Details for: MTM1

Gene ID: 4534

Symbol: MTM1

Ensembl ID: ENSG00000171100

Description: myotubularin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 140.5379
    Cell Significance Index: -21.8600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 83.1088
    Cell Significance Index: -21.0800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 51.5332
    Cell Significance Index: -24.3300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 48.2084
    Cell Significance Index: -19.5900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.5710
    Cell Significance Index: -19.6400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.8920
    Cell Significance Index: -22.0600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.2162
    Cell Significance Index: -22.0100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.8855
    Cell Significance Index: -24.2200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.0753
    Cell Significance Index: -15.4900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.6183
    Cell Significance Index: -22.1700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5872
    Cell Significance Index: 318.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1936
    Cell Significance Index: 236.8700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1092
    Cell Significance Index: 109.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9570
    Cell Significance Index: 864.1100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7269
    Cell Significance Index: 32.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6629
    Cell Significance Index: 72.1000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6564
    Cell Significance Index: 39.4100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5791
    Cell Significance Index: 94.1900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5592
    Cell Significance Index: 21.1800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5458
    Cell Significance Index: 195.7600
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.4834
    Cell Significance Index: 6.7600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4390
    Cell Significance Index: 33.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4283
    Cell Significance Index: 11.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3972
    Cell Significance Index: 11.1000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3885
    Cell Significance Index: 45.2800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3376
    Cell Significance Index: 14.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3360
    Cell Significance Index: 8.4000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3340
    Cell Significance Index: 23.1000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3216
    Cell Significance Index: 19.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3112
    Cell Significance Index: 215.2500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2909
    Cell Significance Index: 15.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2804
    Cell Significance Index: 50.5500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2355
    Cell Significance Index: 6.7200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2298
    Cell Significance Index: 6.6200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.2102
    Cell Significance Index: 3.5400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2023
    Cell Significance Index: 2.9100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1635
    Cell Significance Index: 3.5000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1629
    Cell Significance Index: 3.5300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1399
    Cell Significance Index: 9.4100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1346
    Cell Significance Index: 16.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0996
    Cell Significance Index: 5.5900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0938
    Cell Significance Index: 176.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0918
    Cell Significance Index: 58.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0889
    Cell Significance Index: 39.3100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0610
    Cell Significance Index: 33.3200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0607
    Cell Significance Index: 1.0400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0564
    Cell Significance Index: 10.7400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0553
    Cell Significance Index: 3.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0400
    Cell Significance Index: 0.9600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0352
    Cell Significance Index: 0.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0288
    Cell Significance Index: 13.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0272
    Cell Significance Index: 41.8300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0231
    Cell Significance Index: 42.6300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0081
    Cell Significance Index: 10.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0070
    Cell Significance Index: 0.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0199
    Cell Significance Index: -2.8900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0210
    Cell Significance Index: -2.8900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0223
    Cell Significance Index: -16.3400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0227
    Cell Significance Index: -17.2100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0280
    Cell Significance Index: -20.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0389
    Cell Significance Index: -1.0400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0413
    Cell Significance Index: -25.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0427
    Cell Significance Index: -24.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0615
    Cell Significance Index: -10.5000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0789
    Cell Significance Index: -22.7100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0873
    Cell Significance Index: -1.8600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0917
    Cell Significance Index: -9.3700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0918
    Cell Significance Index: -11.8600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0931
    Cell Significance Index: -3.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0999
    Cell Significance Index: -4.6600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1045
    Cell Significance Index: -4.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1224
    Cell Significance Index: -25.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1324
    Cell Significance Index: -6.8800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1367
    Cell Significance Index: -14.2300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1383
    Cell Significance Index: -15.8500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1432
    Cell Significance Index: -3.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1559
    Cell Significance Index: -19.9900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1883
    Cell Significance Index: -2.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1914
    Cell Significance Index: -5.2100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1984
    Cell Significance Index: -3.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2048
    Cell Significance Index: -6.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2082
    Cell Significance Index: -15.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2399
    Cell Significance Index: -14.7100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2425
    Cell Significance Index: -5.0300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2527
    Cell Significance Index: -20.0100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2582
    Cell Significance Index: -5.0400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2620
    Cell Significance Index: -18.5300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2713
    Cell Significance Index: -4.6900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2722
    Cell Significance Index: -2.2200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2796
    Cell Significance Index: -17.6200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3005
    Cell Significance Index: -4.5000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3042
    Cell Significance Index: -9.9600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3190
    Cell Significance Index: -10.1600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3249
    Cell Significance Index: -8.6900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3350
    Cell Significance Index: -4.5700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3377
    Cell Significance Index: -4.9900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3659
    Cell Significance Index: -19.2100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3707
    Cell Significance Index: -5.2000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3790
    Cell Significance Index: -11.1300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3813
    Cell Significance Index: -7.5400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MTM1 is a phosphatase enzyme that belongs to the myotubularin family of proteins. It is characterized by its ability to dephosphorylate and regulate various signaling pathways, including autophagosome assembly, lipid metabolism, and protein degradation. MTM1's primary function is to negatively regulate autophagosome assembly, which is essential for maintaining cellular homeostasis and preventing autophagy-related disorders. Additionally, MTM1 is involved in regulating phosphatidylinositol-3-kinase/protein kinase B (PI3K/Akt) signaling, which is a critical pathway for cell survival and metabolism. **Pathways and Functions** MTM1's involvement in various cellular pathways highlights its multifunctional nature. Some of the key pathways and functions associated with MTM1 include: 1. **Autophagosome assembly**: MTM1 negatively regulates autophagosome assembly by dephosphorylating and inhibiting key autophagy-related proteins. 2. **Lipid metabolism**: MTM1 is involved in regulating lipid synthesis and degradation, which is essential for maintaining cellular energy homeostasis. 3. **Protein degradation**: MTM1 regulates protein degradation through its interaction with the proteasome, which is a critical pathway for maintaining protein homeostasis. 4. **Muscle cell homeostasis**: MTM1 is significantly expressed in cardiac muscle cells and regulates muscle cell homeostasis by controlling autophagosome assembly and lipid metabolism. 5. **Regulation of PI3K/Akt signaling**: MTM1 negatively regulates PI3K/Akt signaling, which is a critical pathway for cell survival and metabolism. **Clinical Significance** MTM1's dysregulation has been associated with various diseases, including: 1. **Autophagy-related disorders**: Mutations in MTM1 have been linked to autophagy-related disorders, such as autophagy-related protein 7 (ATP7) deficiency and myotubular myopathy. 2. **Muscle diseases**: MTM1's regulation of muscle cell homeostasis makes it a potential target for treating muscle diseases, such as muscular dystrophy and myotubular myopathy. 3. **Neurological disorders**: MTM1's involvement in regulating PI3K/Akt signaling makes it a potential target for treating neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, MTM1 is a multifunctional protein phosphatase involved in various cellular processes, including autophagosome assembly, lipid metabolism, and muscle cell homeostasis. Its dysregulation has been associated with various diseases, highlighting its potential as a therapeutic target for treating autophagy-related disorders, muscle diseases, and neurological disorders.

Genular Protein ID: 303285959

Symbol: MTM1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q13496 A6NDB1 B7Z491 F2Z330 Q8NEL1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 41 ChiTaRS 1 DEPOD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 19 Ensembl 3 ExpressionAtlas 1 GO 33 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 4 Rhea 5 SABIO-RK 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 2 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8640223

Title: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

PubMed ID: 8640223

DOI: 10.1038/ng0696-175

PubMed ID: 9781038

Title: Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

PubMed ID: 9781038

DOI: 10.1038/sj.ejhg.5200189

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9537414

Title: Association of SET domain and myotubularin-related proteins modulates growth control.

PubMed ID: 9537414

DOI: 10.1038/ng0498-331

PubMed ID: 10790201

Title: MTM1 mutations in X-linked myotubular myopathy.

PubMed ID: 10790201

DOI: 10.1002/(sici)1098-1004(200005)15:5<393::aid-humu1>3.0.co;2-r

PubMed ID: 11001925

Title: Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

PubMed ID: 11001925

DOI: 10.1093/oxfordjournals.hmg.a018913

PubMed ID: 10900271

Title: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.

PubMed ID: 10900271

DOI: 10.1073/pnas.160255697

PubMed ID: 12118066

Title: The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

PubMed ID: 12118066

DOI: 10.1242/jcs.115.15.3105

PubMed ID: 12646134

Title: Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.

PubMed ID: 12646134

DOI: 10.1016/s0960-9822(03)00132-5

PubMed ID: 12847286

Title: Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.

PubMed ID: 12847286

DOI: 10.1073/pnas.1033097100

PubMed ID: 14722070

Title: Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.

PubMed ID: 14722070

DOI: 10.1074/jbc.m312294200

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21135508

Title: Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

PubMed ID: 21135508

DOI: 10.1172/jci44021

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23818870

Title: Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

PubMed ID: 23818870

DOI: 10.1371/journal.pgen.1003583

PubMed ID: 25087613

Title: SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

PubMed ID: 25087613

DOI: 10.1016/j.ajhg.2014.07.004

PubMed ID: 9285787

Title: Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

PubMed ID: 9285787

DOI: 10.1093/hmg/6.9.1499

PubMed ID: 9305655

Title: Mutations in the MTM1 gene implicated in X-linked myotubular myopathy.

PubMed ID: 9305655

DOI: 10.1093/hmg/6.9.1505

PubMed ID: 9829274

Title: MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

PubMed ID: 9829274

DOI: 10.1016/s0960-8966(98)00075-3

PubMed ID: 10466421

Title: Germline mosaicism in X-linked myotubular myopathy.

PubMed ID: 10466421

DOI: 10.1034/j.1399-0004.1999.560111.x

PubMed ID: 10502779

Title: Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

PubMed ID: 10502779

DOI: 10.1002/(sici)1098-1004(199910)14:4<320::aid-humu7>3.0.co;2-o

PubMed ID: 10063835

Title: Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

PubMed ID: 10063835

DOI: 10.1016/s0960-8966(98)00090-x

PubMed ID: 11793470

Title: Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

PubMed ID: 11793470

DOI: 10.1002/humu.10033

PubMed ID: 12031625

Title: Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

PubMed ID: 12031625

DOI: 10.1016/s0960-8966(01)00328-5

PubMed ID: 12859411

Title: X-linked myotubular myopathy in a family with three adult survivors.

PubMed ID: 12859411

DOI: 10.1034/j.1399-0004.2003.00118.x

PubMed ID: 12522554

Title: Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

PubMed ID: 12522554

DOI: 10.1007/s00439-002-0869-1

PubMed ID: 17005396

Title: Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

PubMed ID: 17005396

DOI: 10.1016/j.nmd.2006.07.020

PubMed ID: 19129059

Title: X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.

PubMed ID: 19129059

DOI: 10.1016/s0929-6646(09)60022-x

Sequence Information:

  • Length: 603
  • Mass: 69932
  • Checksum: BE9770F2471957C0
  • Sequence:
    • MASASTSKYN SHSLENESIK RTSRDGVNRD LTEAVPRLPG ETLITDKEVI YICPFNGPIK 
GRVYITNYRL YLRSLETDSS LILDVPLGVI SRIEKMGGAT SRGENSYGLD ITCKDMRNLR 
FALKQEGHSR RDMFEILTRY AFPLAHSLPL FAFLNEEKFN VDGWTVYNPV EEYRRQGLPN 
HHWRITFINK CYELCDTYPA LLVVPYRASD DDLRRVATFR SRNRIPVLSW IHPENKTVIV 
RCSQPLVGMS GKRNKDDEKY LDVIRETNKQ ISKLTIYDAR PSVNAVANKA TGGGYESDDA 
YHNAELFFLD IHNIHVMRES LKKVKDIVYP NVEESHWLSS LESTHWLEHI KLVLTGAIQV 
ADKVSSGKSS VLVHCSDGWD RTAQLTSLAM LMLDSFYRSI EGFEILVQKE WISFGHKFAS 
RIGHGDKNHT DADRSPIFLQ FIDCVWQMSK QFPTAFEFNE QFLIIILDHL YSCRFGTFLF 
NCESARERQK VTERTVSLWS LINSNKEKFK NPFYTKEINR VLYPVASMRH LELWVNYYIR 
WNPRIKQQQP NPVEQRYMEL LALRDEYIKR LEELQLANSA KLSDPPTSPS SPSQMMPHVQ 
THF

Genular Protein ID: 2883058421

Symbol: A0A8I5KQR6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A8I5KQR6

Database IDs:

ARBA 6 CTD 1 ChEBI 4 DisGeNET 1 EC 1 EMBL 2 Ensembl 3 GO 3 GeneTree 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PROSITE 5 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 1 SAM 1 SMART 1 SUPFAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 355
  • Mass: 41373
  • Checksum: F0BF19A899250455
  • Sequence:
    • MSGKRNKDDE KYLDVIRETN KQISKLTIYD ARPSVNAVAN KATGGGYESD DAYHNAELFF 
LDIHNIHVMR ESLKKVKDIV YPNVEESHWL SSLESTHWLE HIKLVLTGAI QVADKVSSGK 
SSVLVHCSDG WDRTAQLTSL AMLMLDSFYR SIEGFEILVQ KEWISFGHKF ASRIGHGDKN 
HTDADRSPIF LQFIDCVWQM SKQFPTAFEF NEQFLIIILD HLYSCRFGTF LFNCESARER 
QKVTERTVSL WSLINSNKEK FKNPFYTKEI NRVLYPVASM RHLELWVNYY IRWNPRIKQQ 
QPNPVEQRYM ELLALRDEYI KRLEELQLAN SAKLSDPPTS PSSPSQMMPH VQTHF

Genular Protein ID: 4245790057

Symbol: A0A8I5KZ76_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A8I5KZ76

Database IDs:

ARBA 22 CDD 1 CTD 1 ChEBI 20 DisGeNET 1 EC 2 EMBL 2 Ensembl 2 GO 9 Gene3D 1 GeneTree 1 HGNC 1 InterPro 8 NCBI Taxonomy 1 PANTHER 2 PIRSR 2 PROSITE 5 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 3 Rhea 5 SAM 1 SMART 2 SMR 1 SUPFAM 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 618
  • Mass: 71782
  • Checksum: C7488282432E1C05
  • Sequence:
    • MASASTSKYN SHSLENESIK RTSRDGVNRD LTEAVPRLPG ETLITDKEVI YICPFNGPIK 
GRVYITNYRL YLRSLETLSS HWRFEVDTCL FQDSSLILDV PLGVISRIEK MGGATSRGEN 
SYGLDITCKD MRNLRFALKQ EGHSRRDMFE ILTRYAFPLA HSLPLFAFLN EEKFNVDGWT 
VYNPVEEYRR QGLPNHHWRI TFINKCYELC DTYPALLVVP YRASDDDLRR VATFRSRNRI 
PVLSWIHPEN KTVIVRCSQP LVGMSGKRNK DDEKYLDVIR ETNKQISKLT IYDARPSVNA 
VANKATGGGY ESDDAYHNAE LFFLDIHNIH VMRESLKKVK DIVYPNVEES HWLSSLESTH 
WLEHIKLVLT GAIQVADKVS SGKSSVLVHC SDGWDRTAQL TSLAMLMLDS FYRSIEGFEI 
LVQKEWISFG HKFASRIGHG DKNHTDADRS PIFLQFIDCV WQMSKQFPTA FEFNEQFLII 
ILDHLYSCRF GTFLFNCESA RERQKVTERT VSLWSLINSN KEKFKNPFYT KEINRVLYPV 
ASMRHLELWV NYYIRWNPRI KQQQPNPVEQ RYMELLALRD EYIKRLEELQ LANSAKLSDP 
PTSPSSPSQM MPHVQTHF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.