MTMR1

Summary

MTMR1 (myotubularin related protein 1, HGNC:7449) is a protein-coding gene on chromosome Xq28, encoding Phosphatidylinositol-3-phosphate phosphatase MTMR1 (Q13613). Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate, generating phosphatidylinositol.

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.

Source: NCBI Gene 8776 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 188 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_001306144

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7449
Approved symbol	MTMR1
Name	myotubularin related protein 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000063601
Ensembl biotype	protein_coding
OMIM	300171
Entrez	8776

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 17 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000370387, ENST00000370390, ENST00000429965, ENST00000434699, ENST00000436701, ENST00000438018, ENST00000439546, ENST00000445323, ENST00000485376, ENST00000488357, ENST00000490316, ENST00000493480, ENST00000493995, ENST00000542156, ENST00000914470, ENST00000914471, ENST00000914472, ENST00000914473, ENST00000914474, ENST00000914475, ENST00000941731

RefSeq mRNA: 10 — MANE Select: NM_001306144 NM_001306144, NM_001306145, NM_001353990, NM_001353991, NM_001353992, NM_001353993, NM_001353994, NM_001353995, NM_001353996, NM_003828

CCDS: CCDS14695, CCDS78512, CCDS78513, CCDS94687

Canonical transcript exons

ENST00000445323 — 16 exons

Exon	Start	End
ENSE00000677560	150730525	150730608
ENSE00000677561	150731470	150731619
ENSE00000677562	150732542	150732730
ENSE00000677563	150736595	150736780
ENSE00001595704	150762565	150765108
ENSE00001914276	150693396	150693676
ENSE00003495927	150718625	150718700
ENSE00003522742	150744361	150744453
ENSE00003523244	150699195	150699300
ENSE00003586243	150750730	150750843
ENSE00003624158	150730109	150730210
ENSE00003648104	150737242	150737448
ENSE00003648468	150727684	150727791
ENSE00003669343	150755689	150755865
ENSE00003679832	150712342	150712365
ENSE00003684292	150727215	150727309

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1531 / max 237.8671, expressed in 1807 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197969	20.2916	1806
197971	0.6936	194
197970	0.1679	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.09	gold quality
buccal mucosa cell	CL:0002336	97.54	gold quality
esophagus squamous epithelium	UBERON:0006920	97.35	gold quality
squamous epithelium	UBERON:0006914	96.87	gold quality
gingival epithelium	UBERON:0001949	96.67	gold quality
epithelium of esophagus	UBERON:0001976	96.52	gold quality
oocyte	CL:0000023	95.97	gold quality
gingiva	UBERON:0001828	95.91	gold quality
middle temporal gyrus	UBERON:0002771	95.72	gold quality
tongue squamous epithelium	UBERON:0006919	95.71	gold quality
upper leg skin	UBERON:0004262	95.48	gold quality
oviduct epithelium	UBERON:0004804	95.27	gold quality
cervix squamous epithelium	UBERON:0006922	95.21	gold quality
epithelium of nasopharynx	UBERON:0001951	95.10	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.87	gold quality
thymus	UBERON:0002370	94.61	gold quality
amniotic fluid	UBERON:0000173	94.59	gold quality
palpebral conjunctiva	UBERON:0001812	94.51	gold quality
penis	UBERON:0000989	94.30	gold quality
hair follicle	UBERON:0002073	94.21	gold quality
pharyngeal mucosa	UBERON:0000355	93.65	gold quality
cervix epithelium	UBERON:0004801	93.09	gold quality
skin of hip	UBERON:0001554	93.05	gold quality
upper arm skin	UBERON:0004263	92.90	gold quality
placenta	UBERON:0001987	92.78	gold quality
tonsil	UBERON:0002372	92.48	gold quality
mammalian vulva	UBERON:0000997	92.29	gold quality
visceral pleura	UBERON:0002401	92.03	gold quality
pancreatic ductal cell	CL:0002079	91.75	gold quality
oral cavity	UBERON:0000167	91.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting MTMR1, 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-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-9898	99.00	67.89	500
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-6764-3P	98.44	67.64	1153
HSA-MIR-6824-3P	98.44	67.62	1154

Literature-anchored findings (GeneRIF, showing 3)

• Altered splicing of MTMR1 RNA in the pathological context of congenital myotonic dystrophy (PMID:12217958)
• REVIEW : MTMR1 belongs to the myotubularin family of phosphoinositides phosphatases (PMID:12925573)
• an aberrant MTMR1 expression and signs of altered myofiber maturation were documented in both DM1 and in DM2 muscle tissues. (PMID:20685272)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtmr1b	ENSDARG00000022378
danio_rerio	mtmr1a	ENSDARG00000056690
mus_musculus	Mtmr1	ENSMUSG00000015214
rattus_norvegicus	Mtmr1	ENSRNOG00000002697
drosophila_melanogaster	mtm	FBGN0025742
drosophila_melanogaster	Sbf	FBGN0025802
drosophila_melanogaster	Mtmr6	FBGN0028497
drosophila_melanogaster	CG14411	FBGN0030582
drosophila_melanogaster	CG3632	FBGN0030735
drosophila_melanogaster	CG5026	FBGN0035945
caenorhabditis_elegans	mtm-1	WBGENE00003475
caenorhabditis_elegans		WBGENE00003476
caenorhabditis_elegans		WBGENE00003477
caenorhabditis_elegans		WBGENE00003478
caenorhabditis_elegans		WBGENE00003479
caenorhabditis_elegans	mtm-10	WBGENE00021683

Paralogs (13): MTMR7 (ENSG00000003987), MTMR11 (ENSG00000014914), MTMR2 (ENSG00000087053), SBF1 (ENSG00000100241), MTMR3 (ENSG00000100330), MTMR8 (ENSG00000102043), MTMR9 (ENSG00000104643), MTMR4 (ENSG00000108389), SBF2 (ENSG00000133812), MTMR6 (ENSG00000139505), MTMR12 (ENSG00000150712), MTMR10 (ENSG00000166912), MTM1 (ENSG00000171100)

Protein

Protein identifiers

Phosphatidylinositol-3-phosphate phosphatase MTMR1 — Q13613 (reviewed: Q13613)

Alternative names: Myotubularin-related protein 1, Phosphatidylinositol-3,5-bisphosphate 3-phosphatase

All UniProt accessions (10): Q13613, E9PIH9, E9PPP8, F8W764, F8W8S8, F8WA39, H0YDX3, H7BZJ1, H7C406, Q8NEC6

UniProt curated annotations — full annotation on UniProt →

Function. Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate, generating phosphatidylinositol. Could also dephosphorylate phosphatidylinositol 3,5-bisphosphate to produce phosphatidylinositol 5-phosphate.

Subunit / interactions. Homodimer.

Subcellular location. Cell membrane. Cytoplasm.

Domain organisation. The C-terminal region is required for dimerization.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13613-1	1	yes
Q13613-2	1A

RefSeq proteins (10): NP_001293073, NP_001293074, NP_001340919, NP_001340920, NP_001340921, NP_001340922, NP_001340923, NP_001340924, NP_001340925, NP_003819 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000387	Tyr_Pase_dom	Domain
IPR003595	Tyr_Pase_cat	Domain
IPR004182	GRAM	Domain
IPR010569	Myotubularin-like_Pase_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016130	Tyr_Pase_AS	Active_site
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR030564	Myotubularin	Family
IPR030587	MTMR1_PTP	Domain
IPR037857	MTMR1_PH-GRAM	Domain

Pfam: PF02893, PF06602

Enzyme classification (BRENDA):

• EC 3.1.3.95 — phosphatidylinositol-3,5-bisphosphate 3-phosphatase (BRENDA: 2 organisms, 16 substrates, 1 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 3 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:12316)
• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:39019)
• 1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3-phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:42328)

UniProt features (87 total): helix 26, strand 17, binding site 15, turn 8, mutagenesis site 4, compositionally biased region 4, modified residue 3, region of interest 3, domain 2, splice variant 2, chain 1, active site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5C16	X-RAY DIFFRACTION	2.07

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13613-F1	85.72	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.

Catalytic / active sites (1): 438 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (15): 351; 376; 377; 439; 439; 440; 441; 441; 442; 442; 443; 443 …

Post-translational modifications (3): 1, 43, 49

Mutagenesis-validated functional residues (4):

Position	Phenotype
438	abolishes enzyme activity.
443	abolishes enzyme activity.
444	abolishes enzyme activity with phosphatidylinositol 3-phosphate. reduces activity with phosphatidylinositol (3,5)-bispho
484	abolishes enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-9035034	RHOF GTPase cycle
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-556833	Metabolism of lipids
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 200 (showing top): GOBP_LIPID_MODIFICATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_PROTEIN_DESTABILIZATION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (6): phosphatidylinositol biosynthetic process (GO:0006661), protein destabilization (GO:0031648), phosphatidylinositol dephosphorylation (GO:0046856), regulation of phosphatidylinositol dephosphorylation (GO:0060304), lipid metabolic process (GO:0006629), dephosphorylation (GO:0016311)

GO Molecular Function (5): phosphatidylinositol-3-phosphate phosphatase activity (GO:0004438), protein homodimerization activity (GO:0042803), phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629), hydrolase activity (GO:0016787), phosphatidylinositol phosphate phosphatase activity (GO:0052866)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
PI Metabolism	1
RHO GTPase cycle	1
Phospholipid metabolism	1
Metabolism of lipids	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Metabolism	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
phosphatidylinositol metabolic process	2
biosynthetic process	1
regulation of protein stability	1
phospholipid dephosphorylation	1
regulation of lipid metabolic process	1
regulation of dephosphorylation	1
phosphatidylinositol dephosphorylation	1
regulation of phosphorus metabolic process	1
regulation of macromolecule metabolic process	1
primary metabolic process	1
phosphate-containing compound metabolic process	1
phosphatidylinositol monophosphate phosphatase activity	1
identical protein binding	1
protein dimerization activity	1
phosphatidylinositol-3,5-bisphosphate phosphatase activity	1
catalytic activity	1
phosphatase activity	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1474 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTMR1	MAMLD1	Q13495	875
MTMR1	FRG1	Q14331	781
MTMR1	TNNT3	P45378	774
MTMR1	FRG2	Q64ET8	761
MTMR1	RYR1	P21817	649
MTMR1	CLCN1	P35523	645
MTMR1	MTMR14	Q8NCE2	609
MTMR1	CELF1	Q92879	588
MTMR1	MBNL1	Q9NR56	565
MTMR1	DMPK	Q09013	492
MTMR1	ATP2A1	O14983	489
MTMR1	DPY19L3	Q6ZPD9	479
MTMR1	CEBPD	P49716	479
MTMR1	HAUS7	Q99871	469
MTMR1	DTNA	Q9Y4J8	468

IntAct

171 interactions, top by confidence:

A	B	Type	Score
GMNN	MCIDAS	psi-mi:“MI:0914”(association)	0.770
MTMR2	CCDC22	psi-mi:“MI:0914”(association)	0.730
EFNB3	DENND11	psi-mi:“MI:0914”(association)	0.640
PSMC2	PSMD12	psi-mi:“MI:0914”(association)	0.640
DLG1	MTMR1	psi-mi:“MI:0407”(direct interaction)	0.620
MTMR1	DLG1	psi-mi:“MI:0407”(direct interaction)	0.620
RPGR	NPHP1	psi-mi:“MI:0914”(association)	0.560
MTMR1	GMNN	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
EFNB2	FAM171A2	psi-mi:“MI:0914”(association)	0.530
PIP4K2A	AP3B1	psi-mi:“MI:0914”(association)	0.530
LRRC4C	DVL2	psi-mi:“MI:0914”(association)	0.530
RAB6B	SBF1	psi-mi:“MI:0914”(association)	0.530
LIPC	ATP4A	psi-mi:“MI:0914”(association)	0.530
MTMR9	CENPF	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
MTMR1	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
MTMR1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (147): MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), SLC4A1AP (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Proximity Label-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9

Diamond homologs: A0A0G2JXT6, A0JMK5, A2BGG1, A4FU01, A6QLT2, A6QLT4, A7MB43, E9PXF8, F4J3T8, F4JWB3, G5ED68, O13819, P47147, Q13496, Q13613, Q13614, Q13615, Q22712, Q2KJ24, Q3V1L6, Q52KU6, Q54GQ1, Q55E58, Q5EB32, Q5F452, Q5PQT2, Q5R6F6, Q5R9S3, Q5REB9, Q5U581, Q5ZIV1, Q6AXQ4, Q6NTN5, Q6NU08, Q6TEL0, Q7TPM9, Q7ZXF1, Q80TA6, Q8K296, Q8VE11

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MTMR1	“down-regulates quantity”	“1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate(5-)”	“chemical modification”
MTMR1	“up-regulates quantity”	“1-phosphatidyl-1D-myo-inositol 5-phosphate(3-)”	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 169 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
Ras activation upon Ca2+ influx through NMDA receptor	5	26.9×	8e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	25.6×	8e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	25.6×	8e-05
Assembly and cell surface presentation of NMDA receptors	10	23.9×	2e-09
Dopamine Neurotransmitter Release Cycle	5	23.4×	1e-04
Long-term potentiation	5	22.4×	1e-04
Neurexins and neuroligins	11	20.4×	2e-09
Protein-protein interactions at synapses	7	17.5×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	38.7×	4e-11
protein localization to synapse	6	30.6×	6e-06
receptor clustering	7	29.1×	1e-06
regulation of postsynaptic membrane neurotransmitter receptor levels	8	26.4×	2e-07
cell-cell adhesion	11	7.4×	5e-05
protein-containing complex assembly	9	6.8×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	4
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

2572 predictions. Top by Δscore:

Variant	Effect	Δscore
X:150693673:ACAGG:A	donor_loss	1.0000
X:150693674:CAGG:C	donor_loss	1.0000
X:150693675:AGGTA:A	donor_loss	1.0000
X:150693678:T:A	donor_loss	1.0000
X:150699193:A:AG	acceptor_gain	1.0000
X:150699194:G:GG	acceptor_gain	1.0000
X:150726508:G:GT	donor_gain	1.0000
X:150727213:A:AG	acceptor_gain	1.0000
X:150727213:AGT:A	acceptor_gain	1.0000
X:150727214:G:GG	acceptor_gain	1.0000
X:150727214:GTG:G	acceptor_gain	1.0000
X:150727306:GAGG:G	donor_gain	1.0000
X:150727308:GG:G	donor_gain	1.0000
X:150727309:GG:G	donor_gain	1.0000
X:150727771:G:GA	donor_gain	1.0000
X:150730106:CAGGA:C	acceptor_loss	1.0000
X:150730107:A:AG	acceptor_gain	1.0000
X:150730107:AG:A	acceptor_gain	1.0000
X:150730107:AGGAT:A	acceptor_loss	1.0000
X:150730108:G:GG	acceptor_gain	1.0000
X:150730108:GG:G	acceptor_gain	1.0000
X:150730207:ACAG:A	donor_loss	1.0000
X:150730209:AGGT:A	donor_loss	1.0000
X:150730210:GGTAA:G	donor_loss	1.0000
X:150730211:G:T	donor_loss	1.0000
X:150730212:T:A	donor_loss	1.0000
X:150730520:TCCA:T	acceptor_loss	1.0000
X:150730522:CA:C	acceptor_loss	1.0000
X:150730524:G:A	acceptor_loss	1.0000
X:150730604:GACAG:G	donor_gain	1.0000

AlphaMissense

4435 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:150731488:T:A	W246R	1.000
X:150731488:T:C	W246R	1.000
X:150732551:T:A	W293R	1.000
X:150732551:T:C	W293R	1.000
X:150737419:T:A	W474R	1.000
X:150737419:T:C	W474R	1.000
X:150755821:T:A	W597R	1.000
X:150755821:T:C	W597R	1.000
X:150727260:G:A	G125E	0.999
X:150731489:G:C	W246S	0.999
X:150731490:G:C	W246C	0.999
X:150731490:G:T	W246C	0.999
X:150731599:C:G	R283G	0.999
X:150731600:G:C	R283P	0.999
X:150731612:G:C	R287T	0.999
X:150731613:A:C	R287S	0.999
X:150731613:A:T	R287S	0.999
X:150732572:G:C	A300P	0.999
X:150732584:C:A	R304S	0.999
X:150732585:G:C	R304P	0.999
X:150732587:T:C	C305R	0.999
X:150732589:C:G	C305W	0.999
X:150732632:G:C	D320H	0.999
X:150732654:T:A	I327K	0.999
X:150732662:G:C	A330P	0.999
X:150736763:T:A	W409R	0.999
X:150736763:T:C	W409R	0.999
X:150737313:C:G	C438W	0.999
X:150737320:G:C	G441R	0.999
X:150737321:G:A	G441D	0.999

dbSNP variants (sampled 300 via entrez): RS1000049760 (X:150694411 G>C,T), RS1000101547 (X:150693091 T>C), RS1000135329 (X:150720205 A>T), RS1000257343 (X:150735004 C>T), RS1000355766 (X:150725650 G>T), RS1000377742 (X:150703642 A>C,T), RS1000589836 (X:150732430 G>A), RS1000747201 (X:150722899 T>C), RS1000754292 (X:150712076 C>G,T), RS1000878429 (X:150759814 C>A,T), RS1000934428 (X:150752602 A>G), RS1000986547 (X:150752073 C>T), RS1001096260 (X:150723461 A>G), RS1001128209 (X:150742195 G>C), RS1001208702 (X:150705080 T>G)

Disease associations

OMIM: gene MIM:300171 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002395_650	Mean platelet volume	6.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724630 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
6.20	IC50	630	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178705: Inhibition of MTMR1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.6300	uM

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, decreases reaction	2
FR900359	affects phosphorylation	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	increases expression	1
Decitabine	decreases expression, decreases reaction	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Caffeine	increases phosphorylation	1
Dimethyl Sulfoxide	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Testosterone	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Vanadates	increases expression	1
Aflatoxin B1	increases methylation	1
Tungsten Compounds	increases expression	1
Lactic Acid	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697435	Binding	Inhibition of MTMR1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SZ24	HAP1 MTMR1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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