence of Pro11Leu polymorphism in both herder & agriculturalist populations from Central Asia; findings show distribution of variation observed in the AGXT gene could be due to demographic history, rather than local adaptation to diet (PMID:20059472)
• Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I. (PMID:20133649)
• crystal structure of AGT consists of an intimate dimer in which an extended N-terminal segment of 21 amino acids from one subunit wraps as an elongated irregular coil around the outside of the crystallographic symmetry-related subunit. (PMID:20208150)
• Data show that P11L mutation is responsible for the urea sensitivity of AGT-Mi. (PMID:20713123)
• Partially unfolded states of AGXT strongly interact with Hsc70 and Hsp90 chaperones. (PMID:21103899)
• Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria. (PMID:21612638)
• A side-by-side comparison was performed between normal AGT and nine purified recombinant pathogenic variants in terms of catalytic activity, coenzyme binding mode and affinity, spectroscopic features, oligomerization, and thermal stability. (PMID:22018727)
• These results suggest that the N-terminal extension plays an essential role in allowing AGT to attain its correct conformation and functional activity. (PMID:22198249)
• selected aspects of the biochemical properties of the two allelic forms of AGXT and of some primary hyperoxaluria type 1-causing variants (review) (PMID:22201765)
• The molecular mechanism of recognition by the peroxisomal receptor Pex5p, in complex with alanine-glyoxylate aminotransferase revealed by X-ray crystallography. (PMID:22529745)
• Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele (PMID:23229545)
• Solved is the X-ray crystal structure of the S187F variant of AGT to a resolution of 2.9 A. (PMID:23589421)
• Three novel mutations detected in the AGXT gene associated with primary hyperoxaluria type 1 in a Tunisian patient population. (PMID:23810941)
• The view presented has important implications for the development of new therapeutic strategies based on targeting specific elements of alanine-glyoxylate aminotransferase homeostasis (PMID:23956997)
• Identification of a double mutation c.32C>T (Pro11Leu) and c.731T>C (p.Ile244Thr) in AGXT gene in five unrelated Tunisian families with primary hyperoxaluria type 1 disease. (PMID:24012869)
• Gly161 mutations in alanine:glyoxylate aminotransferase is associated with Primary Hyperoxaluria Type I. (PMID:24055001)
• Modeling of the mutations on a 1.9 A crystal structure suggests that Primary hyperoxaluria type I causing mutants perturb locally the native structure of AGT. (PMID:24205397)
• data imply that the AGT Pro11Leu polymorphism is not directly responsible for the low incidence of stone formation in black South Africans. (PMID:24344980)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	agxtb	ENSDARG00000018478
danio_rerio	agxta	ENSDARG00000052099
mus_musculus	Agxt	ENSMUSG00000026272
rattus_norvegicus	Agxt	ENSRNOG00000023856
drosophila_melanogaster	Agxt	FBGN0014031
caenorhabditis_elegans		WBGENE00011767

Paralogs (1): PSAT1 (ENSG00000135069)

Protein

Protein identifiers

Alanine–glyoxylate aminotransferase — P21549 (reviewed: P21549)

Alternative names: Serine–pyruvate aminotransferase

All UniProt accessions (1): P21549

UniProt curated annotations — full annotation on UniProt →

Function. Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification. Also catalyzes the transamination between L-serine and pyruvate and contributes to gluconeogenesis from the L-serine metabolism.

Subunit / interactions. Homodimer.

Subcellular location. Peroxisome.

Tissue specificity. Liver.

Disease relevance. Hyperoxaluria primary 1 (HP1) [MIM:259900] An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Alanine–glyoxylate aminotransferase activity is inhibited by 1 mM (aminooxy)acetic acid by 97.5%.

Polymorphism. Variant p.Pro11Leu acts synergistically with other variants in AGXT producing specific enzymatic phenotypes in HP1 patients. The combined presence of variants p.Pro11Leu and p.Ile340Met defines the minor AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal European and North American populations, and 50% in HP1 patients.

Similarity. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.

RefSeq proteins (1): NP_000021* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000192	Aminotrans_V_dom	Domain
IPR015421	PyrdxlP-dep_Trfase_major	Homologous_superfamily
IPR015422	PyrdxlP-dep_Trfase_small	Homologous_superfamily
IPR015424	PyrdxlP-dep_Trfase	Homologous_superfamily
IPR020578	Aminotrans_V_PyrdxlP_BS	Binding_site
IPR024169	SP_NH2Trfase/AEP_transaminase	Family

Pfam: PF00266

Enzyme classification (BRENDA):

• EC 2.6.1.44 — alanine-glyoxylate transaminase (BRENDA: 51 organisms, 96 substrates, 25 inhibitors, 130 Km, 68 kcat entries)
• EC 2.6.1.51 — serine-pyruvate transaminase (BRENDA: 12 organisms, 56 substrates, 9 inhibitors, 23 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

18 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-ALANINE	0.24–149	58
GLYOXYLATE	0.038–64	52
PYRUVATE	0.21–51	9
SERINE	0.39–256	6
PYRUVATE	0.21–51	4
GLYOXYLATE	0.01–64	4
L-GLUTAMATE	1.7–3.32	3
L-SERINE	0.39–256	3
2-AMINOBUTYRATE	60–100	2
GLYCINE	22	2
2-OXOBUTYRATE	2.7	1
3-HYDROXYKYNURENINE	18	1
KYNURENINE	3.7	1
L-CYSTEINE	1	1
ALANINE	149	1

Catalyzed reactions (Rhea), 2 shown:

• L-serine + pyruvate = 3-hydroxypyruvate + L-alanine (RHEA:22852)
• glyoxylate + L-alanine = glycine + pyruvate (RHEA:24248)

UniProt features (94 total): sequence variant 52, helix 16, strand 13, modified residue 6, turn 4, chain 1, binding site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
5F9S	X-RAY DIFFRACTION	1.7
5HHY	X-RAY DIFFRACTION	1.7
5LUC	X-RAY DIFFRACTION	1.8
2YOB	X-RAY DIFFRACTION	1.9
4KYO	X-RAY DIFFRACTION	2.2
7NS7	X-RAY DIFFRACTION	2.2
4CBR	X-RAY DIFFRACTION	2.3
4CBS	X-RAY DIFFRACTION	2.3
3R9A	X-RAY DIFFRACTION	2.35
1H0C	X-RAY DIFFRACTION	2.5
5OG0	X-RAY DIFFRACTION	2.5
1J04	X-RAY DIFFRACTION	2.6
6RV0	X-RAY DIFFRACTION	2.7
5OFY	X-RAY DIFFRACTION	2.8
4I8A	X-RAY DIFFRACTION	2.9
4KXK	X-RAY DIFFRACTION	2.9
6RV1	X-RAY DIFFRACTION	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P21549-F1	98.30	0.98

Functional residue map

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

Ligand- & substrate-binding residues (1): 360

Post-translational modifications (6): 9, 209, 225, 225, 234, 312

Mutagenesis-validated functional residues (1):

Position	Phenotype
209	affects pyridoxal phosphate binding; loss of alanine–glyoxylate aminotransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-389661	Glyoxylate metabolism and glycine degradation
R-HSA-9033241	Peroxisomal protein import
R-HSA-1430728	Metabolism
R-HSA-71291	Metabolism of amino acids and derivatives
R-HSA-9609507	Protein localization

MSigDB gene sets: 722 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY, GOBP_EXCRETION, MODULE_52, MODULE_92, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ACID_SECRETION, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_CIRCULATORY_SYSTEM_PROCESS

GO Biological Process (8): L-serine metabolic process (GO:0006563), Notch signaling pathway (GO:0007219), glyoxylate catabolic process (GO:0009436), obsolete glycine biosynthetic process, by transamination of glyoxylate (GO:0019265), L-cysteine catabolic process (GO:0019448), L-alanine catabolic process (GO:0042853), glyoxylate metabolic process (GO:0046487), oxalic acid secretion (GO:0046724)

GO Molecular Function (9): L-serine:pyruvate transaminase activity (GO:0004760), L-alanine:glyoxylate transaminase activity (GO:0008453), transaminase activity (GO:0008483), amino acid binding (GO:0016597), pyridoxal phosphate binding (GO:0030170), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (4): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
Protein localization	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
L-amino acid catabolic process	2
proteinogenic amino acid catabolic process	2
L-alanine:oxo-acid transaminase activity	2
binding	2
cellular anatomical structure	2
L-amino acid metabolic process	1
proteinogenic amino acid metabolic process	1
cell surface receptor signaling pathway	1
aldehyde catabolic process	1
glyoxylate metabolic process	1
monocarboxylic acid catabolic process	1
sulfur amino acid catabolic process	1
aldehyde metabolic process	1
monocarboxylic acid metabolic process	1
oxalate transport	1
acid secretion	1
transferase activity, transferring nitrogenous groups	1
anion binding	1
vitamin B6 binding	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
catalytic activity	1
microbody	1
peroxisome	1
microbody lumen	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2481 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGXT	KAT2B	Q92831	981
AGXT	GRHPR	Q9UBQ7	979
AGXT	KAT2A	Q92830	969
AGXT	HOGA1	Q86XE5	957
AGXT	AGXT2	Q9BYV1	953
AGXT	OGDH	Q02218	842
AGXT	TAF9	Q16594	814
AGXT	ATXN7L2	Q5T6C5	764
AGXT	ATXN7L1	Q9ULK2	760
AGXT	ATXN7	O15265	735
AGXT	SHMT1	P34896	730
AGXT	OAT	P04181	723
AGXT	HAO1	Q9UJM8	709
AGXT	TADA2B	Q86TJ2	633
AGXT	SGF29	Q96ES7	626

IntAct

122 interactions, top by confidence:

A	B	Type	Score
AGXT	AGXT	psi-mi:“MI:0407”(direct interaction)	0.790
AGXT	AGXT	psi-mi:“MI:0915”(physical association)	0.790
AGXT	PEX5	psi-mi:“MI:0407”(direct interaction)	0.650
AGXT	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
ATXN1L	AGXT	psi-mi:“MI:0915”(physical association)	0.560
AGXT	KRTAP12-3	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	AGXT	psi-mi:“MI:0915”(physical association)	0.560
AGXT	FHL5	psi-mi:“MI:0915”(physical association)	0.560
EFS	AGXT	psi-mi:“MI:0915”(physical association)	0.560
AGXT	KRT31	psi-mi:“MI:0915”(physical association)	0.560
AGXT	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	AGXT	psi-mi:“MI:0915”(physical association)	0.560
LPXN	AGXT	psi-mi:“MI:0915”(physical association)	0.560
KRT37	AGXT	psi-mi:“MI:0915”(physical association)	0.560
KRT34	AGXT	psi-mi:“MI:0915”(physical association)	0.560
AGXT	MDFI	psi-mi:“MI:0915”(physical association)	0.560
AGXT	RFX6	psi-mi:“MI:0915”(physical association)	0.560
AGXT	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.560
AGXT	PRDM6	psi-mi:“MI:0915”(physical association)	0.560
AGXT	FOSB	psi-mi:“MI:0915”(physical association)	0.560
AGXT	KRT40	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-3	AGXT	psi-mi:“MI:0915”(physical association)	0.560
	AGXT	psi-mi:“MI:0915”(physical association)	0.560
AGXT	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (45): AGXT (PCA), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid), AGXT (Two-hybrid)

ESM2 similar proteins: A6QM00, A7SCH8, A8XKT0, A9V3C0, O13427, O13940, O35423, O74267, P09139, P11725, P14519, P20228, P21549, P23378, P31029, P31030, P37292, P37303, P41689, P43567, P48320, P48321, Q05329, Q05683, Q0IG34, Q17QF0, Q1KLZ1, Q1KLZ2, Q3LSM4, Q3SZ20, Q3UEG6, Q4PRC2, Q54GT6, Q5RDP0, Q5RFA3, Q64565, Q64611, Q6CDM0, Q6FQ44, Q6ZQY3

Diamond homologs: A1B8Z3, O08374, P14776, P16421, P21549, P43567, P55819, P84187, Q3LSM4, Q56YA5, Q58369, Q5RDP0, Q9W3Z3, Q9X1C0, A8FXA5, B1KNI3, B7VJS6, C4L7K2, O32148, O35423, P09139, P31029, P31030, P41689, Q0IG34, Q54GT6, Q7PRG3, Q7VMA9, Q87S28, B8F356, Q9KII6, P38033, P42253, A5W695, B0KIG1, B1JBM5, B2JLS3, Q46NS0, Q88KT0, Q8RSQ4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	10	25.3×	8e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

1351 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	208
Likely pathogenic	122
Uncertain significance	351
Likely benign	451
Benign	67

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069766	NM_000030.3(AGXT):c.795del (p.Val266fs)	Pathogenic
1074073	NM_000030.3(AGXT):c.823_824del (p.Ser275fs)	Pathogenic
1075767	NM_000030.3(AGXT):c.832del (p.Leu278fs)	Pathogenic
1330294	NM_000030.3(AGXT):c.642del (p.Pro215fs)	Pathogenic
1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	Pathogenic
1359036	NM_000030.3(AGXT):c.26_27insA (p.Lys12fs)	Pathogenic
1362799	NM_000030.3(AGXT):c.525-2A>G	Pathogenic
140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	Pathogenic
140584	NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	Pathogenic
144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	Pathogenic
1454950	NM_000030.3(AGXT):c.175G>T (p.Glu59Ter)	Pathogenic
1459353	NC_000001.10:g.(?230838887)(230846596_?)del	Pathogenic
1459881	NC_000002.11:g.(?241816944)(241817059_?)del	Pathogenic
147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	Pathogenic
147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	Pathogenic
149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	Pathogenic
151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	Pathogenic
18071	NC_000001.11:g.230710247G>A	Pathogenic
18072	NC_000001.11:g.230703316del	Pathogenic
187820	GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3	Pathogenic
1879839	NM_000030.3(AGXT):c.596-1G>A	Pathogenic
188774	NM_000030.3(AGXT):c.777-1G>C	Pathogenic
188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	Pathogenic
188898	NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)	Pathogenic
188957	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	Pathogenic
188979	NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)	Pathogenic
189161	NM_000030.3(AGXT):c.976del (p.Val326fs)	Pathogenic
2035288	NM_000030.3(AGXT):c.856delinsCC (p.Asn286fs)	Pathogenic
204066	NM_000030.3(AGXT):c.3G>T (p.Met1Ile)	Pathogenic
204068	NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)	Pathogenic

SpliceAI

2307 predictions. Top by Δscore:

Variant	Effect	Δscore
2:240869019:GA:G	donor_gain	1.0000
2:240869361:AGG:A	donor_loss	1.0000
2:240869363:G:A	donor_loss	1.0000
2:240869364:T:G	donor_loss	1.0000
2:240870697:G:GT	donor_gain	1.0000
2:240870705:GGAG:G	donor_gain	1.0000
2:240870706:G:GT	donor_gain	1.0000
2:240870707:AG:A	donor_loss	1.0000
2:240870708:GG:G	donor_loss	1.0000
2:240870709:GTAGG:G	donor_loss	1.0000
2:240870710:T:A	donor_loss	1.0000
2:240871346:CAGG:C	acceptor_loss	1.0000
2:240871347:A:AG	acceptor_gain	1.0000
2:240871347:AG:A	acceptor_gain	1.0000
2:240871347:AGG:A	acceptor_gain	1.0000
2:240871348:G:GG	acceptor_gain	1.0000
2:240871348:G:GT	acceptor_loss	1.0000
2:240871348:GG:G	acceptor_gain	1.0000
2:240871348:GGG:G	acceptor_gain	1.0000
2:240871348:GGGC:G	acceptor_gain	1.0000
2:240871348:GGGCC:G	acceptor_gain	1.0000
2:240871448:AGGTG:A	donor_loss	1.0000
2:240871449:GGT:G	donor_loss	1.0000
2:240871450:G:C	donor_loss	1.0000
2:240871451:T:G	donor_loss	1.0000
2:240872969:A:AG	acceptor_gain	1.0000
2:240872970:C:G	acceptor_gain	1.0000
2:240872975:CCA:C	acceptor_loss	1.0000
2:240872976:CAG:C	acceptor_loss	1.0000
2:240872977:A:T	acceptor_loss	1.0000

AlphaMissense

2532 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:240873002:A:T	D183V	0.987
2:240871444:C:G	C173W	0.983
2:240869280:T:A	N92K	0.982
2:240869280:T:G	N92K	0.982
2:240873001:G:C	D183H	0.980
2:240873984:A:T	D201V	0.980
2:240878721:G:C	R360P	0.980
2:240874043:T:C	S221P	0.979
2:240869326:T:A	W108R	0.978
2:240869326:T:C	W108R	0.978
2:240869266:G:C	A88P	0.975
2:240871443:G:A	C173Y	0.975
2:240875179:T:A	W251R	0.974
2:240875179:T:C	W251R	0.974
2:240875985:T:C	L276P	0.973
2:240869351:G:A	G116E	0.971
2:240873001:G:T	D183Y	0.971
2:240875973:T:C	L272P	0.971
2:240869336:G:C	R111P	0.970
2:240873002:A:C	D183A	0.970
2:240875981:A:C	S275R	0.970
2:240875983:C:A	S275R	0.970
2:240875983:C:G	S275R	0.970
2:240869357:G:C	R118P	0.969
2:240869328:G:C	W108C	0.968
2:240869328:G:T	W108C	0.968
2:240872996:T:C	L181P	0.968
2:240873003:T:A	D183E	0.968
2:240873003:T:G	D183E	0.968
2:240873990:T:C	L203P	0.966

dbSNP variants (sampled 300 via entrez): RS1000201087 (2:240872455 G>C), RS1000432890 (2:240875051 G>T), RS1000732306 (2:240879756 T>C,G), RS1000753313 (2:240873536 G>A), RS1000900991 (2:240877918 C>A,T), RS1001223664 (2:240878870 C>T), RS1001624501 (2:240874641 C>T), RS1001759029 (2:240874430 C>T), RS1001897235 (2:240873272 T>C), RS1002302590 (2:240878878 G>A), RS1002325247 (2:240867989 TG>T), RS1002453131 (2:240873099 C>A,T), RS1002470100 (2:240877705 A>C), RS1002629065 (2:240875674 G>A), RS1002656765 (2:240870978 G>A)

Disease associations

OMIM: gene MIM:604285 | disease phenotypes: MIM:259900, MIM:145500, MIM:267430, MIM:614213, MIM:614255, MIM:600721, MIM:102700, MIM:604360

GenCC curated gene-disease

Disease	Classification	Inheritance
primary hyperoxaluria type 1	Definitive	Autosomal recessive
renal tubular dysgenesis of genetic origin	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
alanine glyoxylate aminotransferase deficiency	Definitive	AR

Mondo (18): primary hyperoxaluria type 1 (MONDO:0009823), essential hypertension, genetic (MONDO:0007781), renal tubular dysgenesis of genetic origin (MONDO:0009970), nephrotic syndrome (MONDO:0005377), primary hyperoxaluria (MONDO:0002474), alanine glyoxylate aminotransferase deficiency (MONDO:0100278), hereditary spastic paraplegia 30 (MONDO:0012476), neuropathy, hereditary sensory, type 2C (MONDO:0013634), intellectual disability, autosomal dominant 9 (MONDO:0013656), D-2-hydroxyglutaric aciduria 1 (MONDO:0024554), hypertensive disorder (MONDO:0005044), renal tubular dysgenesis (MONDO:0017609), severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (MONDO:0007064), nephrocalcinosis (MONDO:0001567), nephrolithiasis (MONDO:0008171)

Orphanet (10): Primary hyperoxaluria (Orphanet:416), Primary hyperoxaluria type 1 (Orphanet:93598), Renal tubular dysgenesis of genetic origin (Orphanet:97369), Autosomal spastic paraplegia type 30 (Orphanet:101010), NESCAV syndrome (Orphanet:662367), D-2-hydroxyglutaric aciduria (Orphanet:79315), Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970), Renal tubular dysgenesis (Orphanet:3033), Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277), Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)

HPO phenotypes

45 total (30 of 45 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000083	Renal insufficiency
HP:0000121	Nephrocalcinosis
HP:0000164	Abnormality of the dentition
HP:0000488	Retinopathy
HP:0000648	Optic atrophy
HP:0000787	Nephrolithiasis
HP:0000790	Hematuria
HP:0000805	Enuresis
HP:0000924	Abnormality of the skeletal system
HP:0000965	Cutis marmorata
HP:0001063	Acrocyanosis
HP:0001138	Optic neuropathy
HP:0001297	Stroke
HP:0001508	Failure to thrive
HP:0001678	Atrioventricular block
HP:0001903	Anemia
HP:0001939	Abnormality of metabolism/homeostasis
HP:0001942	Metabolic acidosis
HP:0001944	Dehydration
HP:0002621	Atherosclerosis
HP:0002653	Bone pain
HP:0002756	Pathologic fracture
HP:0003159	Hyperoxaluria
HP:0003593	Infantile onset
HP:0003761	Calcinosis
HP:0003774	Stage 5 chronic kidney disease
HP:0004417	Intermittent claudication
HP:0004950	Peripheral arterial stenosis

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST002647_10	Height	8.000000e-10
GCST003119_13	Urinary metabolites	7.000000e-18
GCST004777_47	Diastolic blood pressure	9.000000e-07
GCST005196_196	Coronary artery disease	2.000000e-08
GCST006166_17	Diastolic blood pressure x alcohol consumption interaction (2df test)	1.000000e-11
GCST006166_47	Diastolic blood pressure x alcohol consumption interaction (2df test)	9.000000e-13
GCST006187_5	Diastolic blood pressure (cigarette smoking interaction)	2.000000e-14
GCST006188_19	Systolic blood pressure (cigarette smoking interaction)	3.000000e-10
GCST006231_15	Mean arterial pressure	4.000000e-12
GCST006258_44	Diastolic blood pressure	1.000000e-14
GCST006259_28	Systolic blood pressure	1.000000e-12
GCST006434_42	Systolic blood pressure x alcohol consumption interaction (2df test)	2.000000e-08
GCST006585_1388	Blood protein levels	2.000000e-16
GCST007094_74	Diastolic blood pressure	2.000000e-11
GCST007099_74	Systolic blood pressure	1.000000e-09
GCST007235_1	Pancreatic ductal adenocarcinoma	4.000000e-07
GCST007267_27	Systolic blood pressure	6.000000e-26
GCST007930_163	Medication use (agents acting on the renin-angiotensin system)	9.000000e-10
GCST008359_10	Response to cognitive-behavioural therapy in anxiety disorder	8.000000e-06
GCST008839_196	Height	5.000000e-10
GCST010866_29	Coronary artery disease	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0006336	diastolic blood pressure
EFO:0004329	alcohol drinking
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0007820	cognitive behavioural therapy

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D006960	Hyperoxaluria, Primary	C12.050.351.968.419.313.500; C12.200.777.419.313.500; C12.950.419.313.500; C16.320.565.202.460; C18.452.648.202.460
D006973	Hypertension	C14.907.489
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009397	Nephrocalcinosis	C12.050.351.968.419.590; C12.200.777.419.590; C12.950.419.590; C18.452.174.130.560
D053040	Nephrolithiasis	C12.050.351.968.419.600; C12.050.351.968.967.249; C12.200.777.419.600; C12.200.777.967.249; C12.950.419.600; C12.950.967.249
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
C536414	Primary hyperoxaluria type 1 (supp.)
C531816	Severe combined immunodeficiency due to adenosine deaminase deficiency (supp.)
C563677	Spastic Paraplegia 30, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169121 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

13 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs11122576	Efficacy	3	amlodipine;chlorthalidone;lisinopril
rs4762	Efficacy	3	irbesartan	Hypertension;Hypertrophy;Left Ventricular
rs5050	Toxicity	3	aspirin
rs5051	Efficacy	3	atenolol	Hypertension
rs5051	Efficacy	3	benazepril;imidapril	Hypertension
rs699	Toxicity	3	Antiinflammatory agents;non-steroids
rs699	Efficacy	3	quinapril	Coronary Artery Disease
rs699	Efficacy	3	Ace Inhibitors;Plain	Hypertension
rs699	Efficacy	3	irbesartan	Hypertension;Hypertrophy;Left Ventricular
rs699	Efficacy	3	atenolol	Hypertension;Hypertrophy;Left Ventricular
rs7079	Efficacy	3	benazepril	Hypertension
rs943580	Toxicity	3	Antiinflammatory agents;non-steroids	Acute coronary syndrome

PharmGKB variants

9 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs699	AGT	3	2.50	5	irbesartan;atenolol;Antiinflammatory agents;non-steroids;quinapril;Ace Inhibitors;Plain
rs4762	AGT	3	1.00	1	irbesartan
rs5050	AGT	3	2.75	1	aspirin
rs5051	AGT	3	2.50	2	atenolol;benazepril;imidapril
rs7079	AGT	3	3.50	1	benazepril
rs943580	AGT	3	2.75	1	Antiinflammatory agents;non-steroids
rs11122576	AGT	3	0.00	2	amlodipine;chlorthalidone;lisinopril
rs4426527	AGXT		0.00	0
rs34116584	AGXT		0.00	0

ChEMBL bioactivities

39 potent at pChembl≥5 of 40 total, top 39 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.70	Ki	2	nM	CHEMBL5170947
7.57	Ki	27	nM	CHEMBL5207596
7.40	IC50	40	nM	CHEMBL5170947
7.40	Ki	40	nM	CHEMBL3764222
7.30	Ki	50	nM	CHEMBL3763469
7.22	IC50	60	nM	CHEMBL3764023
7.10	Ki	80	nM	CHEMBL3764351
7.07	Ki	86	nM	CHEMBL3765396
6.96	Ki	110	nM	CHEMBL5181500
6.92	IC50	120	nM	CHEMBL3763469
6.80	IC50	160	nM	CHEMBL3764351
6.80	IC50	160	nM	CHEMBL5179589
6.70	IC50	200	nM	CHEMBL3763498
6.64	IC50	230	nM	CHEMBL5207596
6.64	IC50	230	nM	CHEMBL5207995
6.62	Ki	240	nM	CHEMBL5204588
6.55	IC50	280	nM	CHEMBL5183689
6.52	IC50	300	nM	CHEMBL3765396
6.52	IC50	300	nM	CHEMBL3765186
6.46	IC50	350	nM	CHEMBL5181500
6.40	Ki	400	nM	CHEMBL5179589
6.26	IC50	550	nM	CHEMBL5199538
6.22	Ki	600	nM	CHEMBL5173536
6.21	IC50	620	nM	CHEMBL5195123
6.16	IC50	700	nM	CHEMBL3765807
6.14	Ki	720	nM	CHEMBL5199538
6.07	IC50	850	nM	CHEMBL5189330
5.85	IC50	1400	nM	CHEMBL3764222
5.75	IC50	1800	nM	CHEMBL5204588
5.70	Ki	2000	nM	CHEMBL3763498
5.70	Ki	2000	nM	CHEMBL5207995
5.62	IC50	2400	nM	CHEMBL3764504
5.47	Ki	3400	nM	CHEMBL3764504
5.46	Ki	3500	nM	CHEMBL5183689
5.42	Ki	3800	nM	CHEMBL3765807
5.42	Ki	3780	nM	CHEMBL3764023
5.34	IC50	4600	nM	CHEMBL5207016
5.34	Ki	4600	nM	CHEMBL5195123
5.25	IC50	5600	nM	CHEMBL5173536

PubChem BioAssay actives

39 with measured affinity, of 131 total; 21 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
naphthalen-2-yloxymethanamine;hydrochloride	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.0020	uM
O-[(3-phenylphenyl)methyl]hydroxylamine	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.0270	uM
O-[(3-methoxyphenyl)methyl]hydroxylamine;hydrochloride	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.0400	uM
O-[(3-bromophenyl)methyl]hydroxylamine;hydrochloride	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.0500	uM
O-[(4-chlorophenyl)methyl]hydroxylamine;hydrochloride	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.0600	uM
O-[(4-methoxyphenyl)methyl]hydroxylamine;hydrochloride	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.0800	uM
O-[(4-fluorophenyl)methyl]hydroxylamine;hydrochloride	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.0860	uM
O-(1-benzothiophen-2-ylmethyl)hydroxylamine	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.1100	uM
O-[(4-methylphenyl)methyl]hydroxylamine;hydrochloride	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.1600	uM
O-[(4-phenylphenyl)methyl]hydroxylamine;hydrochloride	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.2000	uM
O-(1-benzofuran-2-ylmethyl)hydroxylamine	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.2300	uM
O-[(3-pyrrolidin-1-ylphenyl)methyl]hydroxylamine	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.2400	uM
O-[[3-(4-fluorophenyl)phenyl]methyl]hydroxylamine	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.2800	uM
O-[(2,4-difluorophenyl)methyl]hydroxylamine;hydrochloride	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.3000	uM
O-[[3-[4-(trifluoromethyl)phenyl]phenyl]methyl]hydroxylamine	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.5500	uM
O-benzylhydroxylamine;hydrochloride	1893347: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 assessed as inhibition constant using L-alanine and glyoxylate as a substrate in presence of PLP	ki	0.6000	uM
O-[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]hydroxylamine	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.6200	uM
O-[(3-chlorophenyl)methyl]hydroxylamine;hydrochloride	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.7000	uM
O-[(3-morpholin-4-ylphenyl)methyl]hydroxylamine	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	0.8500	uM
O-[(3-fluorophenyl)methyl]hydroxylamine;hydrochloride	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	2.4000	uM
O-[[3-(4-methylpiperazin-1-yl)phenyl]methyl]hydroxylamine	1893345: Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	ic50	4.6000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	5
Aflatoxin B1	affects expression, decreases expression, decreases methylation	5
Cyclosporine	decreases expression	3
sodium arsenite	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Valproic Acid	decreases expression	2
OTX015	decreases expression	1
mivebresib	decreases expression	1
methyleugenol	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects expression	1
deoxynivalenol	decreases expression	1
senecionine	decreases expression	1
senkirkine	decreases expression	1
heliotrine	decreases expression	1
perfluorooctanoic acid	decreases expression	1
periodate-oxidized adenosine	affects expression	1
benazol P	affects expression	1
CGP 52608	increases reaction, affects binding	1
Copper	affects binding, decreases expression	1
Diazinon	increases methylation	1
Disulfiram	affects binding, decreases expression	1
Estradiol	decreases expression	1
Mercuric Chloride	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Pyrrolizidine Alkaloids	decreases expression	1
Quercetin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5149479	Binding	Inhibition of recombinant wild type His-tagged AGT (unknown origin) expressed in Escherichia coli BL21 using L-alanine and glyoxylate as a substrate in presence of PLP	Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1. — J Med Chem

Cellosaurus cell lines

7 cell lines: 7 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4WC	PH1-iPSC#1	Induced pluripotent stem cell	Male
CVCL_A4WD	PH1-iPSC#2	Induced pluripotent stem cell	Male
CVCL_A4WG	PH1-iPSC#2-TTRp-AGXT	Induced pluripotent stem cell	Male
CVCL_A4WH	PH1-iPSC#2-TTRp-eGFP	Induced pluripotent stem cell	Male
CVCL_DQ60	PH1-Fib-hiPSC4F1	Induced pluripotent stem cell	Male
CVCL_DQ61	PH1-PBMCs-hiPSC4F1	Induced pluripotent stem cell	Male
CVCL_YC91	CIMAi001-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT03681184	PHASE3	COMPLETED	A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1
NCT03905694	PHASE3	COMPLETED	A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1
NCT04042402	PHASE3	ACTIVE_NOT_RECRUITING	Long Term Extension Study in Patients With Primary Hyperoxaluria
NCT04152200	PHASE3	COMPLETED	A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1
NCT06465472	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Stiripentol in Patients 6 Years and Older With Primary Hyperoxaluria Type 1, 2 or 3
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT03116685	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
NCT03938272	PHASE3	TERMINATED	An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
NCT01281878	PHASE2	COMPLETED	Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate
NCT03350451	PHASE2	COMPLETED	An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1
NCT03847909	PHASE2	COMPLETED	A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2
NCT04580420	PHASE2	RECRUITING	Safety & Efficacy of DCR-PHXC in Patients With PH1 and ESRD
NCT05001269	PHASE2	COMPLETED	Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function
NCT07587021	PHASE2	NOT_YET_RECRUITING	Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1)
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy