MTX1

Summary

MTX1 (metaxin 1, HGNC:7504) is a protein-coding gene on chromosome 1q22, encoding Metaxin-1 (Q13505). Involved in transport of proteins into the mitochondrion.

Predicted to be involved in mitochondrion organization. Located in mitochondrion. Part of SAM complex.

Source: NCBI Gene 4580 — RefSeq curated summary.

At a glance

• GWAS associations: 38
• Clinical variants (ClinVar): 33 total
• Druggable target: yes
• MANE Select transcript: NM_002455

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7504
Approved symbol	MTX1
Name	metaxin 1
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	MTXN
Ensembl gene	ENSG00000173171
Ensembl biotype	protein_coding
OMIM	600605
Entrez	4580

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000316721, ENST00000368376, ENST00000424959, ENST00000481771, ENST00000495492, ENST00000495589, ENST00000609421

RefSeq mRNA: 2 — MANE Select: NM_002455 NM_002455, NM_198883

CCDS: CCDS1100, CCDS1101

Canonical transcript exons

ENST00000368376 — 8 exons

Exon	Start	End
ENSE00001328667	155208695	155209332
ENSE00003554614	155210346	155210415
ENSE00003597481	155213484	155213823
ENSE00003704024	155212385	155212567
ENSE00003704224	155212127	155212219
ENSE00003707914	155213237	155213391
ENSE00003709310	155210548	155210627
ENSE00003709326	155212694	155212770

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.0843 / max 167.2747, expressed in 1822 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5588	30.2258	1820
5586	1.0865	637
5587	0.7425	395
5585	0.0295	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	97.13	gold quality
left testis	UBERON:0004533	97.03	gold quality
testis	UBERON:0000473	96.18	gold quality
blood	UBERON:0000178	95.89	gold quality
mucosa of transverse colon	UBERON:0004991	94.33	gold quality
stromal cell of endometrium	CL:0002255	94.12	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.05	gold quality
granulocyte	CL:0000094	93.95	gold quality
right uterine tube	UBERON:0001302	93.59	gold quality
right adrenal gland	UBERON:0001233	93.50	gold quality
right adrenal gland cortex	UBERON:0035827	93.20	gold quality
left adrenal gland	UBERON:0001234	93.08	gold quality
left adrenal gland cortex	UBERON:0035825	92.92	gold quality
leukocyte	CL:0000738	92.70	gold quality
monocyte	CL:0000576	92.68	gold quality
prefrontal cortex	UBERON:0000451	92.57	gold quality
fallopian tube	UBERON:0003889	92.53	gold quality
placenta	UBERON:0001987	92.44	gold quality
spleen	UBERON:0002106	92.16	gold quality
metanephros cortex	UBERON:0010533	92.14	gold quality
frontal cortex	UBERON:0001870	92.03	gold quality
adult mammalian kidney	UBERON:0000082	91.96	gold quality
cortex of kidney	UBERON:0001225	91.96	gold quality
left uterine tube	UBERON:0001303	91.90	gold quality
body of stomach	UBERON:0001161	91.82	gold quality
skin of leg	UBERON:0001511	91.70	gold quality
right frontal lobe	UBERON:0002810	91.69	gold quality
mucosa of stomach	UBERON:0001199	91.68	gold quality
right lobe of liver	UBERON:0001114	91.65	gold quality
esophagus mucosa	UBERON:0002469	91.65	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.12
E-MTAB-6524	no	149.52

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TAL1

miRNA regulators (miRDB)

5 targeting MTX1, 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-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-6090	91.01	62.65	222

Literature-anchored findings (GeneRIF, showing 6)

• Single Nucleotide Polymorphism in metaxin 1 is associated with Gaucher disease (PMID:15024629)
• The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved. (PMID:17510655)
• mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import (PMID:17624330)
• Results describe the association between the MTX1 and beta-glucocerebrosidase genes and its possible effect on Parkinson disease. (PMID:21837367)
• after the induction of apoptosis, Bak switches from its association with Mtx2 and VDAC2 to a closer association with Mtx1. (PMID:27845183)
• Genome-scale CRISPRa screening identifies MTX1 as a contributor for sorafenib resistance in hepatocellular carcinoma by augmenting autophagy. (PMID:34421355)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtx1a	ENSDARG00000025500
danio_rerio	mtx1b	ENSDARG00000036109
mus_musculus	Mtx1	ENSMUSG00000064068
rattus_norvegicus	Mtx1	ENSRNOG00000042977
drosophila_melanogaster	CG9393	FBGN0037710
caenorhabditis_elegans	mtx-1	WBGENE00009559

Paralogs (3): MTX2 (ENSG00000128654), FAXC (ENSG00000146267), MTX3 (ENSG00000177034)

Protein

Protein identifiers

Metaxin-1 — Q13505 (reviewed: Q13505)

Alternative names: Mitochondrial outer membrane import complex protein 1

All UniProt accessions (2): Q13505, H0Y6Y5

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transport of proteins into the mitochondrion. Essential for embryonic development.

Subunit / interactions. Interacts with MTX2/metaxin-2. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex. Interacts with ARMC1.

Subcellular location. Membrane. Mitochondrion outer membrane.

Post-translational modifications. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.

Similarity. Belongs to the metaxin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q13505-1	1	yes
Q13505-2	2
Q13505-3	3

RefSeq proteins (2): NP_002446, NP_942584 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019564	Sam37/metaxin_N	Domain
IPR033468	Metaxin_GST	Domain
IPR036282	Glutathione-S-Trfase_C_sf	Homologous_superfamily
IPR040079	Glutathione_S-Trfase	Family
IPR050931	Mito_Protein_Transport_Metaxin	Family

Pfam: PF10568, PF17171

UniProt features (13 total): cross-link 4, compositionally biased region 3, splice variant 2, chain 1, transmembrane region 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13505-F1	71.83	0.46

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 (4): 187, 190, 227, 317

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import
R-HSA-8949613	Cristae formation
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-1592230	Mitochondrial biogenesis
R-HSA-162582	Signal Transduction
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9609507	Protein localization
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 190 (showing top): MORF_RAGE, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GCANCTGNY_MYOD_Q6, MORF_ATRX, RACCACAR_AML_Q6, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GGGTGGRR_PAX4_03, CCANNAGRKGGC_UNKNOWN, ONKEN_UVEAL_MELANOMA_UP, MARTINEZ_RB1_TARGETS_DN, MORF_PPP5C, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, MORF_FANCG, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_SECRETION

GO Biological Process (5): mitochondrion organization (GO:0007005), inner mitochondrial membrane organization (GO:0007007), lactation (GO:0007595), protein transport (GO:0015031), protein insertion into mitochondrial outer membrane (GO:0045040)

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

GO Cellular Component (5): SAM complex (GO:0001401), mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020), MIB complex (GO:0140275)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Protein localization	1
Mitochondrial biogenesis	1
RHO GTPase cycle	1
Organelle biogenesis and maintenance	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
organelle organization	1
mitochondrial membrane organization	1
body fluid secretion	1
mammary gland development	1
milk ejection reflex	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
outer mitochondrial membrane organization	1
protein insertion into mitochondrial membrane	1
binding	1
mitochondrial outer membrane translocase complex	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
cellular anatomical structure	1
inner mitochondrial membrane protein complex	1

Protein interactions and networks

STRING

1102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTX1	MTX2	O75431	958
MTX1	SAMM50	Q9Y512	918
MTX1	TRIM46	Q7Z4K8	907
MTX1	THBS3	P49746	905
MTX1	CHCHD6	Q9BRQ6	827
MTX1	GBA1	P04062	818
MTX1	IMMT	Q16891	818
MTX1	CHCHD3	Q9NX63	785
MTX1	DNAJC11	Q9NVH1	757
MTX1	MUC1	P13931	713
MTX1	MICOS10	Q5TGZ0	697
MTX1	APOO	Q9BUR5	649
MTX1	COMP	P49747	640
MTX1	TOMM22	Q9NS69	639
MTX1	TOMM70	O94826	624

IntAct

99 interactions, top by confidence:

A	B	Type	Score
IMMT	MTX2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
APOOL	MTX2	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
LPAR4	POTEF	psi-mi:“MI:0914”(association)	0.530
TMEM108	TCAF2	psi-mi:“MI:0914”(association)	0.530
SLC15A1	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC2A12	METTL15	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
SIGLEC12	HSPA5	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
HTRA2	HAX1	psi-mi:“MI:2364”(proximity)	0.420
MTX1	GHITM	psi-mi:“MI:0915”(physical association)	0.400
MTX1	MTX2	psi-mi:“MI:0915”(physical association)	0.400
NMES1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
MICOS13	MTX2	psi-mi:“MI:0914”(association)	0.350
APOOL	MGST3	psi-mi:“MI:0914”(association)	0.350
CISD3	POLRMT	psi-mi:“MI:0914”(association)	0.350
OCIAD1	NDUFS8	psi-mi:“MI:0914”(association)	0.350
	NDUFAF8	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (164): MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), MTX1 (Affinity Capture-MS)

ESM2 similar proteins: A1L3C1, A2AWP8, A2RRU4, A6QM06, A6QNS9, E1BBQ2, F1LQY6, G3V9M2, O43189, O94827, P29372, P29590, P41155, P97260, Q01113, Q02833, Q04841, Q0P5I0, Q12770, Q13387, Q13505, Q29RM4, Q32L49, Q3V1H9, Q5MNU5, Q5R5M3, Q66T02, Q69Z89, Q6GQT6, Q6IPT2, Q6RFZ7, Q6ZN54, Q70EL4, Q7Z6G3, Q8BQB4, Q8C4U2, Q8N1F8, Q8N554, Q8WWW0, Q8WXF8

Diamond homologs: A8XWD1, O45503, O75431, P47802, Q13505, Q27HK4, Q2TBS1, Q3KPT9, Q4R3I0, Q4VBW0, Q5HYI7, Q9VHB6, O64471, P34599

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MTX1	“form complex”	“SAM complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 129 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
Cristae formation	5	21.6×	1e-03
G alpha (q) signalling events	9	6.5×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
cristae formation	5	46.2×	2e-05
inner mitochondrial membrane organization	6	44.4×	2e-06
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	5	14.8×	3e-03
phospholipase C-activating G protein-coupled receptor signaling pathway	8	9.2×	5e-04
adenylate cyclase-activating G protein-coupled receptor signaling pathway	7	6.9×	8e-03
cell surface receptor signaling pathway	9	5.1×	8e-03
G protein-coupled receptor signaling pathway	15	4.8×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1308 predictions. Top by Δscore:

Variant	Effect	Δscore
1:155210341:TGCA:T	acceptor_loss	1.0000
1:155210342:GCA:G	acceptor_loss	1.0000
1:155210343:CAG:C	acceptor_loss	1.0000
1:155210344:A:AC	acceptor_loss	1.0000
1:155210344:A:AG	acceptor_gain	1.0000
1:155210345:G:GA	acceptor_gain	1.0000
1:155210345:GA:G	acceptor_gain	1.0000
1:155210345:GAC:G	acceptor_gain	1.0000
1:155210345:GACC:G	acceptor_gain	1.0000
1:155210345:GACCT:G	acceptor_gain	1.0000
1:155210626:AGG:A	donor_loss	1.0000
1:155212125:A:AG	acceptor_gain	1.0000
1:155212126:G:GG	acceptor_gain	1.0000
1:155212126:GAA:G	acceptor_gain	1.0000
1:155212217:CTGG:C	donor_loss	1.0000
1:155212218:TGGT:T	donor_loss	1.0000
1:155212220:G:C	donor_loss	1.0000
1:155212220:G:GG	donor_gain	1.0000
1:155212221:T:A	donor_loss	1.0000
1:155212374:A:AG	acceptor_gain	1.0000
1:155212375:C:G	acceptor_gain	1.0000
1:155212378:A:AG	acceptor_gain	1.0000
1:155212384:GGTA:G	acceptor_gain	1.0000
1:155212384:GGTAC:G	acceptor_gain	1.0000
1:155212537:GCC:G	donor_gain	1.0000
1:155212544:G:GT	donor_gain	1.0000
1:155212550:G:GT	donor_gain	1.0000
1:155212565:G:T	donor_gain	1.0000
1:155212567:GGTAG:G	donor_loss	1.0000
1:155212568:G:C	donor_loss	1.0000

AlphaMissense

2959 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:155212179:C:A	A244D	0.998
1:155210617:T:C	L223P	0.997
1:155210359:T:C	F181S	0.996
1:155212191:T:C	L248P	0.996
1:155212754:T:C	F339L	0.996
1:155212756:C:A	F339L	0.996
1:155212756:C:G	F339L	0.996
1:155213586:C:A	A430D	0.996
1:155209318:A:C	S172R	0.994
1:155209320:C:A	S172R	0.994
1:155209320:C:G	S172R	0.994
1:155213251:A:T	D349V	0.994
1:155213601:C:A	A435D	0.994
1:155212414:C:A	N267K	0.993
1:155212414:C:G	N267K	0.993
1:155212397:T:A	W262R	0.992
1:155212397:T:C	W262R	0.992
1:155212737:G:C	R333P	0.992
1:155213250:G:C	D349H	0.992
1:155212139:G:C	D231H	0.991
1:155212149:T:C	L234P	0.991
1:155212715:T:C	C326R	0.991
1:155212719:T:C	L327P	0.991
1:155213250:G:T	D349Y	0.991
1:155213254:C:A	A350D	0.991
1:155213260:T:A	V352D	0.991
1:155213265:A:C	S354R	0.991
1:155213267:C:A	S354R	0.991
1:155213267:C:G	S354R	0.991
1:155209271:T:C	L156P	0.990

dbSNP variants (sampled 300 via entrez): RS1000441255 (1:155209566 C>T), RS1001048297 (1:155208357 G>A), RS1001170447 (1:155210003 G>A), RS1001397487 (1:155208618 T>C), RS1001947023 (1:155207240 A>G), RS1003124123 (1:155211206 G>A), RS1003564630 (1:155211452 A>C), RS1005522202 (1:155208609 G>A), RS1005527230 (1:155213092 G>C,T), RS1005583605 (1:155209024 C>A,T), RS1005853010 (1:155207189 C>T), RS1006172416 (1:155207573 G>T), RS1006280551 (1:155207455 G>A), RS1006540290 (1:155211871 C>T), RS1006676172 (1:155211689 T>C)

Disease associations

OMIM: gene MIM:600605 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST001610_2	Renal function-related traits (BUN)	2.000000e-12
GCST002990_1	Gastric adenocarcinoma (histologically verified)	2.000000e-08
GCST002992_1	Gastric cancer	2.000000e-09
GCST002992_2	Gastric cancer	8.000000e-10
GCST003587_2	Cancer	2.000000e-07
GCST003588_2	Cancer (pleiotropy)	5.000000e-06
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST004215_1	Urea levels	6.000000e-09
GCST004601_5	Red blood cell count	2.000000e-11
GCST004604_15	Hematocrit	2.000000e-23
GCST004615_80	Hemoglobin concentration	6.000000e-19
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST007325_279	General risk tolerance (MTAG)	8.000000e-13
GCST007876_142	Estimated glomerular filtration rate	5.000000e-10
GCST008062_3	Blood urea nitrogen levels	2.000000e-67
GCST008747_177	Estimated glomerular filtration rate	7.000000e-11
GCST008972_114	Urate levels	4.000000e-16
GCST009649_1	Serum cancer antigen 15.3 levels	1.000000e-300
GCST010083_143	Hemoglobin levels	3.000000e-36
GCST010204_73	Low density lipoprotein cholesterol levels	4.000000e-08
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:1001515	ovarian endometrioid carcinoma
EFO:1001516	ovarian serous carcinoma
EFO:0004305	erythrocyte count
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004341	body fat distribution
EFO:0008579	risk-taking behaviour
EFO:0004531	urate measurement
EFO:0010585	cancer antigen 15.3 measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067154 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.93	Kd	118.4	nM	CHEMBL5653589
6.93	ED50	118.4	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148799: Binding affinity to human MTX1 incubated for 45 mins by Kinobead based pull down assay	kd	0.1184	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	2
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
cupric oxide	increases expression	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
bisphenol B	increases expression	1
bisphenol AF	increases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Dimethyl Sulfoxide	increases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Isotretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651841	Binding	Binding affinity to human MTX1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3BL	Abcam HEK293T MTX1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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